Inherited BMF Syndrome
Conditions
Brief 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.
Detailed description
Studying the genetic etiology underlying unclassifiable IBMFSs with bone fragility fractures should be useful for clarifying the undiagnosed pathophysiological mechanisms and other accessory factors to improve the diagnosis, follow-up, prognosis, and management of these patients as well as prevent future complications. Moreover, early diagnosis of risk factors of unusual presentations of IBMFSs will be a useful tool for better treatment strategy. In addition, along with typical IBMFSs, novel clinical entities must be included in an overall molecular portrait of IBMF disorders. As a result, comprehensive genetic analysis will be effective in establishing an accurate genetic diagnosis at medical evaluation.
Interventions
GENETICThe whole-exome sequencing
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.
Sponsors
Kyoto University
Assiut University
Sohag University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* 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 criteria
* • 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,
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of Participants with Progression of pancytopenia | Two year after diagnosis | Progression of pancytopenia severity |
| Number of Participants with Fragility Fractures | Two year after diagnosis | occurrence of the Fragility Fractures |
| Number of Participants with Malignancy transformation | Two year after diagnosis | Occurrence of hematological or solid malignancy |
Countries
Egypt
Contacts
Primary ContactMahmoud I Elbadry, PhD
Outcome results
None listed