MedTrace Logo

Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

NCT05436587 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 250

Last updated 2022-07-01

No results posted yet for this study

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.

Conditions

  • Inherited BMF Syndrome

Interventions

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.

Sponsors & Collaborators

  • Kyoto University

    collaborator OTHER

  • Assiut University

    collaborator OTHER

  • Sohag University

    lead OTHER

Principal Investigators

  • Mahmoud I Yousef, PhD · Faculty of Medicine, Sohag University

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-01-10
Primary Completion
2024-01-31
Completion
2028-01-31

Countries

  • Egypt

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05436587 on ClinicalTrials.gov