Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1000 participants
OBSERVATIONAL
2019-01-01
2030-01-31
Brief Summary
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Detailed Description
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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
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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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.
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.
Cases
Egyptian patients and their family members diagnosed with different types hereditary cardiomyopathies.
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.
Interventions
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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.
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
* Known cardiovascular disease
* Known collagen vascular disease
* Individuals with communication difficulties, or who do not wish to participate
* Pregnancy
* Contraindication to MRI
* 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.
18 Years
ALL
Yes
Sponsors
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Magdi Yacoub Heart Foundation
OTHER
Responsible Party
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Principal Investigators
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Magdi H Yacoub, FRS OM
Role: PRINCIPAL_INVESTIGATOR
Imperial College London, and Magdi Yacoub Heart Foundation
Locations
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Aswan Heart Centre - Magdi Yacoub Heart Foundation
Aswān, , Egypt
Countries
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Central Contacts
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Facility Contacts
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Ahmed M ElGuindy, MD, MRCP
Role: primary
Shehab M Anwer, MD
Role: backup
References
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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.
Lindgren 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.
UK10K 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.
1000 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.
Sudmant 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.
Other Identifiers
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AHC-EHVol
Identifier Type: -
Identifier Source: org_study_id