Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes
ConditionInherited BMF Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorSohag University
About this trial
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 criteria
This trial accepts healthy volunteersQualifiers
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.
Disqualifiers
• 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.
Trial population
The candidate patients who will have evidence of unclassifiable IBMFSs and/or will present with manifestations suggesting IBMFSs and agree to comply with follow-up instructions will be screened for enrollment in this study.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
The whole-exome sequencing
GeneticExome 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.
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
Number of Participants with Progression of pancytopenia
Progression of pancytopenia severity
Time frame
Two year after diagnosis2
Number of Participants with Fragility Fractures
occurrence of the Fragility Fractures
Time frame
Two year after diagnosis3
Number of Participants with Malignancy transformation
Occurrence of hematological or solid malignancy
Time frame
Two year after diagnosisSponsors and contacts
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Source ClinicalTrials.gov