NCT02762318|Terminated
Study Stopped
Lack of funding
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Lack of funding
Sponsor study identifier
observational
5
1 country
1
Study Start
December 2015
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
July 2020
Actual (reported)Study Completion
July 2020
Actual (reported)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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
July 2020
Actual (reported)Click on a node to explore related trials.
Some registry-reported names shown below are not yet linked in this graph.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
December 2015
Date type not reportedThis date has not been verified as actual or estimated.
December 16, 2015
Actual (reported)May 4, 2016
Actual (reported)July 2020
Actual (reported)July 2020
Actual (reported)Clinical assessement of a study group of patients with various forms of skeletal dysplasia, followed by identification of novel pathogenic variants using whole exome/genome sequencing.
Patients will be selected for the study and will undergo: Phenotyping by a combination of clinical history taking and examination, determination of bone mass, laboratory studies, Full exome sequencing Lastly, the variants present in each exome will be determined, and these variants will be classified according to their likelihood of being pathogenic.
2-3 years
Biochemical and cellular characterization of the putative causative genes.
1-2 year
After consenting, all subjects have to undergo the following procedures: Up to 25 ml of blood will be withdrawn.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.
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
All our subjects will be recruited from the pool of patients seen by the Pediatric Orthopedic Consultants at the Bone and Joint Institute. Subjects will be coming to the clinic for their standard care. They will be identified during that visit as candidates for the study.
Hamad Medical Corporation
Doha, Qatar
Blood, Cheek swab (optional) \[If for any reason, the blood sample cannot be obtained, a swab will be applied to the inside of the cheek to obtain saliva\]
Ronald Crystal, MD
Weill Medical College of Cornell University
5 participants (actual enrollment reported by the registry).
First Submitted
December 16, 2015
First Posted
May 4, 2016
Study Start
December 2015
Date type not reportedThis date has not been verified as actual or estimated.
Decoding the Genetic Landscape of Skeletal Diseases
Contact the study team to confirm eligibility.
Primary Completion
July 2020
Actual (reported)Study Completion
July 2020
Actual (reported)Last Updated
April 19, 2023
Record last verified: 2023-04
To facilitate future genetic diagnostics related to skeletal dysplasias, the variants identified and their classifications will be shared in Gulf-based health forums and the international online databases of clinically significant genetic variation in humans (ie Clinvar, dbSNP). The data gathered regarding the spectrum of disorders identified will be similarly disseminated. HMC-affiliated investigators will use the data generated for poster and oral presentations at international meetings. Similarly, the genetic data will be likewise shared at the relevant local and international meetings. Most importantly, we are committed to publishing the results in a timely fashion in the biomedical literature, aiming for publications in high quality, high impact, peer reviewed journals. All original data and reagents generated will be made available to other investigators according to the conventions of biomedical science.
Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.
Source: ClinicalTrials.gov.
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