Protocol Number: 03-HG-0264

Title:

Clinical Investigations into the Kidney and Liver Disease in Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis and other Ciliopathies

Number:

03-HG-0264

Summary:

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.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

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).

Special Instructions:

NHGRI has partnered with the ARPKD/CHF Alliance that can be reached at (717) 529-5555 or www.arpkd.org.

Keywords:

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

Recruitment Keyword(s):

Autosomal Recessive Polycystic Kidney Disease

ARPKD

Congenital Hepatic Fibrosis

Kidney

Liver

Condition(s):

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

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Human Genome Research Institute

Contact(s):

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

Citation(s):

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.

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