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Sponsored by: |
National Human Genome Research Institute (NHGRI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00068224 |
This study will evaluate patients with autosomal recessive polycystic kidney disease (ARPKD) and congenital hepatic fibrosis (CHF) and other related disorders (ciliopathies). People with ARPKD develop kidney cysts and eventually kidney failure, symptoms may include hypertension (high blood pressure), poor growth, and urinary infections. CHF is a specific type of liver disease associated with ARPKD. It involves fibrosis, or scarring, of the liver, which can lead to life-threatening complications, including internal bleeding of enlarged blood vessels called varices in the esophagus (food pipe). 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.
Condition |
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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 |
Official Title: | Clinical Investigations Into the Kidney and Liver Disease in Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis and Other Ciliopathies |
Estimated Enrollment: | 300 |
Study Start Date: | September 2003 |
Human disorders caused by defects of the cilia and/or centrosome (ciliopathies) are a group of distinct syndromes with overlapping features. Human ciliopathies include polycystic kidney diseases (PKD), nephronophthisis (PKD), Joubert (JS) and related cerebello-oculo-renal syndromes (CORS), Bardet-Biedl (BBS), Meckel-Gruber (MGS), Oral-Facial-Digital (OFD), and Alstrom syndromes(AS). Autosomal recessive polycystic kidney disease (ARPKD), the most common pediatric ciliopathy, is characterized by cystic degeneration of the kidneys and congenital hepatic fibrosis (CHF) of the liver. JS is characterized by a distinctive cerebellar and brainstem malformation (molar tooth sign), developmental delays, episodic hyperpnea/apnea and atypical eye movements. Other features identified in JS/CORS patients include retinal dystrophy, renal disease, CHF, ocular colobomas, occipital encephalocele, and polydactyly. BBS is characterized by retinal dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal dysfunction. AS is characterized by retinal dystrophy, obesity, progressive sensorineural hearing impairment, dilated cardiomyopathy, the insulin resistance .syndrome, developmental delay and renal and hepatic disease. OFD-I is characterized, by polycystic kidney disease, facial dysmorphism, and oral, digital and brain anomalies including cerebellar agenesis with or without Dandy-Walker malformation. Although at least a subset of the patients with JS/CORS, BBS, OFD, and AS are known to have significant kidney and liver involvement, the characteristics of kidney and liver disease in these syndromes are poorly defined mostly because of the limited data available only from retrospective reports. In this protocol, we will clinically evaluate up to 300 children and adults with ARPKD/CHF and other rare ciliopathies with special emphasis on delineating the kidney and liver involvement. We will perform mutation analysis of the related genes when needed. Routine admissions will last 4-5 days and will occur approximately every 12 months. This protocol will provide longitudinal information regarding progression of renal and hepatic disease in a large cohort of patients, and will elucidate genotype-phenotype correlations. The protocol will also allow the investigators to acquire sufficient expertise in ARPKD to design therapeutic interventions in the future.
Ages Eligible for Study: | 6 Months to 80 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
This protocol will enroll children and adults who carry a clinical diagnosis of ARPKD, CHF, JS/CORS, BBS, OFD or AS and who has either PKD/NP spectrum of changes in the kidneys or CHF/Caroli's syndrome of the liver. 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 transplant-related complications are eligible for enrollment. Patients and their parents/legal guardians must be willing to come to the NIH Clinical Center for admission annually.
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) or hepatic disease (current variceal bleeding, overt encephalopathy, intractable recurrent cholangitis).
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 |
Study ID Numbers: | 030264, 03-HG-0264 |
Study First Received: | September 10, 2003 |
Last Updated: | August 19, 2008 |
ClinicalTrials.gov Identifier: | NCT00068224 |
Health Authority: | United States: Federal Government |
Caroli's Syndrome Congenital Hepatic Fibrosis Ductal Plate Malformation Ciliopathy Polycystic Kidney Polycystic Liver Nephronophthisis Cerebral Vermis Hypoplasia Molar Tooth Sign |
Dandy-Walker Malformation Retinopathy Situs Inversus Heterotaxia Autosomal Recessive Polycystic Kidney Disease ARPKD Congenital Hepatic Fibrosis Kidney Liver |
Chromosomal abnormalities Caroli disease Liver Diseases Arima syndrome Liver Cirrhosis Apraxia Brain Diseases Musculoskeletal Abnormalities Metabolism, Inborn Errors Polycystic kidney disease, infantile type Polycystic kidney disease, autosomal recessive Brain Diseases, Metabolic, Inborn Apraxias Kidney Diseases Caroli Disease |
Oculocerebrorenal syndrome Hypothalamic Diseases Metabolic Diseases Oculocerebrorenal Syndrome Kidney Diseases, Cystic Consciousness Disorders Polycystic Kidney Diseases Lowe oculocerebrorenal syndrome Situs Inversus Polycystic Kidney, Autosomal Recessive Congenital hepatic fibrosis Bile Duct Diseases Metabolic disorder Brain Diseases, Metabolic Fibrosis |
Disease Pathologic Processes Amino Acid Transport Disorders, Inborn Syndrome Nervous System Diseases |
Sex Chromosome Disorders Renal Tubular Transport, Inborn Errors Dysostoses Choledochal Cyst |