Exploring genetic causes of inherited bone marrow failure syndromes

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• , 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.