You might have heard about studies at UAB for ARPKD. Maybe you or your child is a participant already. We are looking to help them spread the word about it…because it’s imperative that they increase enrollment of patient participants.
Why? This study, in part funded by the PKD Foundation and the money so many of us ARPKD families have raised year after year, is the the first of it’s kind, following patients over time (and includes the most years of data currently available), amassing the largest clinical data list of it’s kind.
The PKD Foundation is the first organization that brought together the original plan a few years ago to combine all the data from the studies (current and past) for PKD (C-Path, Phase II) — and they funded the start up and continue to fund it. The information is being gathered for the specific use in determining outcomes in the pursuit of drug therapies and there is good news to report. Because of the success of this project in their work with the FDA and the PKD Foundation’s continued support of it, members of the Board of Trustees are hoping to grow the UAB database. The ARPKD/Cystic Disease Community needs to be ready with information if and when pharmaceutical companies, the FDA or the PKD Foundations’ Scientific Advisory Committee and Drug Discovery Advisory Committees requires such information.
For information…Accelerating Treatments to Patients.
Thank you, thank you to those that have provided your information and to your doctors who’ve done their part by supplying medical information and yearly updates. (Please check in with the study to be sure they have all the information from your doctors). As someone who has enrolled her kids I have to tell you it isn’t hard at all.
Details of Study
In this continuation study, along with ARPKD they have added other diseases causing fibrosis and cysts in the kidney and liver (ARPKD and Hepato/Renal Diseases).
This study does not have any follow up and are looking receive a blood sample to isolate DNA or/and receive tissue that will be discarded after nephrectomies or autopsy.
The study in brief:
“Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) “. Dr. Guay-Woodford is the principal investigator. This study will incorporate Hepato/Renal Fibrocystic Disease, including ARPKD, Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, Congenital Hepatic Fibrosis (CHF), Caroli syndrome (CS), Oro-Facial-Digital syndrome Type I (OFD1), Nephronophithisis (NPHP), and Glomerulocystic Kidney Disease.
Both males and females can participate in this study – (alive or deceased) up to 35 years (including fetuses) with diagnosis of ARPKD or another Hepato/Renal Fibrocystic disease based on clinical information, imaging studies, biopsy, autopsy or genetic data.
Individuals affected with Autosomal Dominant Polycystic Kidney Disease (ADPKD), urinary tract malformations, or other fatal and severe defect of other systems present at birth suggesting a diagnosis other than HRFD cannot participate. (removed ”)
Goals for the Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource are:
1.- Clinical Database: include clinical information from all patients who meet the inclusion criteria for hepato/renal fibrocystic diseases (diseases causing fibrosis and cysts in the kidney and liver).
2.- Mutational Database: Incorporate result of genetic testing from children with ARPKD and other hepato/renal fibrocystic disease to identify genetic mutations, establish a DNA bank for patients with hepato/renal fibrocystic diseases and develop a Mutational Database. We will ask for a blood sample to obtain DNA. If the participant agrees to it, the Core will send the necessary materials to obtain and ship to our lab an additional blood sample drawn at the patient’s next regular blood test.
3– Tissue Resource: Much of the research that is performed on diseases of the kidney, including recessive genetic diseases, requires human tissue from both affected as well as non-affected (controls) individuals. We are creating a Tissue Bank to save samples of hepato/renal fibrocystic disease affected tissues for studies of these disorders.
4– Educational Resource: We have developed and continue to expand a multi-media, web-based resource to provide a reliable, up-to-date, and comprehensive information about ARPKD and Hepato/Renal Fibrocystic Diseases for families, their physicians, and genetic counselors.
Where do you get information?
Thank you to all who have participated and those of you who will.
Julia Roberts, mom to two kids with ARPKD, post kidney transplant 5 & nearly 3 years.
Study information contact:
Teresa Chacana, RN, BSN, CPN
Research Nurse Coordinator
Division of Research
Department of Genetics, University of Alabama at Birmingham