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
Qualifiers
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 design
Treatments tested in this trial
- The whole-exome sequencing
Treatment groups
No treatment groups listed
Sponsors and collaborators
Source ClinicalTrials.gov