Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

Recruiting

• Conditions: Inherited BMF Syndrome

• Registration Number: NCT05436587
• Lead Sponsor: Sohag University

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-lineage hematopoiesis, it can manifest itself at birth or later in life.

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 to improve the diagnosis, follow-up, prognosis, and management of these patients as well as prevent future complications.

Moreover, early diagnosis of risk factors of unusual presentations of IBMFSs will be a useful tool for better treatment strategy.

In addition, along with typical IBMFSs, novel clinical entities must be included in an overall molecular portrait of IBMF disorders. As a result, comprehensive genetic analysis will be effective in establishing an accurate genetic diagnosis at medical evaluation.

Basic Information
|
Recruitment & Eligibility
|
Study & Design
|
Trial Locations

Study Timeline

• Study Start: 2022-01-10
• Status Verified: 2022-06
• Study First Submitted: 2022-06-23
• Study First Submitted QC: 2022-06-23
• Last Update Submitted: 2022-06-28
• Study First Posted: 2022-06-29
• Last Update Posted: 2022-07-01
• Primary Completion: 2024-01
• Study Completion: 2028-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 250

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.

Read More

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,

Read More

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of Participants with Progression of pancytopenia	Two year after diagnosis	Progression of pancytopenia severity
Number of Participants with Fragility Fractures	Two year after diagnosis	occurrence of the Fragility Fractures
Number of Participants with Malignancy transformation	Two year after diagnosis	Occurrence of hematological or solid malignancy

Trial Locations

Locations (1)

, Faculty of Medicine, Sohag University; 🇪🇬 Sohag, Egypt