Clinical and Molecular Investigations Into Ciliopathies
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|ClinicalTrials.gov Identifier: NCT00068224|
Recruitment Status : Completed
First Posted : September 10, 2003
Last Update Posted : November 21, 2018
|Condition or disease|
|Autosomal Recessive Polycystic Kidney Disease Congenital Hepatic Fibrosis Caroli's Disease Polycystic Kidney Disease Joubert Syndrome Cerebro-Oculo-Renal Syndromes COACH Syndrome Senior-Loken Syndrome Dekaban-Arima Syndrome Cogan Oculomotor Apraxia Nephronophthisis Bardet-Biedl Syndrome Alstrom Syndrome Oral-Facial-Digital Syndrome Ciliopathy|
|Study Type :||Observational|
|Actual Enrollment :||326 participants|
|Official Title:||Clinical and Molecular Investigations Into Ciliopathies|
|Study Start Date :||September 8, 2003|
Children and adults who carry a clinical diagnosis of a known ciliopathy such as ARPKD,CHF, JSRD, BBS, OFD1, AS and those patients who have typical features suggestive of aciliopathy but not fulfilling the diagnostic criteria for any of the known disorders (unknown types of PKD and/or CHF, retinal degeneration, variants of molar tooth sign such as Dandy-Walker variants).
- Ciliopathy [ Time Frame: ongoing ]The general objective of this study is to assess the clinical characteristics of ciliopathies.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00068224
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Meral Gunay-Aygun, M.D.||National Human Genome Research Institute (NHGRI)|