Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes
Identification of The Novel Mutations and A Comprehensive Analysis of The Phenotype and Genetic Etiology Underlying Unclassifiable Inherited Bone Marrow Failure Syndromes With Bone Fragility Fractures
Sohag University
250 participants
Jan 10, 2022
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria2
- 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 Criteria6
- 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,
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Interventions
Exome sequencing will be performed at the Division of Hematopoietic Disease Control, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan and will be analyzed at Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Japan.
Locations(1)
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NCT05436587