Actively Recruiting

All Genders
Healthy Volunteers
NCT05436587

Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

Led by Sohag University · Updated on 2022-07-01

250

Participants Needed

1

Research Sites

311 weeks

Total Duration

On this page

Sponsors

S

Sohag University

Lead Sponsor

K

Kyoto University

Collaborating Sponsor

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

Who Can Participate

All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Confirmed two-generational family with inherited bone marrow failure syndromes presenting bone fragility fractures and treated in Hematology Division at university hospitals
  • Entire family invited for testing for IBMFS mutations with at least three additional family members consenting to participate
Not Eligible

You will not qualify if you...

  • Diagnosis of paroxysmal nocturnal hemoglobinuria
  • Diagnosis of de novo myelodysplastic syndrome
  • Refusal to consent to this study
  • Recent infection with hepatitis A, B, C, E, cytomegalovirus, Epstein-Barr virus, or HIV
  • Severe systemic diseases such as cardiovascular, kidney, or liver disease
  • Psychiatric disorders or history of drug abuse

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

, Faculty of Medicine, Sohag University

Sohag, Egypt, 82524

Actively Recruiting

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Research Team

M

Mahmoud I Elbadry, PhD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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