Clinical trials: Dyskeratosis Congenita
Bone Marrow Failure Syndromes, Erythrocyte Disorder
Investigation of the Genetics of Hematologic Diseases
The purpose of this study is to collect and store samples and health information for current and future research to learn more about the causes and treatment of blood diseases.
- Conditions
- Bone Marrow Failure Syndromes, Erythrocyte Disorder, Leukocyte Disorder, Hemostasis
- Trial name
- NCT02720679
- Where
- United States
- Volunteers
- 1,716 people
- Sponsor
- St. Jude Children's Research Hospital
Dyskeratosis Congenita, Fanconi Anemia
Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
RATIONALE: Studying biopsy, bone marrow, and blood samples from patients with cytopenia that did not respond to treatment may help doctors learn more about the disease and plan the best treatment.
- Conditions
- Dyskeratosis Congenita, Fanconi Anemia, Myelodysplastic Syndromes, Pearson Marrow-pancreas Syndrome
- Trial name
- NCT00499070
- Testing
- polymerase chain reaction, flow cytometry, immunologic technique
- Where
- 10 sites in Austria, Belgium and 8 more
- Volunteers
- 119 people
- Sponsor
- University Hospital Freiburg
Dyskeratosis Congenita, Aplastic Anemia
Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA
Transplantation with stem cells is a standard therapy in many centers around the world. Previous experience with stem cell transplantation therapy for leukemias, lymphomas, other cancers, aplastic anemia and other non-malignant…
- Trial name
- NCT00455312
- Testing
- Campath 1H, Cyclophosphamide, Fludarabine
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Dyskeratosis Congenita, Aplastic Anemia
Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
Fludarabine-based preparative regimen followed by an allogeneic hematopoietic stem cell transplant using related or unrelated donor in persons 0-70 years of age diagnosed with dyskeratosis congenita or severe aplastic anemia who…
- Trial name
- NCT02162420
- Testing
- Alemtuzumab, Fludarabine, Cyclophosphamide
- Where
- United States
- Volunteers
- 61 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Shwachman Syndrome, Fanconi's Anemia
Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure…
- Conditions
- Shwachman Syndrome, Fanconi's Anemia, Dyskeratosis Congenita, Thrombocytopenia
- Trial name
- NCT00004787
- Testing
- filgrastim
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Pulmonary Fibrosis, Telomere Shortening
The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis
TELO-SCOPE is a national, multi-centre, double-blind, placebo-controlled, randomised (2:1) trial which will test the hypothesis that, compared to placebo, the addition of danazol to standard of care in pulmonary fibrosis…
- Conditions
- Pulmonary Fibrosis, Telomere Shortening, Telomere Disease, Dyskeratosis Congenita
- Trial name
- NCT04638517
- Testing
- Danazol
- Where
- 9 sites in Australia
- Volunteers
- 29 people
- Sponsor
- The University of Queensland
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
Inherited Bone Marrow Failure Syndrome, Fanconi Anemia
Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data
A non-profit, translational, prospective and retrospective study. Patients will be enrolled according to the procedures described in the protocol, and samples will be processed and analyzed as specified in the protocol.
- Conditions
- Inherited Bone Marrow Failure Syndrome, Fanconi Anemia, Dyskeratosis Congenita, Telomere Biology Disorder
- Trial name
- 2023-12377081 (NCT07877727)
- Where
- 4 sites in Italy
- Volunteers
- 250 people
- Sponsor
- Istituto Giannina Gaslini
Primary Immune Deficiency Disorder, Immune Deficiency Disease
Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
Phase II prospective trial to assess the rates of donor engraftment using reduced intensity conditioning (RIC) hematopoietic stem cell transplant (HSCT) and post-transplant cyclophosphamide (PTCy) for patients with primary immune…
- Conditions
- Primary Immune Deficiency Disorder, Immune Deficiency Disease, Bone Marrow Failure, Short Telomere Length
- Trial name
- NCT04232085
- Testing
- Alemtuzumab, Fludarabine, Melphalan
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Fanconi Anemia, Dyskeratosis Congenita
Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
Fanconi anemia (FA) and Dyskeratosis congenita (DC) are inherited bone marrow failure syndromes. The current androgen treatments (e.g., oxymetholone) used to treat FA and DC can cause unwanted masculinizing side effects…
- Trial name
- NCT01001598
- Testing
- danazol
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Boston Children's Hospital
Dyskeratosis Congenita, Telomere Biology Disorders
Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)
Background: DC and related TBDs are a group of illnesses caused by variants in genes that regulate telomeres. These illnesses can cause problems with the skin and mucous membranes.
- Trial name
- NCT04959188
- Where
- United States
- Volunteers
- 53 people
- Sponsor
- National Cancer Institute (NCI)
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Fanconi Anemia, Severe Aplastic Anemia
Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders
This is a phase II trial of T cell receptor alpha/beta depletion (α/β TCD) peripheral blood stem cell (PBSC) transplantation in patients with inherited bone marrow failure (BMF) disorders to eliminate the need for routine…
- Conditions
- Fanconi Anemia, Severe Aplastic Anemia, Myelodysplastic Syndromes, T Cell Receptor Alpha/Beta Depletion
- Trial name
- NCT03579875
- Testing
- Total Body Irradiation (TBI) (Plan 1), Cyclophosphamide (CY) (Plan 1), Fludarabine (FLU)
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Hurler Syndrome, Fanconi Anemia
Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
This is a single arm, phase I study to assess the tolerability of abatacept when combined with cyclosporine and mycophenolate mofetil as graft versus host disease prophylaxis in children undergoing unrelated hematopoietic stem…
- Conditions
- Hurler Syndrome, Fanconi Anemia, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome
- Trial name
- NCT01917708
- Testing
- Abatacept
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emory University
Dyskeratosis Congenita, Telomere Disease
Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD)
The purpose of this study is to see if a vitamin-like substance called quercetin is safe for people who have a rare condition called Dyskeratosis congenita (DC) or telomere biology disorders (TBD).
- Trial name
- NCT07628972
- Testing
- Quercetin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Non-Neoplastic Hematologic and Lymphocytic Disorder
Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders
This phase II clinical trial studies how well treosulfan and fludarabine phosphate with or without low dose radiation before donor stem cell transplantation works in treating patients with nonmalignant (noncancerous) diseases.
- Trial name
- NCT00919503
- Testing
- Allogeneic Bone Marrow Transplantation, Anti-Thymocyte Globulin, Cyclosporine
- Where
- 6 sites in United States
- Volunteers
- 98 people
- Sponsor
- Fred Hutchinson Cancer Center
Severe Combined Immunodeficiency, Fanconi Anemia
Expanded Access to CD34+ Selection Utilizing Miltenyi CliniMACS Prodigy® for Patients Receiving Peripheral Blood Stem Cell Transplantations and Stem Cell Boosts
Allogeneic stem cell transplantation (alloSCT) is utilized for various underlying diseases. AlloSCT is limited by graft versus host disease (GVHD), graft rejection, viral infections, and post-transplant lymphoproliferative…
- Conditions
- Severe Combined Immunodeficiency, Fanconi Anemia, Dyskeratosis Congenita, Sickle Cell Disease
- Trial name
- NCT06731036
- Testing
- CD34+ cell enriched stem cell graft
- Sponsor
- University of Florida
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Thalassemia, Sickle Cell Disease
Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
Allogeneic blood and marrow transplantation remains the only viable cure for children who suffer from many serious non-malignant hematological diseases. Transplantation, however, carries a high risk of fatal complications.
- Conditions
- Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome
- Trial name
- NCT01319851
- Testing
- Alefacept
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Emory University