Status:
RECRUITING
Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes
Lead Sponsor:
Sohag University
Collaborating Sponsors:
Kyoto University
Assiut University
Conditions:
Inherited BMF Syndrome
Eligibility:
All Genders
Brief Summary
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-lineag...
Detailed Description
Studying the genetic etiology underlying unclassifiable IBMFSs with bone fragility fractures should be useful for clarifying the undiagnosed pathophysiological mechanisms and other accessory factors t...
Eligibility Criteria
Inclusion
- Confirmed a two-generational family with IBMFSs presented with signs and symptoms of bone fragility fractures and admitted or treated in Hematology Division at Internal Medicine Departments of various university hospitals will be screened for enrollment in this study.
- The investigators will invite the entire family for testing for IBMFSs mutations, and three additional family members consented to participate in this study.
Exclusion
- • Patients will be diagnosed with paroxysmal nocturnal hemoglobinuria
- Patients will be diagnosed with de novo myelodysplastic syndrome
- IBMFSs-patients will refuse to consent to this study.
- Serologic evidence of recent virus infection as hepatitis A (HAV), HBV, HCV, HEV, cytomegalovirus (CMV), Epstein-Barr virus (EBV), or positive test for HIV.
- IBMFSs patients with severe systemic diseases (such as cardiovascular, renal, and hepatic disease) or surgical/medical conditions that might interfere with follow-up instructions.
- IBMFs patients with psychiatric disorders or a history of drug abuse,
Key Trial Info
Start Date :
January 10 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
January 1 2028
Estimated Enrollment :
250 Patients enrolled
Trial Details
Trial ID
NCT05436587
Start Date
January 10 2022
End Date
January 1 2028
Last Update
July 1 2022
Active Locations (1)
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1
, Faculty of Medicine, Sohag University
Sohag, Egypt, 82524