Finding Genes for Rare Diseases

Withdrawn before enrolling

Conditions studied: Rare Diseases

In brief

This study will help the investigator understand the pathogenesis of different rare genetic conditions and to establish database of rare genetic databases. This would ultimately help to provide more accurate diagnosis through advanced genomic diagnostic testing and databases established from this study. This knowledge would in turn help in the clinical management of other affected family members and other individuals affected with similar conditions. Understanding of pathogenesis of the disease would also enable the investigator to develop targeted therapies for rare genetic diseases, and also to collaborate on the targeted therapy-related clinical trials. The investigator plans to store the results of this study in databases. These results will be shared with other researchers or doctors, who research, diagnose or treat the individuals with similar diseases. The investigator will only share the data that is collected and not the biological samples.

Key facts

Study ID

NCT02724995

Run by

University of Kentucky

People needed

0

Starts

2016-02-01

Expected to finish

2021-12-01

Last updated by the study team

2017-10-26

Who can join

Age: any, up to 101. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Diagnosis of a rare genetic disease
• Are between the ages of 0 and 101
• Are willing to have genetic testing performed on blood or saliva samples
• Can understand and speak English

You may not qualify if…

• Diagnosis of cancer
• Unwilling to have genetic testing performed on blood or saliva samples
• Unable to read or speak English
• Prisoners

Where it is running

• University of Kentucky Medical Center — Lexington, Kentucky, United States

Full record on ClinicalTrials.gov

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