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Clinical and Molecular Investigations Into Ciliopathies

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier:
First received: September 10, 2003
Last updated: May 6, 2017
Last verified: May 5, 2017
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....

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
Bardet-Biedl Syndrome
Alstrom Syndrome
Oral-Facial-Digital Syndrome

Study Type: Observational
Official Title: Clinical and Molecular Investigations Into Ciliopathies

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Enrollment: 290
Study Start Date: September 4, 2003
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.

Ages Eligible for Study:   6 Months to 80 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.


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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Please refer to this study by its identifier: NCT00068224

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Meral Gunay-Aygun, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT00068224     History of Changes
Other Study ID Numbers: 030264
Study First Received: September 10, 2003
Last Updated: May 6, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Cerebellar Vermis Hypoplasia
Caroli's Syndrome
Congenital Hepatic Fibrosis
Ductal Plate Malformation
Polycystic Kidney
Polycystic Liver
Molar Tooth Sign
Dandy-Walker Malformation
Situs Inversus
Autosomal Recessive Polycystic Kidney Disease

Additional relevant MeSH terms:
Kidney Diseases
Polycystic Kidney Diseases
Bardet-Biedl Syndrome
Liver Cirrhosis
Genetic Diseases, Inborn
Alstrom Syndrome
Polycystic Kidney, Autosomal Recessive
Cogan Syndrome
Orofaciodigital Syndromes
Oculocerebrorenal Syndrome
Caroli Disease
Pathologic Processes
Urologic Diseases
Kidney Diseases, Cystic
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Psychomotor Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Signs and Symptoms
Liver Diseases processed this record on May 25, 2017