Acquired and Inherited Bone Marrow Failure Syndromes.
Colin A Sieff
https://pubmed.ncbi.nlm.nih.gov/30047424Actively Recruiting
All Genders
Healthy Volunteers
ID05436587
Identification of Novel Mutations and Comprehensive Analysis of Phenotype and Genetic Causes in Unclassifiable Inherited Bone Marrow Failure Syndromes with Bone Fragility Fractures
Led by Sohag University · Updated on 2022-07-01
250
Participants Needed
1
Research Sites
208 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 group of genetic disorders that cause problems with blood cell production, leading to low blood counts. These syndromes can appear at birth or later in life and sometimes involve bone fragility fractures. This research aims to better understand the genetic causes and characteristics of unclassifiable IBMFSs, especially those with bone fragility, to improve diagnosis, treatment, and management of patients and help prevent future complications. The study involves comprehensive genetic testing using whole-exome sequencing to identify mutations linked to IBMFSs. This testing will be performed at specialized institutions in Japan and analyzed for detailed genetic information. The study will include families with at least two generations affected by IBMFSs and bone fragility fractures, inviting multiple family members to participate in genetic testing. Participants will undergo genetic analysis and clinical evaluations to track disease progression, occurrence of fragility fractures, and potential transformation to malignancy over two years. Researchers will monitor these outcomes to better understand the disease course. The study is observational, with no experimental treatment, and participation may involve follow-up visits and data collection over time to gather comprehensive information about the condition.
CONDITIONS
Brief Title
Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes
Who Can Participate
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Families with two generations affected by inherited bone marrow failure syndromes presenting with bone fragility fractures and treated in university hospital hematology divisions will be screened.
- The entire family will be invited for genetic testing of IBMFS mutations.
- At least three additional family members must consent to participate in the study.
You will not qualify if you...
- Diagnosis of paroxysmal nocturnal hemoglobinuria.
- Diagnosis of de novo myelodysplastic syndrome.
- Refusal to consent to participate in the study.
- Recent viral infection such as hepatitis A, B, C, E, cytomegalovirus, Epstein-Barr virus, or HIV.
- Severe systemic diseases like cardiovascular, renal, or hepatic disease that interfere with follow-up.
- Psychiatric disorders or history of drug abuse.
AI-Screening
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1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Diagnostic Evaluation
Duration - Short-term, during initial evaluation
Participants undergo genetic testing through whole-exome sequencing to analyze mutations related to inherited bone marrow failure syndromes with bone fragility fractures.
1 visit (in-person)
Long-term Monitoring
Duration - Up to 2 years after diagnosis
Participants are observed over time to monitor progression of pancytopenia, fragility fractures, and potential malignancy transformation.
Periodic visits as determined by clinical care
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
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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Published Research Related To This Trial
A rare homozygous variant in TERT gene causing variable bone marrow failure, fragility fractures, rib anomalies and extremely short telomere lengths with high serum IgE.
Mahmoud I Elbadry, Ahmed Tawfeek, Tomonori Hirano...
https://pubmed.ncbi.nlm.nih.gov/37926112