Clinical trials: Generalized Lymphatic Anomaly
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, ATP-Binding Cassette Subfamily C Member 6 Deficiency
- Trial name
- ENERGY (NCT05734196)
- Testing
- INZ-701
- Where
- 5 sites in United States, Spain and 1 more
- Volunteers
- 9 people
- Sponsor
- Inozyme Pharma
Fracture, Lengthening; Leg
Pediatric Orthopaedic Implant Safety & Efficacy
Implant devices are important tools - their use is essential across a number of orthopaedic indications, including hip conditions, trauma and limb deformity.
- Conditions
- Fracture, Lengthening; Leg, Orthopedic Disorder, Deformity of Limb
- Trial name
- Global POISE (NCT05361980)
- Testing
- Pediatric orthopaedic implant
- Where
- Canada
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Hemophilia
The Effect of Functional Activities and Balance Ability With Taping in Subjects of Hemophilia
Background Hemophilia is a sex-linked genetic disorders. When the joint or the muscles is bleeding, it may cause haemarthrosis, synovium, cartilage tissue thickening, joint activity (Range of Motion) decreasing and other…
- Trial name
- NCT02389205
- Testing
- kinesio group
- Volunteers
- 30 people
- Sponsor
- Tri-Service General Hospital (TSGH)
Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets
Natural History of GACI With or Without ARHR2 or PXE
Generalized arterial calcification of infancy (GACI) is an ultra-rare disorder with an estimated birth prevalence of around 1 in 400,000.1 GACI is generally fatal before birth or within the first six months after birth.
- Conditions
- Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets, Pseudoxanthoma Elasticum
- Trial name
- NCT03758534
- Testing
- No intervention
- Where
- Germany
- Volunteers
- 80 people
- Sponsor
- Universität Münster
Age-Related Macular Degeneration, Allergies
Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives
To collect, preserve, and/or distribute annotated biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and…
- Conditions
- Age-Related Macular Degeneration, Allergies, Alpha-Gal Syndrome, Alzheimer Disease
- Trial name
- NCT05635266
- Testing
- Specimen sample
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
Hemophilia a
EVALUATION of the OVERALL HAEMOSTATIC CAPACITY of MIM8 with GLOBAL HAEMOSTASIS ASSAYS and FIBRIN CLOT ULTRASTRUCTURE
Hemophilia A is an X linked disorder characterized by a deficiency in Factor VIII. The clinical hallmark of this disease is increased tendency to spontaneous bleeding with hemarthrosis accounting for 90% of the hemorrhages.
- Trial name
- Mim8-TGT (NCT06212505)
- Testing
- blood test
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Hospices Civils de Lyon
Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets Type2
Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)
Background: Generalized Arterial Calcification of Infancy (GACI) is a very rare disorder. It can be fatal before birth or by age 6 months. Anumber of people with GACI survive into adulthood.
- Trial name
- NCT03478839
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Lymphatic Diseases, Lymphatic Abnormalities
A Prospective Natural History Study of Lymphatic Anomalies
Background: The lymphatic system is a network of vessels that carry a clear fluid called lymph through the body. Problems in the lymphatic system can cause pain, fluid buildup, and issues with immunity.
- Trial name
- NCT05731141
- Where
- 2 sites in United States
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Primary Myelofibrosis, Polycythemia Vera
CINC424A2X01B Rollover Protocol
This is a long term safety study for patients that have been treated with either ruxolitinib or a combination of ruxolitinib with panobinostat, on a Novartis or Incyte sponsored study, who have been judged by the study…
- Conditions
- Primary Myelofibrosis, Polycythemia Vera, Graft Versus Host Disease, Acute Myeloid Leukemia
- Trial name
- NCT02386800
- Testing
- ruxolitinib, panobinostat
- Where
- 97 sites in Australia, Belgium and 23 more
- Volunteers
- 279 people
- Sponsor
- Novartis Pharmaceuticals
ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum
Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ABCC6 Deficiency Causing PXE
The purpose of this study is to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics PD) of multiple ascending doses of INZ-701, an ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) recombinant…
- Conditions
- ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum, Generalized Arterial Calcification of Infancy
- Trial name
- NCT05030831
- Testing
- INZ-701
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 10 people
- Sponsor
- Inozyme Pharma
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc
Vascular Anomaly, Generalized Lymphatic Anomaly
Identification of Biomarkers for Patients with Vascular Anomalies
The study will use blood (serum and plasma) and tissue obtained from participants undergoing prescribed surgical resection of vascular anomalies of interest proposed in this study.
- Conditions
- Vascular Anomaly, Generalized Lymphatic Anomaly, Kaposiform Hemangioendothelioma, Kaposiform Lymphangiomatosis
- Trial name
- NCT03001180
- Where
- 2 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
All Diagnosed Health Conditions, ADD/ADHD
At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
We are the missing link in clinical trials, connecting patients and researchers seamlessly and conveniently using a mobile health platform to advance medical research.
- Conditions
- All Diagnosed Health Conditions, ADD/ADHD, Alopecia Areata, Ankylosing Spondylitis
- Trial name
- NCT01931644
- Where
- United States
- Volunteers
- 17,667 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
Sickle Cell Disease, Cognitive Ability, General
Improving Parental Psychosocial Functioning and Early Developmental Outcomes in Children With Sickle Cell Disease
There are all significant risk factors for poor early cognitive development and, as such, neurocognitive deficits have been demonstrated in pre-school children with sickle cell disease (SCD).
- Conditions
- Sickle Cell Disease, Cognitive Ability, General, Psychological Stress, Parenting
- Trial name
- NCT02394899
- Testing
- Play therapy, Problem solving skills
- Where
- Jamaica
- Volunteers
- 64 people
- Sponsor
- The University of The West Indies
Pyruvate Kinase Deficiency, Pyruvate Kinase Deficiency Anemia
Pyruvate Kinase (PK) Deficiency Global Longitudinal Registry: Patient-Reported Outcomes (PRO)
The primary objective of this study is to understand and characterize the health-related quality of life (HRQoL) and disease burden of adult participants with PK deficiency receiving routine clinical care.
- Conditions
- Pyruvate Kinase Deficiency, Pyruvate Kinase Deficiency Anemia, Anemia, Anemia, Hemolytic
- Trial name
- PKD (NCT04964323)
- Where
- 5 sites in United States, Italy and 3 more
- Volunteers
- 15 people
- Sponsor
- Agios Pharmaceuticals, Inc.
Hemophilia a, Hemophilia B
Hemophilia Non-Interventional Study Prior to SerpinPC Intervention (PRESent-5)
The primary objective of this study is to obtain prospective baseline documentation of annualized bleeding rates (ABRs) and treatment under standard-of-care (SOC) therapy among participants with hemophilia A or B.
- Trial name
- NCT05605678
- Testing
- No Intervention
- Where
- 45 sites in United States, Armenia and 14 more
- Volunteers
- 108 people
- Sponsor
- ApcinteX Ltd
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Factor XI Deficiency, Factor XII Deficiency
The Proteins of the Contact Activation System
Cardiovascular diseases are important causes of morbidity and mortality in the industrialized world. Abnormalities in the coagulation system, causing a hypercoagulable state, are a known risk factor for arterial and venous…
- Trial name
- CONTACT (NCT02785718)
- Testing
- Global Haemostasis assays
- Where
- France
- Volunteers
- 18 people
- Sponsor
- Hospices Civils de Lyon
Hereditary Hemorrhagic Telangiectasia (HHT)
Frequency of Common Medical Conditions in People With and Without HHT
Hereditary Hemorrhagic Telangiectasia (HHT) affects 1 in 5,000 people. The purpose of this study is to provide data regarding the frequency of common health conditions and the tolerability of therapies in HHT by using a…
- Trial name
- NCT02464644
- Testing
- Questionnaire
- Where
- United Kingdom
- Volunteers
- 2,174 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Post-Acute COVID-19 Syndrome, ME/CFS
Unhide® Project: A Digital Health Platform to Collect Lifestyle Data for Brain Inflammation Research
The unhide® Project is a non-interventional, longitudinal research study designed to establish a secure data repository of demographic, health, and lifestyle information from individuals with brain inflammation and related…
- Conditions
- Post-Acute COVID-19 Syndrome, ME/CFS, Rheumatic Arthritis, Juvenile Rheumatoid Arthritis (JRA)
- Trial name
- NCT04806620
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Brain Inflammation Collaborative