Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

• Sponsor: Sohag University (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT05436587
• Collaborator: Kyoto University (Other), Assiut University (Other)
• Enrollment: 250
• Location: 1
• Anticipated Duration (Months): 71.7
• Patients Per Site Per Month: 3.5

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Inherited BMF Syndrome	Genetic: The whole-exome sequencing

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.

Study Design

• Study Type: Observational
• Anticipated Enrollment: 250 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: 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
• Actual Study Start Date: Jan 10, 2022
• Anticipated Primary Completion Date: Jan 1, 2024
• Anticipated Study Completion Date: Jan 1, 2028

Outcome Measures

Primary Outcome Measures

1. Number of Participants with Progression of pancytopenia [Two year after diagnosis]

   Progression of pancytopenia severity

2. Number of Participants with Fragility Fractures [Two year after diagnosis]

   occurrence of the Fragility Fractures

3. Number of Participants with Malignancy transformation [Two year after diagnosis]

   Occurrence of hematological or solid malignancy

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes

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,

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	, Faculty of Medicine, Sohag University	Sohag		Egypt	82524

Sponsors and Collaborators

• Sohag University
• Kyoto University
• Assiut University

Investigators

• Principal Investigator: Mahmoud I Yousef, PhD, Faculty of Medicine, Sohag University

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Mahmoud Ibrahim Yousef, Principal Investigator, Sohag University
• ClinicalTrials.gov Identifier: NCT05436587
• Other Study ID Numbers: Soh-Med-22-01-40
• First Posted: Jun 29, 2022
• Last Update Posted: Jul 1, 2022
• Last Verified: Jun 1, 2022

• Individual Participant Data (IPD) Sharing Statement: No
• Plan to Share IPD: No
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Bone Marrow Failure Disorders; Pancytopenia; Congenital Bone Marrow Failure Syndromes; Syndrome

Study Results

No Results Posted as of Jul 1, 2022