Clinical and Molecular Investigations Into Ciliopathies
Completed
Conditions studied: Ciliopathy
In brief
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.
Key facts
- Study ID
- NCT00068224
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 374
- Starts
- 2003-03-16
- Expected to finish
- 2021-02-18
- Last updated by the study team
- 2021-02-21
Who can join
Age: 0 and older, up to 80. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Infants under 6 months of age
- Medically fragile patients who require frequent hospitalizations due to complications of end-stage renal disease (uncontrolled hypertension, severe electrolyte imbalances), hepatic disease (current variceal bleeding, overt encephalopathy, intractable recurrent cholangitis), severe cardiomyopathy as seen in some AS patients, or severe respiratory abnormalities as seen in some JSRD patients with severe brain stem involvement.
Where it is running
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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