NCT05661305

Brief 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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,000

participants targeted

Target at P75+ for all trials

Timeline
46mo left

Started Jan 2019

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress66%
Jan 2019Jan 2030

Study Start

First participant enrolled

January 1, 2019

Completed
4 years until next milestone

First Submitted

Initial submission to the registry

December 14, 2022

Completed
8 days until next milestone

First Posted

Study publicly available on registry

December 22, 2022

Completed
3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2025

Completed
4.1 years until next milestone

Study Completion

Last participant's last visit for all outcomes

January 31, 2030

Expected
Last Updated

December 22, 2022

Status Verified

December 1, 2022

Enrollment Period

7 years

First QC Date

December 14, 2022

Last Update Submit

December 14, 2022

Conditions

Genetic Predisposition to Disease

Outcome Measures

Primary Outcomes (1)

  • 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.

    10 years

Study Arms (2)

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.

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.

Other: Whole Genome Sequencing to compare healthy volunteers genome with that of cardiomyopathies patients.

Interventions

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.

CasesControl

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

1000 adult Egyptian citizen subjects that considers themselves free of cardiovascular disease.

You may qualify if:

  • Any adult Egyptian citizen subject that considers him/herself free of cardiovascular disease.

You may not qualify if:

  • 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
  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Aswan Heart Centre - Magdi Yacoub Heart Foundation

Aswān, Egypt

RECRUITING

Related Publications (5)

  • 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.

    PMID: 15998675BACKGROUND

  • 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.

    PMID: 25328870BACKGROUND

  • 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.

    PMID: 26367797BACKGROUND

  • 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.

    PMID: 26432245BACKGROUND

  • 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.

    PMID: 26432246BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood for whole genome sequencing.

MeSH Terms

Conditions

Genetic Predisposition to Disease

Condition Hierarchy (Ancestors)

Disease SusceptibilityDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Magdi H Yacoub, FRS OM

    Imperial College London, and Magdi Yacoub Heart Foundation

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Yasmine Aguib, PhD

CONTACT

+201092036368yasmine.aguib@aswanheartcentre.com

Ahmed Elguindy, MD

CONTACT

+201001615151ahmed.elguindy@aswanheartcentre.com

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Target Duration
5 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

December 14, 2022

First Posted

December 22, 2022

Study Start

January 1, 2019

Primary Completion

December 31, 2025

Study Completion (Estimated)

January 31, 2030

Last Updated

December 22, 2022

Record last verified: 2022-12

Locations

EG(1)