Clinical trials: Inherited Bone Marrow Failure Syndrome, open to volunteers
Severe Aplastic Anemia, Telomere Biology Disorders
Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
Background: Bone marrow failure diseases are rare. Much is known about the diseases at the time of diagnosis, but long-term data about the effects of the diseases and treatments are lacking.
- Conditions
- Severe Aplastic Anemia, Telomere Biology Disorders, Inherited Bone Marrow Failure Syndromes
- Trial name
- NCT05012111
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Inherited Bone Marrow Failure Syndrome, Familial Platelet Disorder With Predisposition to Myeloid Malignancies
Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency
Background: Runt-related transcription factor 1 (RUNX1) gene regulates the formation of blood cells. People with mutations of this gene may bleed or bruise easily; they are also at higher risk of getting cancers of the blood…
- Trial name
- NCT06090669
- Testing
- TruSight Oncology, imatinib
- Where
- United States
- Volunteers
- 71 people, healthy volunteers welcome
- 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)
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
Fanconi Anemia, Inherited Bone Marrow Failure Syndrome
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Background: Fanconi anemia (FA) is an inherited disorder. People with FA are more likely to get certain cancers, especially squamous cell carcinoma (SCC).
- Trial name
- NCT05687149
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Cancer Institute (NCI)
Leukemia, High Risk Acute Lymphoblastic Leukemia
Phase 1/2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab/CD19 Depleted HSCT
The major morbidities of allogeneic hematopoietic stem cell transplant (HSCT) using donors that are not human leukocyte antigen (HLA) matched siblings are graft vs host disease (GVHD) and life- threatening infections.
- Conditions
- Leukemia, High Risk Acute Lymphoblastic Leukemia, High Risk Acute Myeloid Leukemia, Relapse Leukemia
- Trial name
- NCT06839456
- Testing
- Phase 1 Dose Level 1, Phase 1 Dose Level 2, Phase 1 Dose Level 3
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Children's Hospital of Philadelphia
Myeloid Malignancy, Inherited Bone Marrow Failure Syndrome
Pre-myeloid Cancer and Bone Marrow Failure Clinic Study
This clinical trial tests next generation sequencing (NGS) for the detection of precursor features of pre-myeloid cancers and bone marrow failure syndromes.
- Conditions
- Myeloid Malignancy, Inherited Bone Marrow Failure Syndrome, Clonal Expansion, Cytopenia
- Trial name
- NCT02958462
- Testing
- Biospecimen Collection, Bone Marrow Biopsy, Punch Biopsy
- Where
- 3 sites in United States
- Volunteers
- 2,000 people
- Sponsor
- Mayo Clinic
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- PRO-RIC (NCT04528355)
- Testing
- data collection
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Paul Szabolcs
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
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
Inherited BMF Syndrome, Inherited Platelet Disorder
Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
This project seeks to perform whole genome sequence (WGS) and whole transcriptome sequence (WTS) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (IBMFS-RD) in order to increase…
- Conditions
- Inherited BMF Syndrome, Inherited Platelet Disorder, Hematologic Diseases
- Trial name
- IBMDx (NCT05196789)
- Testing
- whole genome and transcriptome sequencing
- Where
- Australia
- Volunteers
- 350 people
- Sponsor
- Peter MacCallum Cancer Centre, Australia
Inherited BMF Syndrome
Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes
Inherited bone marrow failure syndromes (IBMFSs) are a diverse collection of genetic illnesses characterized by various degrees of peripheral cytopenias due to defective single-lineage or multi-lineage hematopoiesis, it can…
- Trial name
- NCT05436587
- Testing
- The whole-exome sequencing
- Where
- Egypt
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Sohag University