NIH Clinical Research Studies

Protocol Number: 03-HG-0264

Active Accrual, Protocols Recruiting New Patients

Title:
Clinical Investigations into Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis
Number:
03-HG-0264
Summary:
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.

Sponsoring Institute:
National Human Genome Research Institute (NHGRI)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility 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).

Special Instructions:
NHGRI has partnered with the ARPKD/CHF Alliance that can be reached at (717) 529-5555 or www.arpkd.org.
Keywords:
Bile Duct Dilatation
Portal Hypertension
Ductal Plate
Cysts
Caroli's Syndrome
Autosomal Recessive Polycystic Kidney Disease
Congenital Hepatic Fibrosis
Congenital Dilatation of Bile Ducts
Ductal Plate Malformation
Recruitment Keywords:
Autosomal Recessive Polycystic Kidney Disease
ARPKD
Congenital Hepatic Fibrosis
Kidney
Liver
Conditions:
Polycystic Kidney, Autosomal Recessive
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:
Kaplan BS, Fay J, Shah V, Dillon MJ, Barratt TM. Autosomal recessive polycystic kidney disease. Pediatr Nephrol. 1989 Jan;3(1):43-9.

Capisonda R, Phan V, Traubuci J, Daneman A, Balfe JW, Guay-Woodford LM. Autosomal recessive polycystic kidney disease: outcomes from a single-center experience.

Pediatr Nephrol. 2003 Feb;18(2):119-26. Epub 2003 Jan 21.

Roy S, Dillon MJ, Trompeter RS, Barratt TM. Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors. Pediatr Nephrol. 1997 Jun;11(3):302-6. Erratum in: Pediatr Nephrol 1997 Oct;11(5):664.

Active Accrual, Protocols Recruiting New Patients

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