Actively Recruiting
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
Eligibility Criteria
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
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
Trial Site Locations
Total: 1 location
1
, Faculty of Medicine, Sohag University
Sohag, Egypt, 82524
Actively Recruiting
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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