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Recruiting NCT05436587

Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

— Observational Inherited BMF Syndrome

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: The whole-exome sequencing.
Who it may be relevant to
Registry conditions: Inherited BMF Syndrome. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Egypt
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

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

Overview

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.

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.

Primary outcome measures

  • Number of Participants with Progression of pancytopenia [Time frame: Two year after diagnosis]
  • Number of Participants with Fragility Fractures [Time frame: Two year after diagnosis]
  • Number of Participants with Malignancy transformation [Time frame: Two year after diagnosis]

Eligibility criteria

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,

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Cohort

Study locations

Egypt · 1 center
  • , Faculty of Medicine, Sohag University — Sohag

Publications

  • 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
  • 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

Identifiers

NCT: NCT05436587 · Soh-Med-22-01-40

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗