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Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

Recruitingn/aAges any - anyAllSohag University
NCT05436587 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 manifest itself at birth or later in life.

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📋 Eligibility rules (as published)
Inclusion Criteria: * 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 Criteria: * • 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,
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What it tests

  • The whole-exome sequencing
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Where

1 site
, Faculty of Medicine, Sohag University
Sohag, Egypt
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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