NIH Clinical Research Update

National Institutes of Health (NIH) Study on Autosomal Recessive Polycystic Kidney Disease / Congenital Hepatic Fibrosis (ARPKD/CHF)

The National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) has an ongoing intramural research protocol to investigate ARPKD/CHF and other related ciliopathies (www.clinicaltrials.gov, NCT00068224). The objective is to produce comprehensive longitudinal data on the kidney and liver disease in these disorders to provide the groundwork for more focused studies and novel therapeutic interventions. The protocol enrolls children and adults with a suspected diagnosis of ARPKD/CHF, ADPKD/CHF, apparently isolated CHF/Caroli’s disease, and syndromic forms of CHF/Caroli’s disease or PKD including Joubert (JS), COACH, Senior-Loken, Dekaban-Arima, Cogan oculomotor apraxia, nephronophthisis, Bardet-Biedl (BBS), Oral-facial-digital syndromes. Patients who have received a kidney or liver transplant and have stable graft function without severe complications are eligible. Infants under 6 months of age and medically fragile patients are excluded.

This study requires patients to be evaluated at the NIH Clinical Center for 4-5 days, with follow up visits every 1-2 years. No change in the patient’s therapy is made during the protocol admissions, and routine medical care continues to be provided by the referring nephrologist. Laboratory tests include 24-hour urine collections for determination of renal tubular and glomerular function and blood tests for comprehensive kidney and liver tests, hormones and growth factors. Imaging studies include high-resolution ultrasound, Doppler measurements of blood flow, MRI of the kidneys and the liver, MR cholangiography and Echocardiogram. Twenty-four hour ambulatory blood pressure monitoring is also performed. The families and referring physicians are provided with copies of the test results at the end of each visit. Any medical findings that requires a change in the patient’s treatment regimen is discussed with the referring physician. To date, we have evaluated 112 patients (67 ARPKD/CHF, 7 ADPKD/CHF, 10 BBS, 8 JS, and 12 PKD/CHF/Caroli’s, 3 CHF, and 5 PDK of unknown type) with 185 admissions. We would like to expand this experience. There are no medical expenses for the patients, and travel and accommodation are provided. We invite you to participate in this comprehensive clinical research study. For more information or referrals please contact Dr. Meral Gunay-Aygun at 301 594 4181 or mgaygun@mail.nih.gov