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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.
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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.
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• Patients will be diagnosed with paroxysmal nocturnal hemoglobinuria
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Mahmoud I Elbadry, PhD
Data sourced from clinicaltrials.gov
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