Genetic Predisposition to DiseaseAHC-EHVolNCT05661305
Aswan Heart Centre - Egyptian Healthy Volunteers
An observational study of Genetic Predisposition to Disease, run by Magdi Yacoub Heart Foundation at 1 site in Egypt.
Trial summary
To define the genotype of a healthy Egyptian cohort as a crucial step in determining the possible clinical implications of mutations detected in patients recruited in the registry. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Genetic Predisposition to Disease
- What is being tested?
- Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients.
- How many people
- 1,000 participants
- Where
- 1 siteEgypt
- Study dates
- 1 Jan 2019to 31 Jan 2030
- How long will I take part?
- 5 Years
- 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 1000 adult Egyptian citizen subjects that considers themselves free of cardiovascular disease.
Who may be able to join
- Any adult Egyptian citizen subject that considers him/herself free of cardiovascular disease.
Who cannot join
- Individuals under 18 years of age
- Known cardiovascular disease
- Known collagen vascular disease
- Individuals with communication difficulties, or who do not wish to participate
- Pregnancy
- Contraindication to MRI
Show all 11Show fewer
- Family history of sudden death
- Family history of a familial cardiomyopathy
- Family history of premature coronary artery disease (males <40 years, females <50 years).
- Withdrawal Criteria:
- Withdrawal of consent.
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
Aswan Heart Centre - Magdi Yacoub Heart Foundation
Aswān
Ahmed M ElGuindy, MD, MRCP, +201001615151, ahmed_elguindy@hotmail.com
Shehab M Anwer, MD, +41788816333, shehabanwer@gmail.com
About this study
To define the genotype of a healthy Egyptian cohort as a crucial step in determining the possible clinical implications of mutations detected in patients recruited in the registry.
Read the detailed description
A key objective of the existing Cardiomyopathies project is to develop and validate assays to identify the genetic and molecular determinants of inherited cardiomyopathies in the Egyptian population.
Current sequencing technology has made cost- and time-effective whole exome and whole genome sequencing feasible. In their attempt to make clinically-relevant conclusions, genetecists, clinicians and bioinformaticians are increasingly faced by thousands of polymorphisms and variants, the clinical significance of which requires careful and systematic analysis of a number of factors including location of the mutation within the genome, type of mutation, gene affected and the protein for which it codes, functional importance of the coded protein, segregation within the family as well as frequency of the detected variation in the same population.
The latter step requires defining what constitutes the "genetic norm" (including normal variants) within the reference population. Data for different populations is already available in a number of databases that are accessible to the scientific community to help maximize the public benefit from research. Examples include the Exome Aggregation Consortium (ExAC) - which aggregates exome sequencing data from 60,706 unrelated individuals - and the 1000 Genomes Project which aggregates whole genome sequencing data from 2500 individuals.
However, to be able to confirm novel gene variants in the Egyptian population, data has to be compared to genomes of healthy individuals in the same population.
- Conditions
- Genetic Predisposition to Disease
- Being tested
- Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients.
- Medical subject headings
- Genetic Predisposition to Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients.Other
Egyptian patients and their family members diagnosed with different types hereditary cardiomyopathies.Healthy Egyptian individuals to provide the first of its kind resource on human genetic variation in Egyptians, which is essential for understanding the significance of detected variations in patients with inherited cardiovascular disease and their families.
| Study group | Role | What they receive |
|---|---|---|
| Control | Healthy Egyptian individuals to provide the first of its kind resource on human genetic variation in Egyptians, which is essential for understanding the significance of detected variations in patients with inherited cardiovascular disease and their families. Receives: Other: Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients. | |
| Cases | Egyptian patients and their family members diagnosed with different types hereditary cardiomyopathies. Receives: Other: Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Human genetic variation in Egyptians
To perform whole exome sequencing in 1000 healthy Egyptian individuals to provide the first of its kind resource on human genetic variation in Egyptians, which is essential for understanding the significance of detected variations in patients with inherited cardiovascular disease and their families.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Dec 2022
- Study start1 Jan 2019
- Primary completion31 Dec 2025 (estimated)
- Study completion31 Jan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Genetic Predisposition to DiseaseStudies of the same condition, open and under way.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Magdi Yacoub Heart Foundation
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Magdi H Yacoub, FRS OM, Principal investigator, Imperial College London, and Magdi Yacoub Heart Foundation
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05661305
- Sponsor's protocol ID
- AHC-EHVol
- Acronym
- AHC-EHVol
- Status last verified
- Dec 2022
- First submitted
- 14 Dec 2022
- Last updated
- 22 Dec 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005 Jul 12;112(2):207-13. doi: 10.1161/CIRCULATIONAHA.104.522581. Epub 2005 Jul 5.
PubMed 15998675Lindgren A. Stroke genetics: a review and update. J Stroke. 2014 Sep;16(3):114-23. doi: 10.5853/jos.2014.16.3.114. Epub 2014 Sep 30.
PubMed 25328870UK10K Consortium; Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N. The UK10K project identifies rare variants in health and disease. Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14.
PubMed 263677971000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. A global reference for human genetic variation. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.
PubMed 26432245Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Fritz MH, Konkel MK, Malhotra A, Stutz AM, Shi X, Casale FP, Chen J, Hormozdiari F, Dayama G, Chen K, Malig M, Chaisson MJP, Walter K, Meiers S, Kashin S, Garrison E, Auton A, Lam HYK, Mu XJ, Alkan C, Antaki D, Bae T, Cerveira E, Chines P, Chong Z, Clarke L, Dal E, Ding L, Emery S, Fan X, Gujral M, Kahveci F, Kidd JM, Kong Y, Lameijer EW, McCarthy S, Flicek P, Gibbs RA, Marth G, Mason CE, Menelaou A, Muzny DM, Nelson BJ, Noor A, Parrish NF, Pendleton M, Quitadamo A, Raeder B, Schadt EE, Romanovitch M, Schlattl A, Sebra R, Shabalin AA, Untergasser A, Walker JA, Wang M, Yu F, Zhang C, Zhang J, Zheng-Bradley X, Zhou W, Zichner T, Sebat J, Batzer MA, McCarroll SA; 1000 Genomes Project Consortium; Mills RE, Gerstein MB, Bashir A, Stegle O, Devine SE, Lee C, Eichler EE, Korbel JO. An integrated map of structural variation in 2,504 human genomes. Nature. 2015 Oct 1;526(7571):75-81. doi: 10.1038/nature15394.
PubMed 26432246
Study at a glance
From the registry record, last updated by the sponsor on 22 Dec 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Aswan Heart Centre - Egyptian Healthy Volunteers
- ClinicalTrials.gov ID
- NCT05661305
- Acronym / sponsor ID
- AHC-EHVol / AHC-EHVol
- Conditions
- Genetic Predisposition to Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Magdi Yacoub Heart FoundationUniversity, hospital or other
- Study start
- 1 Jan 2019 (actual)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 31 Jan 2030 (estimated)
- First posted
- 22 Dec 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.
To define the genotype of a healthy Egyptian cohort as a crucial step in determining the possible clinical implications of mutations detected in patients recruited in the registry.
Detailed description
A key objective of the existing Cardiomyopathies project is to develop and validate assays to identify the genetic and molecular determinants of inherited cardiomyopathies in the Egyptian population.
Current sequencing technology has made cost- and time-effective whole exome and whole genome sequencing feasible. In their attempt to make clinically-relevant conclusions, genetecists, clinicians and bioinformaticians are increasingly faced by thousands of polymorphisms and variants, the clinical significance of which requires careful and systematic analysis of a number of factors including location of the mutation within the genome, type of mutation, gene affected and the protein for which it codes, functional importance of the coded protein, segregation within the family as well as frequency of the detected variation in the same population.
The latter step requires defining what constitutes the "genetic norm" (including normal variants) within the reference population. Data for different populations is already available in a number of databases that are accessible to the scientific community to help maximize the public benefit from research. Examples include the Exome Aggregation Consortium (ExAC) - which aggregates exome sequencing data from 60,706 unrelated individuals - and the 1000 Genomes Project which aggregates whole genome sequencing data from 2500 individuals.
However, to be able to confirm novel gene variants in the Egyptian population, data has to be compared to genomes of healthy individuals in the same population.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Control | – | Other: Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients.Healthy Egyptian individuals to provide the first of its kind resource on human genetic variation in Egyptians, which is essential for understanding the significance of detected variations in patients with inherited cardiovascular disease and their families. |
| Cases | – | Other: Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients.Egyptian patients and their family members diagnosed with different types hereditary cardiomyopathies. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 1000 adult Egyptian citizen subjects that considers themselves free of cardiovascular disease.
Key inclusion criteria (1 listed)
Key exclusion criteria (11 listed)
- Withdrawal Criteria:
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 |
|---|---|---|
| Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients.Egyptian patients and their family members diagnosed with different types hereditary cardiomyopathies.Healthy Egyptian individuals to provide the first of its kind resource on human genetic variation in Egyptians, which is essential for understanding the significance of detected variations in patients with inherited cardiovascular disease and their families. | Other | Cases, Control |
Primary outcome
Human genetic variation in Egyptians
Time frame: 10 years
To perform whole exome sequencing in 1000 healthy Egyptian individuals to provide the first of its kind resource on human genetic variation in Egyptians, which is essential for understanding the significance of detected variations in patients with inherited cardiovascular disease and their families.
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 22 Dec 2022.
- Background: PubMed 15998675Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005 Jul 12;112(2):207-13. doi: 10.1161/CIRCULATIONAHA.104.522581. Epub 2005 Jul 5.
- Background: PubMed 25328870Lindgren A. Stroke genetics: a review and update. J Stroke. 2014 Sep;16(3):114-23. doi: 10.5853/jos.2014.16.3.114. Epub 2014 Sep 30.
- Background: PubMed 26367797UK10K Consortium; Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N. The UK10K project identifies rare variants in health and disease. Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14.
- Background: PubMed 264322451000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. A global reference for human genetic variation. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.
- Background: PubMed 26432246Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Fritz MH, Konkel MK, Malhotra A, Stutz AM, Shi X, Casale FP, Chen J, Hormozdiari F, Dayama G, Chen K, Malig M, Chaisson MJP, Walter K, Meiers S, Kashin S, Garrison E, Auton A, Lam HYK, Mu XJ, Alkan C, Antaki D, Bae T, Cerveira E, Chines P, Chong Z, Clarke L, Dal E, Ding L, Emery S, Fan X, Gujral M, Kahveci F, Kidd JM, Kong Y, Lameijer EW, McCarthy S, Flicek P, Gibbs RA, Marth G, Mason CE, Menelaou A, Muzny DM, Nelson BJ, Noor A, Parrish NF, Pendleton M, Quitadamo A, Raeder B, Schadt EE, Romanovitch M, Schlattl A, Sebra R, Shabalin AA, Untergasser A, Walker JA, Wang M, Yu F, Zhang C, Zhang J, Zheng-Bradley X, Zhou W, Zichner T, Sebat J, Batzer MA, McCarroll SA; 1000 Genomes Project Consortium; Mills RE, Gerstein MB, Bashir A, Stegle O, Devine SE, Lee C, Eichler EE, Korbel JO. An integrated map of structural variation in 2,504 human genomes. Nature. 2015 Oct 1;526(7571):75-81. doi: 10.1038/nature15394.
- Individual participant dataSharing planned: Undecided
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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.
Magdi H Yacoub, FRS OM principal investigator
Imperial College London, and Magdi Yacoub Heart Foundation
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 Genetic Predisposition to Disease, run by Magdi Yacoub Heart Foundation 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 1 inclusion and 11 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 22 Dec 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 Yasmine Aguib, PhD (+201092036368, yasmine.aguib@aswanheartcentre.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Human genetic variation in Egyptians (time frame: 10 years). 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 NCT05661305, which also lists 5 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 22 Dec 2022.