Finding Genes for Rare Diseases

NCT02724995 | Withdrawn

• 1 other identifier: 15-0735-P1H
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief 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

Rare Diseases

Outcome Measures

Primary Outcomes (1)

• Number of Rare Genetic Diseases Diagnosed using Advanced Genomic Technologies

  Investigators will use genomic technologies such as SNP microarray, Array CGH, Whole exome and whole genome sequencing to identify the mutations causing different rare diseases. These results will be reported to the patients or parents after confirming in the CLIA certified laboratory.

  5 years

Eligibility Criteria

• Age: 1 Minute - 101 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Individuals with rare genetic diseases

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

Sponsors & Collaborators

• University of Kentucky: lead

Study Sites (1)

University of Kentucky Medical Center

Lexington, Kentucky, 40536, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood Saliva

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Sivakumaran T Arumugam, PhD

  University of Kentucky

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 10, 2016
• First Posted: March 31, 2016
• Study Start: February 1, 2016
• Primary Completion: December 1, 2021
• Study Completion: December 1, 2021
• Last Updated: October 26, 2017

Record last verified: 2017-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)