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Clinical Trial 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.


Clinical Trial 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. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT05436587
Study type Observational
Source Sohag University
Contact Mahmoud I Elbadry, PhD
Phone +201065964083
Email mahmoudibrahem837@gmail.com
Status Recruiting
Phase
Start date January 10, 2022
Completion date January 2028