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Identification and Characterization of Bone-related Genetic Variants in Families

NCT02762318 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 5

Last updated 2023-04-19

No results posted yet for this study

Summary

Identify novel genetic variants causing skeletal dysplasia in Qatari populations and to additionally develop an understanding of how those variants influence skeletal biology at a molecular and cellular level.

Conditions

Interventions

OTHER

Samples With DNA

After consenting, all subjects have to undergo the following procedures: Up to 25 ml of blood will be withdrawn. If for any reason, the blood sample cannot be obtained, a swab will be applied to the inside of the cheek to obtain saliva. A questionnaire will be used to collect information about individual A routine physical exam will be performed. The subject's medical record will be reviewed To well document some of the specific phenotypes and conditions, physicians might take photographs of the affected body area. For secondary subjects (relatives or family members), normal examination and routine lab tests/ imagining will be done if needed as per the related standard care.

Sponsors & Collaborators

  • Hamad Medical Corporation

    collaborator INDUSTRY

  • Weill Medical College of Cornell University

    lead OTHER

Principal Investigators

  • Ronald Crystal, MD · Weill Medical College of Cornell University

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-12-31
Primary Completion
2020-07-31
Completion
2020-07-31

Countries

  • Qatar

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02762318 on ClinicalTrials.gov