Clinical and Molecular Investigations Into Ciliopathies

This study is currently recruiting participants. (see Contacts and Locations)

Verified November 2015 by National Institutes of Health Clinical Center (CC)

Sponsor:

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: August 31, 2016

Last verified: November 2015

History of Changes

Tracking Information

First Received Date ^ICMJE

September 10, 2003

Last Updated Date

August 31, 2016

Start Date ^ICMJE

September 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

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

Intervention ^ICMJE

Not Provided

Study Group/Cohort (s)

Not Provided

Publications *

* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Recruiting

Estimated Enrollment ^ICMJE

500

Completion Date

Not Provided

Primary Completion Date

Not Provided

Eligibility Criteria ^ICMJE

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.

Gender

Both

Ages

6 Months to 80 Years (Child, Adult, Senior)

Accepts Healthy Volunteers

Contacts ^ICMJE

Contact: Meral Gunay-Aygun, M.D.

(443) 286-1703

mg466r@nih.gov

Listed Location Countries ^ICMJE

United States

Removed Location Countries

Administrative Information

NCT Number ^ICMJE

NCT00068224

Other Study ID Numbers ^ICMJE

030264, 03-HG-0264

Has Data Monitoring Committee

Not Provided

Plan to Share Data

Not Provided

IPD Description

Not Provided

Responsible Party

National Human Genome Research Institute (NHGRI)

Study Sponsor ^ICMJE

National Human Genome Research Institute (NHGRI)

Collaborators ^ICMJE

Not Provided

Investigators ^ICMJE

Principal Investigator:

Meral Gunay-Aygun, M.D.

National Human Genome Research Institute (NHGRI)

Information Provided By

National Institutes of Health Clinical Center (CC)

Verification Date

November 2015

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP

To Top