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Hematologic DisorderNCT04398628

ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders

An observational study of Hematologic Disorder and Bleeding Disorder, run by American Thrombosis and Hemostasis Network at 76 sites in United States.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial summary

In parallel with the growth of ATHN's clinical studies, the number of new therapies for all blood disorders is increasing significantly. Some of the recently FDA-approved therapies for congenital and acquired hematologic conditions have not yet demonstrated long-term safety and effectiveness beyond the pivotal trials… Read more about this study

Who is it for?
Any age
How many people
3,000 participants
Where
76 sitesUnited States
Study dates
30 Sep 2020to Dec 2035
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: This is a real-world study in which participants with congenital or acquired blood disorders will be enrolled.

Who may be able to join

  • Any age
  • Having a congenital or acquired blood disorder; or
  • Having a bleeding phenotype as indicated by an age adjusted abnormal ISTH Bleeding Assessment Tool score with an unknown diagnosis; or
  • Connective tissue disorder with bleeding tendency as indicated by an age adjusted abnormal ISTH Bleeding Assessment Tool score.
  • Eligible for a currently active disease-specific arm.
  • Concurrent enrollment in the ATHNdataset or current ATHNdataset participant.
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  • Participants who meet any of the following inclusion criteria are eligible for enrollment into this cohort:
  • Factor VIII or factor IX activity <50%, without another explanation for low clotting factor other than congenital hemophilia or being a known carrier for congenital hemophilia; OR
  • Carrier for congenital hemophilia with a factor VIII >=50% or factor IX activity >=50% with or without a bleeding phenotype as indicated by an ISTH Bleeding Assessment Tool score of ≥4 for adult males, ≥6 for adult females, or ≥3 for children younger than 18 years OR
  • Known congenital hemophilia that have a factor level >50% after receiving vector, OR 4. Acquired hemophilia.
  • Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:
  • 1. Meeting the definition of VWD or low VWF per most recent international guidelines
  • Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:
  • Abnormalities of platelet function a. Glanzmann thrombasthenia (GPIIb or GPIIIa) b. Bernard-Soulier syndrome (GPIbalpha, GPIbbeta, or GPIX)
  • Abnormalities of platelet granules
  • Abnormalities of platelet signal transduction
  • Abnormalities of platelet secretion
  • Collagen Receptor Defect
  • ADP Receptor Defect
  • Thromboxane Receptor Defect
  • Giant Platelet Disorder
  • Abnormalities in platelet aggregation testing due to another or unknown cause (not drug related)
  • Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:
  • 1. Have an established Rare Coagulation Disorder (RCD) diagnosis of one of the following:
  • PAI-1 deficiency
  • Factor I, II, V, VII, X, XI, XIII deficiencies
  • Combined FV and FVIII deficiency
  • Plasminogen deficiency
  • Decreased tissue plasminogen activator
  • Afibrinogenemia/hypofibrinogenemia/dysfibrinogenemia
  • Thrombotic Thrombocytopenia Purpura or Congenital Hemolytic Uremic Syndrome
  • Wiskott-Aldrich
  • Methylenetetrahydrofolate Reductase Deficiency
  • Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:
  • Have a bleeding phenotype as indicated by an ISTH Bleeding Assessment Tool score of ≥4 for adult males, ≥6 for adult females, or ≥3 for children younger than 18 years with an unknown diagnosis, OR
  • Connective tissue disorder with bleeding tendency as indicated by an ISTH Bleeding Assessment Tool score of ≥4 for adult males, ≥6 for adult females, or ≥3 for children younger than 18 years.
  • Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:
  • 1. Have a prior history of arterial or venous thrombosis. 2. Participants with a known congenital or acquired thrombophilia with or without thrombosis.
  • Common congenital thrombophilias: i. Protein C deficiency ii. Protein S deficiency iii. Antithrombin deficiency iv. Factor V Leiden v. Prothrombin gene mutation b. Rare genetic factors i. Hyperhomocysteinemia c. Indeterminate genetic factors i. Elevated factor VIII ii. Elevated factor IX iii. Elevated factor XI iv. Elevated lipoprotein (a) d. Acquired thrombophilias i. Lupus anticoagulant ii. Anti-cardiolipin antibodies/Beta2 glycoprotein antibodies iii. Antiphospholipid syndrome
  • Exclusion Criteria Acquired thrombophilia secondary to medications (birth control pills or hormone replacement therapy), overweight or obesity, smoking, cancer, pregnancy, surgery, injury, prolonged inactivity/bedrest, heart failure, inflammatory bowel disease, or kidney disease
  • Non-Neoplastic Hematologic Conditions Cohort
  • Participants who meet the following inclusion criteria are eligible for enrollment into this cohort:
  • 1. Having any congenital or acquired non-neoplastic hematologic disorder not included in any other cohort
  • Diagnosis of congenital hemophilia A (FVIII <40%) or hemophilia B (FIX <40% or below lower limit for age)
  • Age <18 years at time of enrollment
  • Parent or authorized guardian or legally authorized representative (LAR) can provide informed consent
  • Care established at one of the ATHN Transcends participating HTCs
  • Clotting Factor Concentrate (CFC) exposure, fresh frozen plasma (FFP), cryoprecipitate, and single donor platelets <3 exposure days (ED)
  • 1. Diagnosis of severe factor VIII deficiency with baseline factor VIII level <1% 2. Initiating or plan to initiate prophylaxis with emicizumab or factor replacement 3. Factor concentrate exposure, Fresh Frozen Plasma (FFP), cryoprecipitate, and single donor platelets ≤3 EDs 4. ≤5 years of age
  • Ability of the potential participant's legally authorized representative (e.g., their parent or legal guardian) to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use confidential health information in accordance with national and local participant privacy regulation.
  • People with severe HA with a baseline FVIII activity of less than 1%. (While inclusion for participation in ATHN Transcends lists <5% FVIII activity, this proposed module will limit enrollment to people with FVIII activity levels of <1%.) Other severities may be included per ATHN Transcends PI approval.
  • <18 years of age.
  • No history of a confirmed, positive FVIII inhibitor.
  • Sex assigned at birth of male, female, or intersex.
  • Participants should have no more than three (3) exposure days of blood products (fresh frozen plasma, cryoprecipitate, or platelets), no more than three (3) doses of any FVIII concentrate other than efanesoctocog alfa, and up to three (3) doses of efanesoctocog alfa prior to enrollment.
  • Site PI confirmed all inclusion criteria has been met.
  • Congenital or acquired hemophilia A or B of any severity with or without inhibitors receiving a current therapy, a non-factor product, or for whom use of a non-factor product is a possibility, OR
  • Females of any age, with confirmed congenital hemophilia A or B carrier status with genetic mutational analysis and any factor level.
  • Has provided signed written consent for the nonacog beta pegol (Rebinyn®)Module before any study-related activities.
  • Male participants, at any age with hemophilia B, naïve or minimally exposed (up to 3 EDs) to nonacog beta pegol treatment at time of study enrollment. Additional doses may be allowable per ATHN Transcends PI approval.
  • Decision to initiate continuous prophylaxis treatment with commercially available nonacog beta pegol has been made by the participant(s)/Legally Authorized Representative(s) (LAR(s)) and the treating physician before and independently from the decision to include the participant in this study.
  • Participant currently treated with emicizumab (Hemlibra®)
  • Currently enrolled in the Hemophilia Natural History Arm of ATHN Transcends
  • Congenital hemophilia A or B of any severity with or without inhibitors receiving a current therapy, a non-factor product, or for whom use of a non-factor product is a possibility
  • Age 18 years of age or older
  • English speaking
  • Hemophilia A or B of any severity with or without inhibitors having received or will receive a hemophilia gene transfer product in the next 6 months.
  • Age 18 years and older.
  • Able to give informed consent.
  • Etranacogene dezaparvovec (HEMGENIX®) Cohort
  • Age 18 years of age or older
  • Treatment with commercial etranacogene dezaparvovec (HEMGENIX®)
  • Have provided signed written informed consent within 3 months before or within 6 months after etranacogene dezaparvovec (HEMGENIX®) treatment, or within 6 months of when the study is initiated at the treating site.
  • FIX Prophylaxis Cohort
  • Age 18 years of age or older
  • Treatment with FIX prophylaxis therapy
  • Has provided signed written consent at any time for ATHN Transcends Study
  • Platelet adhesion defect
  • Bernard Soulier syndrome (Defective GPIb-IX-V receptor, impaired adhesion to vWF)
  • Velocardio-facial syndrome/DiGeorge syndrome (Defective GPIb-IX-V receptor)
  • Platelet type vWD (Defective GPIb-IX-V, gain of function interaction between vWF-GP1bα)
  • Platelet aggregation defect
  • Glanzmann thrombasthenia (Defective integrin αIIbβ3 (GPIIb/IIIa)
  • Platelet aggregation defect, NOS
  • Agonist receptor defects
  • Epinephrine
  • ADP
  • Collagen
  • Thromboxane A2
  • Platelet signaling defects
  • Cyclooxygenase deficiency (PTGS1 mutation)
  • Phospholipase A2 deficiency
  • Thromboxane synthase deficiency (TBXAS1 mutation)
  • G protein activation defect (GNAS mutation)
  • Scott syndrome (defect in phosphatidyl serine translocation)
  • Platelet Granule disorders
  • Dense granule storage pool disorder
  • Hermansky Pudlak syndrome
  • Chediak Higashi syndrome
  • Griscelli syndrome
  • Alpha granule storage pool disorder
  • Grey platelet syndrome
  • Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) syndrome
  • Quebec platelet disorder
  • Paris-Trousseau syndrome
  • Combined alpha delta granule deficiency
  • Platelet cytoskeletal structure defects
  • Wiskott Aldrich syndrome
  • MYH9 associated disorders (myosin heavy chain)
  • May Hegglin syndrome
  • Fechtner syndrome
  • Sebastian syndrome
  • Epstein syndrome
  • Other mutations
  • FLNA mutations (Filamin)
  • DIAPH1 (Actin and microtubules)
  • ACTN1 (alpha actinin)
  • TPM4 (tropomyosin)
  • TUBB1 (beta tubulin)
  • Other Congenital thrombocytopenias
  • Familial platelet disorders and predisposition to AML (RUNX1)
  • X linked thrombocytopenia with dyserythropoiesis (GATA1)
  • Congenital amegakaryocytic thrombocytopenia (MPL)
  • Participant has signed the informed consent/assent form
  • Participant has flow cytometry or aggregometry or genetics confirmed GT
  • Participant is willing to perform study procedures, including daily bleed tracking for 3 months and further if requested
  • Participants are 2 years or older at time of consent

Who cannot join

  • 1. Does not qualify for inclusion in a currently activedisease-specific arm; participants may be eligible to enroll as future cohorts and arms are activated; 2. Unable to give informed consent or assent 3. Unwilling to perform study procedures
  • Cohort Participant Selection
  • Each participant is to be enrolled in the cohort for which they qualify as defined below.
  • Hemophilia Cohort
  • None
  • Von Willebrand Disease Cohort
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  • None
  • Congenital Platelet Disorders Cohort
  • 1. Platelet disorders secondary to medications or other substances
  • Rare Disorders Cohort
  • None
  • Bleeding NOS Cohort
  • None
  • Thrombosis/Thrombophilia Cohort
  • Arm/Module Participant Selection
  • Previously Untreated Patients Arm
  • Concomitant diagnosis with another bleeding disorder
  • History of a confirmed, positive inhibitor
  • INHIBIT Module
  • Concomitant diagnosis with bleeding disorder other than hemophilia A
  • Immune disorder
  • Previous history or presence of factor VIII inhibitor. A confirmed, positive inhibitor is defined as two consecutive positive inhibitor titers (≥ 0.6 BU) that result in changes in treatment recommendations.
  • Efanesoctocog alfa (ALTUVIIIO®) Module
  • Not meeting all the inclusion criteria; confirmed by site PI.
  • Any exposure to blood products or FVIII replacement products except as described in the inclusion criteria.
  • History of positive inhibitor testing.
  • History of hypersensitivity reactions associated with efanesoctocog alfa administration.
  • Other coagulation disorder(s) in addition to Hemophilia A.
  • Any concurrent clinically significant major disease such as cancer that, in the opinion of the investigator, would make the participant unsuitable for enrollment.
  • Concurrent systemic treatment with chemotherapy and/or other immunosuppressant medications. Use of corticosteroids for the treatment of asthma or management of acute allergic or otherwise life-threatening episodes is allowed except for systemic corticosteroid treatment given to children daily or on an alternate day schedule at > 2 mg/kg/day of prednisone or its equivalent or > 20 mg/day if the duration is longer than 14 days.
  • Enrollment in a concurrent clinical interventional drug study.
  • Intake of an Investigational Medicinal Product within three (3) months prior to inclusion in this study.
  • Inability to comply with study requirements.
  • Other, unspecified reasons that, in the investigator's opinion, make the participant unsuitable for enrollment.
  • Hemophilia Natural History Arm
  • Presence of any known bleeding disorder other than congenital hemophilia A or B
  • Presence of concurrent hemophilia and a second hemostatic defect (low von Willebrand Factor (vWF) without vWD diagnosis is not excluded)
  • Unable or unwilling to comply with the study arm protocol.
  • Nonacog beta pegol (Rebinyn®) Module
  • Previous participation in this study. Participation is defined as having given informed consent in this study.
  • Mental incapacity, unwillingness or language barriers precluding adequate understanding or cooperation, including a diagnosis or suspicion of attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) per the discretion of the Principal Investigator.
  • Known or suspected hypersensitivity to nonacog beta pegol or related products.
  • Clinical suspicion or presence of FIX inhibitor at time of inclusion.
  • Inability or unwillingness to undergo neurological assessment/structured developmental history.
  • Emicizumab (Hemlibra®) Module
  • 1. Unable or unwilling to comply with the protocol
  • Distress Module
  • Presence of any known bleeding disorder other than congenital hemophilia A or B;
  • Presence of concurrent hemophilia and a second hemostatic defect (low von Willebrand Factor (vWF) without vWD diagnosis is not excluded); and
  • Unable or unwilling to comply with the study arm protocol
  • Hemophilia Gene Therapy Outcomes Arm
  • Etranacogene dezaparvovec (HEMGENIX®) Module
  • 1. Have been treated with etranacogene dezaparvovec in a clinical trial prior to commercial availability. These patients are still eligible for enrollment in the Gene Therapy Outcomes Arm, and their data may be collected for separate analysis.
  • Congenital Platelet Disorders Arm
  • Diagnosis of von Willebrand Disease (Meeting the definition of vWD or low vWF per most recent international guidelines)
  • Diagnosis of Hemophilia A or Hemophilia B (Factor VIII or IX ≤ 40%)
  • Glanzmann Thrombasthenia (GT) Module

Trial locations and contacts

76 sites in 1 country. Contact the study team or a site near you to ask about taking part.

Carol Fedor, ND, RN, CCRC contact

800-360-2846 ext. 122

cfedor@athn.org

Nana Ama Afari-Dwamena, MPH contact

800-360-2846 ext. 118

nafaridwamena@athn.org

76 sites in 1 country

United States76 sites, 76 recruiting

  • Akron Children's Hospital - Showers Center for Cancer & Blood Disorders

    Akron, Ohio, 44308

    Valisha Watkins, vwatkins1@akronchildrens.org

    Nicole Kendel, MD

    Recruiting

  • University of New Mexico Ted R. Montoya Hemophilia & Thrombosis Program

    Albuquerque, New Mexico, 87131

    Jessica Salazar, jtsalazar@salud.unm.edu

    Shirley Abraham, MD

    Recruiting

  • Comprehensive Bleeding Disorders Center at Emory University and Children's Healthcare of Atlanta

    Atlanta, Georgia, 30308

    Gina Aulisio, 404-778-7062, gina.aulisio@emory.edu

    Christine Kempton, MD

    Recruiting

  • Emory/Children's Health Care of Atlanta

    Atlanta, Georgia, 30322

    Simone Henry, shenry@emory.edu

    Robert Sidonio, Jr, MD

    Recruiting

  • Children's Blood and Cancer Center of Central Texas

    Austin, Texas, 78723

    Rhea Robinson, rmrobinson@ascension.org

    Arun Gurunathan, MD

    Recruiting

  • Johns Hopkins University Hemophilia Treatment Center

    Baltimore, Maryland, 21287

    Kimberly Jones, kjones62@jhmi.edu

    Jennifer Keates-Baleeiro, MD

    Recruiting

  • Massachusetts General Hospital Comprehensive Hemophilia and Thrombosis Treatment Center

    Boston, Massachusetts, 02114

    Carmen Zhou, czhou12@mgh.harvard.edu

    Eric Grabowski, MD

    Not yet recruiting

  • Western New York BloodCare

    Buffalo, New York, 14202

    Michelle Acosta, macosta@wnybloodcare.org

    Beverly Schaefer, MD

    Recruiting

  • Comprehensive Hemophilia Treatment Center, University of North Carolina at Chapel Hill

    Chapel Hill, North Carolina, 27517

    Ethan Meadows, Ethan_meadows@med.unc.edu

    Nigel Key, MD

    Recruiting

  • St. Jude Affiliate Clinic at Novant Health Hemby Children's Hospital

    Charlotte, North Carolina, 28204

    AQesha Ritzie-Spinks, aritziespinks@novanthealth.org

    Christine Bolen, MD

    Recruiting

  • Rush University Medical Center

    Chicago, Illinois, 60612

    Hinal Patel, hinal_r_patel@rush.edu

    Mindy Simpson, MD

    Recruiting

  • Cincinnati Children's Hospital Medical Center, Hemophilia & Thrombosis Center

    Cincinnati, Ohio, 45229

    Kenzie Nolte, mackenzie.nolte@cchmc.org

    Cristina Tarango, MD

    Recruiting

  • University of Cincinnati Medical Center Hemophilia Treatment Center

    Cincinnati, Ohio, 45267

    Jill Roeder, roederjr@ucmail.uc.edu

    Kristine Karkoska, MD

    Recruiting

  • University Hospitals Health System Cleveland

    Cleveland, Ohio, 44106

    George Lucas, George.Lucas@UHhospitals.org

    John Letterio, MD

    Recruiting

  • Ohio State University Medical Center

    Columbus, Ohio, 43203

    Nicolas Gallastegui Crestani, MD, 614-243-9441, nicolas.gallasteguicrestani@osumc.edu

    Nicholas Gallastegui Crestani, MD

    Recruiting

  • Nationwide Children's Hospital Columbus

    Columbus, Ohio, 43205

    Elliot Smith, elliot.smith@cchmc.org

    Amy Dunn, MD

    Recruiting

  • North Texas Hemophilia and Thrombosis Program - Pediatric Program / Center for Cancer & Blood Disorders

    Dallas, Texas, 75235

    Anna Winborn, ANNA.WINBORN@childrens.com

    Ayeshia Zia, MD

    Recruiting

  • North Texas Comprehensive Hemophilia Treatment Center

    Dallas, Texas, 75390

    Kasia Harrah, kasia.harrah@utsouthwestern.edu

    Yu-Min Shen, MD

    Recruiting

  • Dayton Children's Hemostasis and Thrombosis Center

    Dayton, Ohio, 45404

    Bethany Linegang, LinegangB@childrensdayton.org

    Jordan Wright, MD

    Recruiting

  • Central Michigan Children's Hospital of Michigan

    Detroit, Michigan, 48201

    Negin Salehi, (313) 966-8393, saleh1n@cmich.edu

    Madhvi Rajpurkar, MD

    Recruiting

  • Henry Ford Health System Bleeding and Thrombosis Treatment Center

    Detroit, Michigan, 48202

    Mary Mueller, 313-725-7791, lmuelle1@hfhs.org

    Philip Kuriakose, MD

    Recruiting

  • University of Florida Hemophilia Treatment Center

    Gainesville, Florida, 32610

    Mona Huq, 352-273-9120, monahuq@peds.ufl.edu

    Tung Wynn, MD

    Recruiting

  • Hemophilia Outreach Center Green Bay

    Green Bay, Wisconsin, 54311

    Andrea Miller, 920-965-0606, Andream@hocgb.org

    Kenneth Friedman, MD

    Recruiting

  • East Carolina University Hemophilia Treatment Center

    Greenville, North Carolina, 27834

    Danielle McCloskey, mccloskeyd19@ecu.edu

    Beng Fuh, MD

    Recruiting

  • Connecticut Children's Medical Center

    Hartford, Connecticut, 06106

    Dayna Kennedy, dkennedy@connecticutchildrens.org

    Laura McKay, MD

    Recruiting

  • Gulf States Hemophilia and Thrombophilia Center

    Houston, Texas, 77030

    Katherine Addy, 713-500-8352, Katherine.E.Addy@uth.tmc.edu

    Miguel A. Escobar, MD

    Recruiting

  • Texas Children's Hemophilia & Thrombosis Center/Baylor College of Medicine

    Houston, Texas, 77030

    Janine Starks, 832-824-4969, jxstarks@texaschildrens.org

    Clay Cohen, MD

    Recruiting

  • Northwell Health Hemostasis and Thrombosis Center at Long Island Jewish and Cohen Children's Medical Center

    Hyde Park, New York, 11040

    Mabel Origho, morigho@northwell.edu

    Suchitra Acharya, MD

    Recruiting

  • Indiana Hemophilia and Thrombosis Center

    Indianapolis, Indiana, 46260

    Nancy Hoard, nhoard@ihtc.org

    Amy Shapiro, MD

    Recruiting

  • Iowa Hemophilia and Thrombosis Center

    Iowa City, Iowa, 52242

    Alison Currie, (319) 356-4277, alison-currie@uiowa.edu

    Janice Staber, MD

    Recruiting

  • Children's Mercy Hospital - Kansas City

    Kansas City, Missouri, 64108

    Anna Wiseman, amwiseman@cmh.edu

    Shannon Carpenter, MD

    Recruiting

  • Cure 4 The Kids Foundation

    Las Vegas, Nevada, 89135

    Giany Beltron, gbeltran@cure4thekids.org

    Aimee Foord, MD

    Recruiting

  • Arkansas Center for Bleeding Disorders

    Little Rock, Arkansas, 72202

    Rachel Kelley, 501-364-1494, KelleyRachelM@uams.edu

    Shelley Crary, MD

    Recruiting

  • Orthopaedic Institute for Children HTC

    Los Angeles, California, 90007

    Christopher Chan, (213) 742-1402, christopherchan@mednet.ucla.edu

    Doris Quon, MD

    Recruiting

  • Childrens Hospital Los Angeles

    Los Angeles, California, 90027-6016

    Christina Le, chle@chla.usc.edu

    Guy Young, MD

    Recruiting

  • St. Jude Children's Research Hospital

    Memphis, Tennessee, 38105

    Margie King, margaret.king@stjude.org

    Ulrike Reiss, MD

    Recruiting

  • University of Miami Comprehensive Hemophilia Treatment Center

    Miami, Florida, 33136

    Leandro Pisani, LFP34@miami.edu

    Fernando Corrales-Medina, MD

    Recruiting

  • University of Miami Hospital and Clinics

    Miami, Florida, 33136

    Leandro Pisani, 305-243-6925, lfp34@miami.edu

    Fernando Corrales-Medina, MD

    Recruiting

  • Comprehensive Center for Bleeding Disorders

    Milwaukee, Wisconsin, 53226

    Karen Stephany, kstephany@versiti.org

    Lynn Malec, MD

    Recruiting

  • Vanderbilt University Medical Center

    Nashville, Tennessee, 37212

    Stephanie Minogue, stephanie.minogue@vumc.org

    Shannon Walker, MD

    Recruiting

  • Yale Hemophilia Treatment Center

    New Haven, Connecticut, 06520

    Lia Louizos, E.Louizos@yale.edu

    Stephanie Prozora, MD

    Recruiting

  • Louisiana Center for Bleeding and Clotting Disorders, Tulane University

    New Orleans, Louisiana, 70112

    Melody Benton, mbenton@tulane.edu

    Maissaa Janbain, MD

    Recruiting

  • Weill Cornell Medical College - New York Presbyterian Hospital

    New York, New York, 10065

    Ilene Goldberg, 212-746-3403, igoldber@med.cornell.edu

    Catherine McGuinn, MD

    Recruiting

  • Newark Beth Israel Medical Center - Hemophilia Center

    Newark, New Jersey, 07122

    Arjun Gadhiya, 973-926-3136, Arjun.Gadhiya@rwjbh.org

    Alice Cohen, MD

    Recruiting

  • Children's Hospital of Kings Daughters

    Norfolk, Virginia, 23507

    Kevin Todd, MD, 757-668-9578, kevin.toddjr@chkd.org

    Kevin Todd, MD

    Recruiting

  • UCSF Benioff Children's Hospital Oakland

    Oakland, California, 94610

    Susannah Lim, Susannah.Lim@ucsf.edu

    Alison Matsunaga, MD

    Recruiting

  • Arnold Palmer Hospital for Children - The Haley Center for Children's Cancer and Blood Disorders

    Orlando, Florida, 32806

    Stephanie Sharon, BSN, RN, stephanie.sharon@orlandohealth.com

    Amina Rafique, MD

    Not yet recruiting

  • Bleeding and Clotting Disorders Institute

    Peoria, Illinois, 61664

    Sarah Malik, sarawm@ilbcdi.org

    Jonathan Roberts, MD

    Recruiting

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104

    Praharsha Konde, kondep@chop.edu

    Leslie Raffini, MD

    Recruiting

  • Penn Comprehensive Hemophilia and Thrombophilia Program/Hospital of the University of Pennsylvania

    Philadelphia, Pennsylvania, 19104

    Karen Panckeri, 215-614-0506, Karen.Panckeri@uphs.upenn.edu

    Adam Cuker, MD

    Recruiting

  • St. Christopher's Hospital for Children

    Philadelphia, Pennsylvania, 19134

    Nataly Apollonsky, 215-427-5096, NATALY.APOLLONSKY@towerhealth.org

    Nataly Apollonsky, MD

    Recruiting

  • Arizona Hemophilia and Thrombosis Treatment Center at Phoenix Children's Hospital

    Phoenix, Arizona, 85016

    Erica Sieber, esieber@phoenixchildrens.com

    Shanna White, MD

    Recruiting

  • Hemophilia Center of Western Pennsylvania

    Pittsburgh, Pennsylvania, 15213

    Deborah Vehec, 412-209-7564, dvehec@vitalant.org

    Nicoletta Machin, MD

    Recruiting

  • Rhode Island Hospital Hemostasis and Thrombosis Center

    Providence, Rhode Island, 02903

    Asher Dillman, ADillmann@Lifespan.org

    Salley Pels, MD

    Recruiting

  • Hemostasis and Thrombosis Center of Nevada

    Reno, Nevada, 89509

    Lisa Cervantes, lisa.cervantes@htcnv.org

    Daisy Cortes, MD

    Recruiting

  • Mayo Comprehensive Hemophilia Center

    Rochester, Minnesota, 55905

    Jasmine Sexton, Sexton.Jasmine@mayo.edu

    Meera Sridharah, MD

    Recruiting

  • American Thrombosis and Hemostasis Network

    Rochester, New York, 14626

    Nana Afari-Dwamena, nafaridwamena@athn.org

    Carol Fedor, ND, RN, cfedor@athn.org

    Recruiting

  • University of California at Davis Hemophilia Treatment Center

    Sacramento, California, 95817

    Celynn Knight, ceknight@ucdavis.edu

    Kim Schafer, RN, MSN, FNP

    Recruiting

  • South Texas Comprehensive Hemophilia and Thrombophilia Treatment Center

    San Antonio, Texas, 78229

    Shawn Lade, lade@uthscsa.edu

    Deanna Maida, MD

    Recruiting

  • Loma Linda Hemoglobinopathy and Inherited Bleeding Disorder Program

    San Bernardino, California, 92408

    Rosa Rivas, 909-651-1910

    Akshat Jain, MD

    Recruiting

  • Hemophilia & Thrombosis Treatment Center at UC San Diego Health

    San Diego, California, 92121

    Isabel Chang, i3chang@health.ucsd.edu

    Annette Von Drygalski, MD

    Recruiting

  • Rady Children's Hospital San Diego

    San Diego, California, 92123

    Jacqueline Limjoco, RN, BSN, jlimjoco1@rchsd.org

    Julie Jaffray, MD

    Recruiting

  • University of California, San Francisco Hemophilia & Thrombosis Center

    San Francisco, California, 94143

    Emily Person, Emily.person@ucsf.edu

    Andrew Leavitt, MD

    Recruiting

  • Memorial Health University Medical Center

    Savannah, Georgia, 31403

    Rebekah Hagan, rebekah.hagan@hcahealthcare.com

    James Yarnall, MD, MPH

    Recruiting

  • Maine Hemophilia and Thrombosis Center

    Scarborough, Maine, 04074

    Dana Grass, Dana.Grass@mainehealth.org

    Eric Larsen, MD

    Recruiting

  • Washington Center for Bleeding Disorders

    Seattle, Washington, 98101

    Sophia Beyer, sophia.beyer@wacbd.org

    Rebecca Kruse-Jarres, MD

    Recruiting

  • The John Bouhasin Center for Children with Bleeding Disorders

    St Louis, Missouri, 63104

    Gina Martin, gina.martin@health.slu.edu

    John Puetz, MD

    Recruiting

  • Johns Hopkins All Children's Hospital

    St. Petersburg, Florida, 33701

    Dawn Harrison, FNP, dharr172@jhmi.edu

    Irmel Ayala, MD

    Recruiting

  • St. Joseph's Hospital Center for Bleeding & Clotting Disorders

    Tampa, Florida, 33607

    Cindy Manis, cindy.manis@baycare.org

    Erin Cockrell, MD

    Recruiting

  • University of South Florida - Adult

    Tampa, Florida, 33612

    Bradley Fletcher, MD, 813-974-9452, bsfletcher@usf.edu

    Bradley Fletcher, MD

    Recruiting

  • Montefiore Medical Center

    The Bronx, New York, 10461

    Ariel Levy, arlevy@montefiore.org

    Henny Billett, MD

    Recruiting

  • Northwest Ohio Hemophilia Treatment Center at the Toledo Hospital

    Toledo, Ohio, 43606

    Patricia Ahrens, 419-291-2210, patricia.ahrens@promedica.org

    Dagmar Stein, MD

    Recruiting

  • Georgetown University

    Washington D.C., District of Columbia, 20007

    Helena Jacobs, jacobsh@georgetown.edu

    Craig Kessler, MD

    Recruiting

  • Children's National Hemophilia Center

    Washington D.C., District of Columbia, 20010

    Michaela Ramandanes, 202-476-3622, mramandane@childrensnational.org

    Michael Guerrera, MD

    Recruiting

  • Delaware Hemophilia Treatment Center

    Wilmington, Delaware, 19801

    Nicole Wittmeyer, Nicole.Wittmeyer@nemours.org

    Corrina Schultz, MD

    Recruiting

  • Wake Forest University Health Sciences

    Winston-Salem, North Carolina, 27157

    Debra Holder, 336-716-9551, djholde@wakehealth.edu

    Amanda Blair, MD

    Recruiting

Other trials in United States

About this study

Official title: ATHN Transcends: A Natural History Cohort Study of the Safety, Effectiveness, and Practice of Treatment in People With Non-Neoplastic Hematologic Disorders

In parallel with the growth of ATHN's clinical studies, the number of new therapies for all blood disorders is increasing significantly. Some of the recently FDA-approved therapies for congenital and acquired hematologic conditions have not yet demonstrated long-term safety and effectiveness beyond the pivotal trials that led to their approval. In addition, results from well controlled, pivotal studies often cannot be replicated once a therapy has been approved for general use.2,3,4,5

In 2019 alone, the FDA has issued approvals for 24 new therapies for congenital and acquired hematologic conditions.6 In addition, almost 10,000 new studies for hematologic diseases are currently registered on www.clinicaltrials.gov.7

With this increase in potential new therapies possible, it is imperative that clinicians and clinical researchers in the field of non-neoplastic hematology have a uniform, secure, unbiased, and enduring method to collect long-term safety and efficacy data. As emphasized in a recently published review, accurate, uniform and quality national data collection is critical in clinical research, particularly for longitudinal cohort studies covering a lifetime of biologic risk.8

Read the detailed description

This is a longitudinal, natural history observational cohort study being conducted at approximately 150 ATHN-affiliated sites with a target accrual of 3,000 participants. Participants will be followed for a minimum of 15 years on an assigned arm within a cohort; however, arm or module participation may last longer, and participants will continue participation in the arm or module for its duration. Harmonized data elements will be collected at the time of enrollment, semi-annually (every 6 months), annually, ad hoc, and as defined by the terms of individual arms and modules. Data will be collected for participants enrolled in cohort-specific arms and modules.

Each participant will be assigned to a single cohort: Hemophilia, von Willebrand Disease, Congenital Platelet Disorders, Rare Disorders, Bleeding Not Otherwise Specified (NOS), Thrombosis/Thrombophilia, or Non-Neoplastic Hematologic Conditions.

Study arms and study modules are developed to advance the exploration of blood disorders disease specific insights by ATHN and its partners. Arms may branch off into product-specific data collection via Modules to be collected during the study, in conjunction with planned study assessments.

ATHN Transcends

Co- Principal Investigators:

Tammuella Chrisentery-Singleton, MD Ochsner Clinic Foundation American Thrombosis and Hemostasis Network

Michael Recht, MD, PhD, MBA Yale University School of Medicine National Bleeding Disorders Foundation

PUPs Arm

Principal Investigator:

Shannon Carpenter, MD, MS University of Missouri Kansas City School of Medicine Children's Mercy Hospital

ALTUVIIO Module

Principal Investigator:

Shannon Carpenter, MD, MS University of Missouri Kansas City School of Medicine Children's Mercy Hospital

INHIBIT Module

Principal Investigator:

Nicoletta Machin DO, MS Hemophilia Center of Western Pennsylvania University of Pittsburgh Medical Center

Hemophilia Natural History Arm

Principal Investigator:

Fernando Corrales-Medina, MD, FAAP University of Miami-Comprehensive Hemophilia Treatment Center University of Miami-Miller School of Medicine

Rebinyn Module

Co-Principal Investigators:

Lauren Amos, MD University of Missouri Kansas City School of Medicine Children's Mercy Hospital

Guy Young, MD University of Southern California Children's Hospital Los Angeles

Distress Module

Principal Investigator:

Tammuella Chrisentery-Singleton, MD Ochsner Clinic Foundation American Thrombosis and Hemostasis Network

Hemlibra Module

Principal Investigator:

Fernando Corrales-Medina, MD, FAAP University of Miami-Comprehensive Hemophilia Treatment Center University of Miami-Miller School of Medicine

Hemophilia Gene Therapy Outcomes Arm:

Co-Principal Investigators:

Janice M. Staber, MD Iowa Hemophilia and Thrombosis Center University of Iowa Stead Family Children's Hospital

Ulrike M. Reiss, MD Hemophilia Treatment Center St. Jude's Children's Research Hospital

HEMGENIX Module

Co-Principal Investigators:

Janice M. Staber, MD Iowa Hemophilia and Thrombosis Center University of Iowa Stead Family Children's Hospital

Ulrike M. Reiss, MD Hemophilia Treatment Center, St. Jude's Children's Research Hospital

Severe VWD Natural History Arm:

Co-Principal Investigators:

Robert F. Sidonio, Jr., MD, MSc Aflac Cancer and Blood Disorders Center, Hemophilia of Georgia Center for Bleeding and Clotting Disorders

Angela C. Weyand, MD C.S. Mott Children's Hospital, University of Michigan Medical School, Ann Arbor

Congenital Platelet Disorders Natural History Arm:

Principal Investigator Sanjay Ahuja, MD Innovative Hematology, Indiana Hemophilia \& Thrombosis Center

Glanzmann Thrombasthenia Module:

Co-Principal Investigators:

Divya Citla-Sridhar, MD University of Arkansas for Medical Sciences Arkansas Children's Hospital

Meera Chitlur, MD Central Michigan University, Children's Hospital of Michigan

Hemophilia Cohort

This cohort includes three Arms and six Modules:

Previously Untreated Patients (PUPs) Arm This is a pediatric focused Arm of PUPs with hemophilia A or B of any severity.

Efanestoctocog alfa (ALTUVIIIO®) Module The purpose is to investigate the safety, tolerability, and effectiveness of efanesoctocog alfa (ALTUVIIIO®) in PUPs with severe hemophilia A.

INHIBIT Module This is an observational study assessing the rate of inhibitor formation in young children with severe hemophilia A in the current treatment era.

Hemophilia Natural History Arm This Arm is investigating the safety, effectiveness, and practice of treatment for people with hemophilia.

Emicizumab (Hemlibra®) Module All participants treated with Hemlibra® are eligible to participate.

Distress Module Participants with Congenital Hemophilia A or B, 18 years of age or older, will be followed longitudinally for 2 years or from time of enrollment for a total planned study duration of 3 years

Nonacog beta pegol (Rebinyn®) Module The Rebinyn® Module is a prospective study in hemophilia B participants without inhibitors.

Hemophilia Gene Therapy Outcomes Arm This Arm is investigating the safety and effectiveness of gene therapy in people with hemophilia.

Etranacogene dezaparvovec (HEMGENIX®) Module This is an observational study to characterize the effectiveness and safety of HEMGENIX® in participants with hemophilia B.

Congenital Platelet Disorders (CPD) Natural History Arm:

The CPD Arm is investigating the natural history of the safety and efficacy of hemostatic therapies (such as platelet transfusions, desmopressin, antifibrinolytics, recombinant factor VIIa) in the prevention or treatment of bleeding events (on demand, surgery, prophylaxis) in adult and pediatric participants with inherited congenital platelet disorders..

Glanzmann Thrombasthenia (GT) Module:

This Module is a study of bleeding symptoms, treatments, and treatment outcomes in patients with Glanzmann thrombasthenia.

Von Willebrand Disease Cohort No arms or modules open at this time.

Rare Disorders Cohort No arms or modules open at this time.

Bleeding NOS No arms or modules open at this time.

Thrombosis/Thrombophilia No arms or modules open at this time.

Non-Neoplastic Hematologic Conditions No arms or modules open at this time.

Medical subject headings
Hematologic Diseases, Hemostatic Disorders, Connective Tissue Diseases, Hemophilia A, Thrombosis, von Willebrand Diseases, Thrombophilia, Blood Platelet Disorders

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT04398628
Study groupRoleWhat they receive
HemophiliaThis cohort includes three Arms and six Modules: Previously Untreated Patients (PUPs) Arm Efanestoctocog alfa (ALTUVIIIO®) Module INHIBIT Module Hemophilia Natural History Arm Emicizumab (Hemlibra®) Module Nonacog beta pegol (Rebinyn®)Module Distress Module Hemophilia Gene Therapy Outcomes Arm Etranacogene dezaparvovec (HEMGENIX®) Module
Congenital Platelet DisordersThis cohort includes one Arm and Module: Congenital Platelet Disorders (CPD) Natural History Arm Glanzmann Thrombasthenia (GT) Module
Von Willebrand DiseaseNo arms or modules
Rare DisordersNo arms or modules
Bleeding NOSNo arms or modules
Thrombosis/ThrombophiliaNo arms or modules
Non-Neoplastic Hematologic ConditionsNo arms or modules

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. To determine the safety of therapies used in the treatment of participants with congenital or acquired non-neoplastic, bleeding and clotting disorders and connective tissue disorders with bleeding tendency (blood disorders).

    Safety will be measured by those events in the European Safety Surveillance (EUHASS)1:

    1. Allergic or other acute events
    2. Treatment-emergent side effects of therapy
    3. Transfusion transmitted infections
    4. Inhibitor development
    5. Thrombosis
    6. Cardiovascular events
    7. Malignancies
    8. Neurological events
    9. Death

    In addition to the modified EUHASS endpoints, the following events will be collected as adverse events of special interest (AESI):

    1. The occurrence of thrombotic microangiopathies, injection site reactions and cases of potential drug-induced liver injury
    2. The development of anti-drug antibodies, to be measured and confirmed, if feasible
    3. Severe, unanticipated bleeding
    4. Hospitalizations
    5. Glomerulonephritis
    6. Any arm or module-specific AESI as stated in their corresponding Safety Assessment section

    Additional safety events of interest may be collected.

    Measured: 15 years

Secondary outcomes (5)

  1. To establish a platform to support study arms and modules for participants with blood disorders.

    For each Arm, a brief set of data elements of interests will be developed and reported for study participants.

    Measured: 15 years

  2. To describe medication dosing regimens in participants with blood disorders.

    This objective will be evaluated by:

    1. Determining the number of participants who initiate and/or switch treatment with non-factor products and participants' reasons for initiating and/or switching treatment with non-factor products
    2. Determining the number of participants who do not initiate treatment with non-factor products
    3. Determining the number of participants who switch between different non-factor products and the participants' reasons for switching non-factor products
    4. Determining the number of participants who discontinue treatment with non-factor products and participants' reasons for discontinuing treatment with non-factor products

    Measured: 15 years

  3. To describe real-world effectiveness of therapies used for participants with blood disorders.

    1. Health care utilization as measured by number and type of visits and hospitalizations per year
    2. Patient reported outcomes (PROs) as measured by the Patient Reported Outcomes Measurement Information System (PROMIS®) Profile 29/25/Parent Proxy, Global Adherence Rating (GAR) (ages 7 and older), CATCH, and EQ-5D5L

    Measured: 15 years

  4. To grow and evolve the ATHN Transcends Biorepository for current and future research through the collection of biospecimens from participants enrolled on this protocol

    All participants have the option to provide consent to have specimens stored in the ATHN Transcends Biorepository. Samples will be collected as needed, including at the Baseline Visit, Annual Visit, and at Study Exit Visit (if not collected at your Annual Visit), as funding allows.

    Measured: 15 years

  5. To describe bleeding events, changes in overall bleeding, and annualized bleeding rate (ABR) as measured by individual bleeding components.

    This objective will be calculated per ISTH Bleeding Assessment Tool (ISTH BAT), participant completed Treatment and Bleed log, and if applicable, a Pictorial Bleeding Assessment Chart (PBAC), for relevant diagnoses.

    Measured: 15 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted21 May 2020
  2. Study start30 Sep 2020
  3. Primary completionJun 2035 (estimated)
  4. Study completionDec 2035 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
3,000 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04398628
Sponsor's protocol ID
ATHN Transcends
Status last verified
Jan 2026
First submitted
11 May 2020
Last updated
17 Aug 2026
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Weijer C, Freedman B, Fuks A, Robbins J, Shapiro S, Skrutkowska M. What difference does it make to be treated in a clinical trial? A pilot study. Clin Invest Med. 1996 Jun;19(3):179-83.

    PubMed 8724821

  • Braunholtz DA, Edwards SJ, Lilford RJ. Are randomized clinical trials good for us (in the short term)? Evidence for a "trial effect". J Clin Epidemiol. 2001 Mar;54(3):217-24. doi: 10.1016/s0895-4356(00)00305-x.

    PubMed 11223318

  • West J, Wright J, Tuffnell D, Jankowicz D, West R. Do clinical trials improve quality of care? A comparison of clinical processes and outcomes in patients in a clinical trial and similar patients outside a trial where both groups are managed according to a strict protocol. Qual Saf Health Care. 2005 Jun;14(3):175-8. doi: 10.1136/qshc.2004.011478.

    PubMed 15933313

  • Unger JM, Barlow WE, Martin DP, Ramsey SD, Leblanc M, Etzioni R, Hershman DL. Comparison of survival outcomes among cancer patients treated in and out of clinical trials. J Natl Cancer Inst. 2014 Mar;106(3):dju002. doi: 10.1093/jnci/dju002. Epub 2014 Mar 13.

    PubMed 24627276

  • https://www.fda.gov/drugs/resources-information-approved-drugs/hematologyoncology-cancer-approvals-safety-notifications. Accessed 04 Jul 2019

  • https://www.clinicaltrials.gov/ct2/results?cond=Hematologic+Diseases&term=&cntry=&state=&city=&dist=. Accessed 04 Jul 2019

  • Konkle BA, Recht M; members of Working Group 2, the NHLBI State of the Science Workshop on factor VIII inhibitors: Generating a national blueprint for future research. The national blueprint for 21st century data and specimen collection and observational cohort studies: NHLBI State of the Science Workshop on factor VIII inhibitors. Haemophilia. 2019 Jul;25(4):590-594. doi: 10.1111/hae.13772.

    PubMed 31329362

  • Iorio A, Keepanasseril A, Foster G, Navarro-Ruan T, McEneny-King A, Edginton AN, Thabane L; WAPPS-Hemo co-investigator network. Development of a Web-Accessible Population Pharmacokinetic Service-Hemophilia (WAPPS-Hemo): Study Protocol. JMIR Res Protoc. 2016 Dec 15;5(4):e239. doi: 10.2196/resprot.6558.

    PubMed 27977390

Questions about this trial

What is this clinical trial studying?

An observational study of Hematologic Disorder and Bleeding Disorder, run by American Thrombosis and Hemostasis Network at 76 sites in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 127 inclusion and 57 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 17 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 76 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Carol Fedor, ND, RN, CCRC (800-360-2846 ext. 122, cfedor@athn.org), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

To determine the safety of therapies used in the treatment of participants with congenital or acquired non-neoplastic, bleeding and clotting disorders and connective tissue disorders with bleeding tendency (blood disorders). (time frame: 15 years). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04398628, which also lists 8 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Aug 2026.

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