Inherited BMF SyndromeNCT05436587
Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes
An observational study of Inherited BMF Syndrome, run by Sohag University at 1 site in Egypt.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Inherited BMF Syndrome
- What is being tested?
- The whole-exome sequencing
- How many people
- 250 participants
- Where
- 1 siteEgypt
- Study dates
- 10 Jan 2022to Jan 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- • 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,
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Egypt1 site, 1 recruiting
- Recruiting
, Faculty of Medicine, Sohag University
Sohag, 82524
Mahmoud I. Elbadry, MD, PhD, +01065964083, mahmoudibrahim@med.sohag.edu.eg
About this study
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
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.
Read the 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
- Being tested
- The whole-exome sequencing
- Medical subject headings
- Congenital Bone Marrow Failure Syndromes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
The whole-exome sequencingGenetic
Also called Radiologic assessment, Histopathological studies of BM biopsies, • Chromosomal fragility testing
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants with Progression of pancytopenia
Progression of pancytopenia severity
Measured: Two year after diagnosis
Number of Participants with Fragility Fractures
occurrence of the Fragility Fractures
Measured: Two year after diagnosis
Number of Participants with Malignancy transformation
Occurrence of hematological or solid malignancy
Measured: Two year after diagnosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jun 2022
- Study start10 Jan 2022
- Primary completionJan 2024 (estimated)
- Study completionJan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Inherited BMF SyndromeStudies of the same condition, open and under way.
- More trials run by Sohag UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 250 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sohag University
- Sponsor type
- University, hospital or other
- Collaborators
- Kyoto University, Assiut University
- Responsible party
- Principal investigator, Mahmoud Ibrahim Yousef, Sohag University
- Investigators
- Mahmoud I Yousef, PhD, Principal investigator, Faculty of Medicine, Sohag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05436587
- Sponsor's protocol ID
- Soh-Med-22-01-40
- Status last verified
- Jun 2022
- First submitted
- 23 Jun 2022
- Last updated
- 1 Jul 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 30047424Elbadry 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.
PubMed 37926112
Study at a glance
From the registry record, last updated by the sponsor on 1 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT05436587
- Acronym / sponsor ID
- Soh-Med-22-01-40
- Conditions
- Inherited BMF Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 250 participants (estimated)
- Lead sponsor
- Sohag UniversityUniversity, hospital or other
- Collaborators
- Kyoto University, Assiut University
- Study start
- 10 Jan 2022 (actual)
- Primary completion
- Jan 2024 (estimated)
- Study completion
- Jan 2028 (estimated)
- First posted
- 29 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (6 listed)
- • Patients will be diagnosed with paroxysmal nocturnal hemoglobinuria
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| The whole-exome sequencingAlso: Radiologic assessment, Histopathological studies of BM biopsies, • Chromosomal fragility testingExome 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. | Genetic | – |
Primary outcome
Number of Participants with Progression of pancytopenia
Time frame: Two year after diagnosis
Progression of pancytopenia severity
Number of Participants with Fragility Fractures
Time frame: Two year after diagnosis
occurrence of the Fragility Fractures
Number of Participants with Malignancy transformation
Time frame: Two year after diagnosis
Occurrence of hematological or solid malignancy
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Jul 2022.
- Results publication: PubMed 30047424Sieff 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.
- Derived from this study: PubMed 37926112Elbadry 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Mahmoud I Yousef, PhD principal investigator
Faculty of Medicine, Sohag University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inherited BMF Syndrome, run by Sohag University at 1 site in Egypt.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Mahmoud I Elbadry, PhD (+201065964083, mahmoudibrahem837@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants with Progression of pancytopenia (time frame: Two year after diagnosis). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05436587, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Jul 2022.