Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

  • End date
    Jan 14, 2028
  • participants needed
  • sponsor
    Sohag University
Updated on 4 October 2022
Accepts healthy volunteers


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.


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.

Condition Inherited BMF Syndrome
Treatment The whole-exome sequencing
Clinical Study IdentifierNCT05436587
SponsorSohag University
Last Modified on4 October 2022


Yes No Not Sure

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
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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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