Important Research Study for ARPKD/CHF

Dear ARPKD/CHF families and professionals,

It is an honor to announce an especially new and extremely exciting research development for ARPDK and CHF.   

The National Human Genome Research Institute (NHGRI), with support from the Office of Rare Diseases (ORD), has developed a comprehensive research study entitled:  "Clinical Investigations into Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis”.  This in-depth protocol, which will collect critical data from real people, will occur at the National Institutes of Health Clinical Center, located in Bethesda, Maryland, near Washington DC.  Results will help define the characteristics, severity and progression of disease manifestations. With a workforce and full-time physician devoted solely to gathering statistical information on our disorder, we gain a broader perspective on the range of issues, complications, organ involvement, and the effectiveness of current treatments.  The primary reason for this study is to acquire enough information to design therapeutic interventions.

The ARPKD/CHF Alliance was instrumental in generating interest in this study, expected to provide research worth millions of dollars.  I had the opportunity to meet with the primary investigators, i.e., Dr. Meral Gunay-Aygun (Medical Genetics Branch, NHGRI, and ORD, Office of the Director of NIH), Dr. William Gahl, M.D., Ph.D. (Clinical Director, NHGRI), and Dr. Robert Kleta, M.D., Ph.D. (Staff Clinician, Medical Genetics Branch, NHGRI), and review this impressive project, months in the making.  It takes into account all the aspects of ARPKD and CHF that concern and challenge caregivers.  The goal is to collect information from all persons affected by ARPKD/CHF.  Eligibility is for those from 6 months to 80 years of age, even those with kidney and/or liver transplantation.  

There is some very good science research for our condition (cellular, molecular, mouse model, ARPKD database – all very important), yet clinical research, particularly into CHF, is minimal. Nothing like this study has ever existed, in either breadth or depth. It is the most comprehensive project for ARPKD/CHF to date.  This sort of “prospective” medical clinical research is rare even for common disease, much more difficult to create and fund than “basic science research”, and essentially the best possible scientific research known for tackling crucial questions caregivers or patients care about most deeply.

What can you expect if you participate?  Admission to the NIH Clinical Center is for 4-5 days; this is not an acute care medical hospital, yet resembles one in appearance.  This protocol is non-invasive except for two blood draws, with the amount taken dependent on body weight.  A history and physical exam will be obtained, along with two 24-hour urine collections, a chest x-ray, frequent blood pressure readings (every 4 hours for 2 days), an abdominal ultrasound, echocardiogram, an MRI of the kidneys and liver, and photographs of the face and body with underwear on.  There will be consultations with nephrology, gastroenterology, and ophthalmology. 

There is no fee to participate in this study, nor are participants paid. There is no direct benefit for those enrolled, but patients will receive a complete diagnostic evaluation.  In addition, if warranted, counseling concerning medical aspects and the basic genetics of ARPKD will be provided. Two annual, 3-day follow-up evaluations will help determine the rate of progression of symptoms and complications. 

The ARPKD/CHF Alliance understands both the importance of this study, and the financial sacrifices made in order to participate in research.  Because of this, we have recently established a fund to assist families with expenses such as parking, meals, and car travel. However, this fund is limited and depending on your tastes and circumstances may not cover all expenses. Nevertheless, it should make participation possible for families who otherwise could not be involved because of costs. In addition, for truly needy families, the NIH can assist with travel at this time.  Also available is “Angel Flight” (airfare for research participates, with some restrictions) and a Children’s Inn, for families to stay, located next to the NIH Clinical Center.

We now have the opportunity to create knowledge and understanding and perhaps even therapies that are specific to ARPKD. Careful data collection and clinical understanding of our disease is fundamental to our success in finding treatments.  Your participation can expedite the research process, potentially adding to both quality of life and life expectancy for all affected. Working together with the clinical researchers at the NIH will enable and encourage them to move forward in providing what we need as caregivers and patients.

Your help is of paramount importance to the success of this critical project.  If you have interest or any questions, please feel free to contact the ARPKD/CHF Alliance at 717-529-5555.  I encourage you to call today.

Sincerely,

Colleen Zak, President
ARPKD/CHF Alliance