Clinical and Molecular Investigations Into Ciliopathies
NCT00068224 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 374
Last updated 2021-02-21
Summary
This study will evaluate patients ciliopathies. People with ciliopathies develop fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the eyes, abnormal bone growth, abnormal sidedness of internal organs and polydactyly. The goal of the study is to better understand the medical complications of these disorders and identify characteristics that can help in the design of new treatments.
Conditions
- Ciliopathy
Sponsors & Collaborators
-
National Human Genome Research Institute (NHGRI)
lead NIH
Principal Investigators
-
Meral Gunay-Aygun, M.D. · National Human Genome Research Institute (NHGRI)
Eligibility
- Min Age
- 5 Months
- Max Age
- 80 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2003-03-16
- Primary Completion
- 2019-10-16
- Completion
- 2021-02-18
Countries
- United States
Study Locations
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