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Clinical and Molecular Investigations Into Ciliopathies
This study is currently recruiting participants.
Verified May 5, 2017 by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
Sponsor:
National Human Genome Research Institute (NHGRI)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier:
NCT00068224
First received: September 10, 2003
Last updated: July 1, 2017
Last verified: May 5, 2017
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| First Received Date ICMJE | September 10, 2003 | ||||
| Last Updated Date | July 1, 2017 | ||||
| Start Date ICMJE | September 4, 2003 | ||||
| Primary Completion Date | Not Provided | ||||
| Current Primary Outcome Measures ICMJE | Not Provided | ||||
| Original Primary Outcome Measures ICMJE | Not Provided | ||||
| Change History | Complete list of historical versions of study NCT00068224 on ClinicalTrials.gov Archive Site | ||||
| Current Secondary Outcome Measures ICMJE | Not Provided | ||||
| Original Secondary Outcome Measures ICMJE | Not Provided | ||||
| Current Other Outcome Measures ICMJE | Not Provided | ||||
| Original Other Outcome Measures ICMJE | Not Provided | ||||
| Descriptive Information | |||||
| Brief Title ICMJE | Clinical and Molecular Investigations Into Ciliopathies | ||||
| Official Title ICMJE | Clinical and Molecular Investigations Into Ciliopathies | ||||
| Brief 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.... | ||||
| Detailed Description | Human diseases caused by defects of the primary cilium (ciliopathies) are a group of distinct disorders with overlapping features. Clinical features of ciliopathies include 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. Human ciliopathies characterized by variable combinations of these features include autosomal recessive (ARPKD) and dominant (ADPKD) polycystic kidney diseases, nephronophthisis (NPHP), Joubert syndrome and related disorders (JSRD), Bardet-Biedl (BBS), Meckel-Gruber (MKS), Oral-Facial-Digital-type 1 (OFD1), and Alstrom syndromes (AS) and skeletal disorders such as Jeune syndrome (JS) and cleidocranial dysplasia. ARPKD, the most common pediatric ciliopathy, is characterized by cystic degeneration of the kidneys and congenital hepatic fibrosis of the liver. JSRD are a heterogenous group of syndromes characterized by a distinctive cerebellar and brainstem malformation (molar tooth sign), intellectual disability, abnormal eye movements, and abnormal respiratory pattern in infancy. Other common features seen in subsets of JSRD patients include, fibrocystic renal disease, congenital hepatic fibrosis, retinal degeneration, retinal colobomas, occipital encephalocele, and polydactyly. AS and BBS are ciliopathies characterized by obesity and retinal degeneration and hepatorenal disease in most cases. BBS patients also exhibit postaxial polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism and female genitourinary malformations. Additional features in AS include metabolic syndrome associated with insulin resistance and hyperlipidemia, cardiomyopathy and sensorineural deafness. OFD-I is characterized by polycystic kidney disease and oral, digital and brain anomalies including cerebellar hypoplasia with or without Dandy-Walker malformation. JS is a skeletal ciliopathy characterized by small thorax, short-limbed short stature, fibrocystic renal disease and retinal degeneration. The frequency and characteristics and natural history of specific organ/system disease in ciliopathies are either unknown or poorly defined, mostly because of the limited data available from retrospective reports of small numbers of patients. | ||||
| Study Type ICMJE | Observational | ||||
| Study Design ICMJE | Not Provided | ||||
| Target Follow-Up Duration | Not Provided | ||||
| Biospecimen | Not Provided | ||||
| Sampling Method | Not Provided | ||||
| Study Population | Not Provided | ||||
| Condition ICMJE |
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| Intervention ICMJE | Not Provided | ||||
| Study Groups/Cohorts | Not Provided | ||||
| Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||
| Recruitment Status ICMJE | Recruiting | ||||
| Estimated Enrollment ICMJE | 500 | ||||
| Completion Date | Not Provided | ||||
| Primary Completion Date | Not Provided | ||||
| Eligibility Criteria ICMJE |
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. |
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| Ages | 6 Months to 80 Years (Child, Adult, Senior) | ||||
| Accepts Healthy Volunteers | No | ||||
| Contacts ICMJE |
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| Listed Location Countries ICMJE | United States | ||||
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| Administrative Information | |||||
| NCT Number ICMJE | NCT00068224 | ||||
| Other Study ID Numbers ICMJE | 030264 03-HG-0264 |
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| Has Data Monitoring Committee | Not Provided | ||||
| U.S. FDA-regulated Product | Not Provided | ||||
| IPD Sharing Statement | Not Provided | ||||
| Responsible Party | National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) | ||||
| Study Sponsor ICMJE | National Human Genome Research Institute (NHGRI) | ||||
| Collaborators ICMJE | Not Provided | ||||
| Investigators ICMJE |
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| PRS Account | National Institutes of Health Clinical Center (CC) | ||||
| Verification Date | May 5, 2017 | ||||
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ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |
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