Clinical and Molecular Investigations Into Ciliopathies

February 18, 2021 updated by: National Human Genome Research Institute (NHGRI)
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.

Study Overview

Status

Completed

Conditions

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

Observational

Enrollment (Actual)

374

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 months to 80 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

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).

Description

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Ciliopathy
Children and adults who carry a clinical diagnosis of a known ciliopathy and those patients who have typical features suggestive of a cliopathy but not fulfilling the diagnostic criteria.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Ciliopathy
Time Frame: ongoing
The general objective of this study is to assess the clinical characteristics of ciliopathies.
ongoing

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Human Genome Research Institute (NHGRI)

Investigators

  • Principal Investigator: Meral Gunay-Aygun, M.D., National Human Genome Research Institute (NHGRI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 16, 2003

Primary Completion (Actual)

October 16, 2019

Study Completion (Actual)

February 18, 2021

Study Registration Dates

First Submitted

September 10, 2003

First Submitted That Met QC Criteria

September 9, 2003

First Posted (Estimate)

September 10, 2003

Study Record Updates

Last Update Posted (Actual)

February 21, 2021

Last Update Submitted That Met QC Criteria

February 18, 2021

Last Verified

February 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 030264
  • 03-HG-0264

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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