NCT05436587

Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

Identification of The Novel Mutations and A Comprehensive Analysis of The Phenotype and Genetic Etiology Underlying Unclassifiable Inherited Bone Marrow Failure Syndromes With Bone Fragility Fractures

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 250 (estimated)
• Sponsor: Sohag University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

Conditions

• Inherited BMF Syndrome

Interventions

Type	Name	Description
GENETIC	The 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.

Timeline

• Start date: 2022-01-10
• Primary completion: 2024-01-01
• Completion: 2028-01-01
• First posted: 2022-06-29
• Last updated: 2022-07-01

Locations

1 site across 1 country: Egypt