Exploring genetic causes of inherited bone marrow failure syndromes
Identification of The Novel Mutations and A Comprehensive Analysis of The Phenotype and Genetic Etiology Underlying Unclassifiable Inherited Bone Marrow Failure Syndromes With Bone Fragility Fractures
This study is testing the genetic causes of inherited bone marrow failure syndromes to help improve diagnosis and treatment for people with these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 250 (estimated) |
| Sex | All |
| Sponsor | Sohag University Academic / other |
| Locations | 1 site (Sohag) |
| Trial ID | NCT05436587 on ClinicalTrials.gov |
What this trial studies
This study investigates the genetic factors associated with unclassifiable inherited bone marrow failure syndromes (IBMFSs) that lead to bone fragility fractures. By conducting whole-exome sequencing on affected families, the research aims to clarify the underlying pathophysiological mechanisms and improve diagnosis, management, and prognosis for patients. The study also seeks to identify novel clinical entities within the spectrum of IBMFSs to enhance treatment strategies and prevent complications.
Who should consider this trial
Good fit: Ideal candidates include families with confirmed cases of IBMFSs showing signs of bone fragility fractures.
Not a fit: Patients diagnosed with paroxysmal nocturnal hemoglobinuria or de novo myelodysplastic syndrome may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic accuracy and management strategies for patients with inherited bone marrow failure syndromes.
How similar studies have performed: While similar studies have explored genetic causes of bone marrow failure, this specific focus on unclassifiable IBMFSs is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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,
Where this trial is running
Sohag
- , Faculty of Medicine, Sohag University — Sohag, Egypt (Recruiting)
Study contacts
- Principal investigator: Mahmoud I Yousef, PhD — Faculty of Medicine, Sohag University
- Study coordinator: Mahmoud I Elbadry, PhD
- Email: mahmoudibrahem837@gmail.com
- Phone: +201065964083
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.