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Home > "E" Clinical Trials Conditions > Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis  Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis
Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis
For Condition: Polycystic Kidney, Autosomal Recessive
Status: Recruiting
Sponsor(s): National Human Genome Research Institute (NHGRI) ,
Synopsis: This study will evaluate patients with autosomal recessive polycystic kidney disease (ARPKD) and congenital hepatic fibrosis (CHF). 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 ARPKD and CHF and identify characteristics that can help in the design of new treatments. Patients 6 months of age and older with ARPKD may be eligible for this 5- to 10-year study, excluding those who require frequent hospitalizations due to complications of end-stage renal disease or liver disease. Participants will undergo some or all of the following tests and procedures every 12 months during a 4- to 5-day hospital admission at the NIH Clinical Center: - Medical history and physical examination; 24-hour urine collection and blood tests to evaluate kidney and liver function; blood tests for basic research, including genetic studies related to ARPKD - Ultrasound of the abdomen to see changes in the kidneys, liver, spleen, and portal vein (vein leading to the liver); ultrasound of the heart in patients with hypertension. Ultrasound uses a probe held on the skin to send sound waves to organs. A computer converts the sound waves into images. - Magnetic resonance imaging (MRI) of the liver, bile ducts and kidneys. MRI uses a magnetic field and radio waves to scan organs while the patient lies still in a tunnel-like machine. - Echocardiogram and 24 hour blood pressure monitoring in patients with hypertension. - Cognitive function testing in patients with portal hypertension. Brain function is assessed through paper and pencil exercises that involve answering questions or drawing pictures. - X-rays and other tests, such as placement of intravenous lines, as needed for medical management - Endoscopy, if needed, to help prevent bleeding of esophageal varices. For this procedure, the patient is given medication for relaxation and sleep. Then, a tube with a light on the tip is advanced through the mouth down the food pipe and stomach to examine the organs and stop any bleeding. Results of tests performed, including information on the genetic cause of the ARPKD, will be provided the patient (or parent) if requested. NHGRI has partnered with the ARPKD/CHF Alliance that can be reached at (717) 529-5555 or www.arpkd.org.
Details: Autosomal recessive polycystic kidney disease (ARPKD) is characterized by cystic degeneration of the kidneys and progressive fibrosis of the liver. Approximately 30-50% of patients who are diagnosed perinatally die during the first months of life. Other presentations range from primarily kidney involvement in the newborn period to complications of congenital hepatic fibrosis (CHF) in older children and adults. Most patients with ARPKD present during the first 5 years of life with enlarged kidneys. Renal function deteriorates at variable rates, leading to end stage renal failure in most patients. CHF of variable degrees occurs invariably in ARPKD, and often results in portal hypertension and variceal bleeding between 5 and 13 years of age. Renal disease, bleeding from esophageal varices, and recurrent cholangitis are the major sources of mortality and morbidity. ARPKD is caused by mutations in the PKHD1 gene, which encodes a protein called fibrocystin. In this protocol, we will clinically evaluate up to 50 children and adults with ARPKD and perform mutation analysis on the PKHD1 gene. Routine admissions will last 4-5 days and will occur approximately every 12 months. This protocol will provide longitudinal information regarding progression of disease in a large cohort of patients, will elucidate genotype-phenotype correlations, and will allow the investigators to acquire sufficient expertise in ARPKD to design therapeutic interventions in the future.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: This protocol will include children and adults with a clinical diagnosis of ARPKD. The diagnosis will require: 1) Characteristic kidney involvement based upon clinical or biopsy findings; and 2) Either liver involvement based upon clinical or biopsy findings, or a normal parental renal ultrasound and family history compatible with autosomal recessive inheritance. 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. Finally, 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).
Total Enrollment: 50
Location and Contact Information:
National Human Genome Research Institute (NHGRI) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 030264; 03-HG-0264
Study Start Date: September 4, 2003
Record last reviewed: July 30, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00068224
Other Polycystic Kidney, Autosomal Recessive Studies:
1. Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis
Related Studies:
Other Polycystic Kidney, Autosomal Recessive Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis
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