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Finding Genes for Rare Diseases

NCT02724995 · Status: WITHDRAWN · Type: OBSERVATIONAL

Last updated 2017-10-26

No results posted yet for this study

Summary

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.

Conditions

Sponsors & Collaborators

  • University of Kentucky

    lead OTHER

Principal Investigators

  • Sivakumaran T Arumugam, PhD · University of Kentucky

Eligibility

Min Age
1 Minute
Max Age
101 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-02-29
Primary Completion
2021-12-31
Completion
2021-12-31

Countries

  • United States

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 NCT02724995 on ClinicalTrials.gov