Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

NCT05436587 | Recruiting DMC

• 1 other identifier: Soh-Med-22-01-40
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

Brief 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

Outcome Measures

Primary Outcomes (3)

• Number of Participants with Progression of pancytopenia

  Progression of pancytopenia severity

  Two year after diagnosis

• Number of Participants with Fragility Fractures

  occurrence of the Fragility Fractures

  Two year after diagnosis

• Number of Participants with Malignancy transformation

  Occurrence of hematological or solid malignancy

  Two year after diagnosis

Interventions

The whole-exome sequencing GENETIC

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.

Also known as: Radiologic assessment, Histopathological studies of BM biopsies, • Chromosomal fragility testing

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The candidate patients who will have evidence of unclassifiable IBMFSs and/or will present with manifestations suggesting IBMFSs and agree to comply with follow-up instructions will be screened for enrollment in this study.

You may qualify if:

• 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.

You may not qualify if:

• 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,

Sponsors & Collaborators

• Sohag University: lead
• Kyoto University: collaborator
• Assiut University: collaborator

Study Sites (1)

, Faculty of Medicine, Sohag University

Sohag, 82524, Egypt

RECRUITING

Related Publications (2)

• Sieff CA. Acquired and Inherited Bone Marrow Failure Syndromes. Hematol Oncol Clin North Am. 2018 Aug;32(4):xiii-xiv. doi: 10.1016/j.hoc.2018.05.001. No abstract available.

  PMID: 30047424 RESULT

• Elbadry MI, Tawfeek A, Hirano T, El-Mokhtar MA, Kenawey M, Helmy AM, Ogawa S, Mughal MZ, Nannya Y. A rare homozygous variant in TERT gene causing variable bone marrow failure, fragility fractures, rib anomalies and extremely short telomere lengths with high serum IgE. Br J Haematol. 2024 Mar;204(3):1086-1095. doi: 10.1111/bjh.19176. Epub 2023 Nov 5.

  PMID: 37926112 DERIVED

MeSH Terms

Conditions

Congenital Bone Marrow Failure Syndromes

Condition Hierarchy (Ancestors)

Bone Marrow Failure Disorders; Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Infant, Newborn, Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Mahmoud I Yousef, PhD

  Faculty of Medicine, Sohag University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mahmoud I Elbadry, PhD

CONTACT

+201065964083; mahmoudibrahem837@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: June 23, 2022
• First Posted: June 29, 2022
• Study Start: January 10, 2022
• Primary Completion: January 1, 2024
• Study Completion (Estimated): January 1, 2028
• Last Updated: July 1, 2022

Record last verified: 2022-06

Data Sharing

• IPD Sharing: Will not share

Locations

EG (1)