Clinical and Molecular Investigations Into Ciliopathies
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ClinicalTrials.gov Identifier: NCT00068224 |
Recruitment Status
:
Active, not recruiting
First Posted
: September 10, 2003
Last Update Posted
: March 29, 2018
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Condition or disease |
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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 |
Study Type : | Observational |
Actual Enrollment : | 326 participants |
Official Title: | Clinical and Molecular Investigations Into Ciliopathies |
Study Start Date : | September 8, 2003 |


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Ages Eligible for Study: | 6 Months to 80 Years (Child, Adult, Senior) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
- INCLUSION CRITERIA:
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 a ciliopathy 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). This might rarely include adults who are unable to give informed consent.
Among patients who have received a kidney or liver allograft, those with stable graft function and without severe transplantrelated
complications are eligible for enrollment.
EXCLUSION CRITERIA:
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.

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) |
Additional Information:
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | National Human Genome Research Institute (NHGRI) |
ClinicalTrials.gov Identifier: | NCT00068224 History of Changes |
Other Study ID Numbers: |
030264 03-HG-0264 |
First Posted: | September 10, 2003 Key Record Dates |
Last Update Posted: | March 29, 2018 |
Last Verified: | November 13, 2017 |
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Caroli's Syndrome Congenital Hepatic Fibrosis Ductal Plate Malformation Ciliopathy Polycystic Kidney Polycystic Liver Nephronophthisis Molar Tooth Sign Dandy-Walker Malformation |
Retinopathy Situs Inversus Heterotaxia Cerebellar Vermis Hypoplasia Autosomal Recessive Polycystic Kidney Disease ARPKD Kidney Liver |
Additional relevant MeSH terms:
Syndrome Fibrosis Kidney Diseases Polycystic Kidney Diseases Apraxias Bardet-Biedl Syndrome Laurence-Moon Syndrome Alstrom Syndrome Cogan Syndrome Polycystic Kidney, Autosomal Recessive Liver Cirrhosis Genetic Diseases, Inborn Ciliopathies Caroli Disease Oculocerebrorenal Syndrome |
Coma Orofaciodigital Syndromes Disease Pathologic Processes Urologic Diseases Kidney Diseases, Cystic Abnormalities, Multiple Congenital Abnormalities Psychomotor Disorders Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Signs and Symptoms Hypothalamic Diseases Brain Diseases |