July 13, 2016
Participation Request for ARPKD International Studies
Do you have a child with ARPKD?
The University of Alabama at Birmingham Hepato/Renal Fibrocystic Disease Core Centre (UAB HRFDCC) has developed a unique set of clinical, genetic and educational resources for ARPKD.
Autosomal recessive polycystic kidney disease (ARPKD) and other hepato-renal fibrocystic diseases (HRFD) are relatively rare recessive disorders, but constitute an important set of childhood nephropathies. Rare disease research requires greater collaboration than the efforts in common diseases where patient resources are routinely available and large repositories can be built locally. For the HRFD, experimental studies would be well served by case accrual that coordinates collection of clinical data, bio-specimens (DNA and tissues) and mutational information. The centralization and sharing of clinical and genetic information, as well as bio-materials, can provide a critical impetus for more rapid progress by the research community.
Participation in this study is open to both residents of Canada and the
US and is strictly anonymous. There are three studies available: Clinical Database, Tissue Repository and Genetic Studies.
If you are interested in having your child participate you are encouraged to do following three steps:
1. Go to: http://www.uab.edu/medicine/hrfdcc/studies and download the FAQ for you and your child’s doctor.
2. Call Elena Gibson, RN, the Research Coordinator (RC) for the study at 202-476-2197 for questions or to participate.
3. Send in the forms for each study you would like your child to participate in:
- Clinical Database
- Tissue Repository
- Genetic Studies
In this competitive renewal, the UAB HRFDCC will continue to compile baseline and longitudinal clinical information in their HRFD Clinical Database; expand our bio-materials (DNA and tissue) repositories; and deploy new strategies to identify genetic mutations in ARPKD and other HFRD patients, including new tools to interpret PKHD1 missense variants. Clinical and genetic data, as well as patient bio-specimens, will be drawn from tertiary care centers throughout the Americas (North, Central, and South). Finally, they will utilize the learning management system established in their CTSA-funded program to establish a multi-modality resource for their expanding portfolio of HRFD-related educational information and tools.
The goal for this renewal application is to acquire a sufficient volume of clinical data, biological specimens, and genomic information in a centralized resource to accelerate discovery research in human HRFD and integrate the resulting data in an enabling platform for developing new, targeted interventional strategies, assessing genotype-phenotype correlations, and identifying new disease genes by the Investigator User Base, as well as other members of the research community.
Please note this is a 3rd party research study and is not under the supervision of the PKD Foundation of Canada. That said, the PKD Foundation of Canada feels the collection of this information will benefit ARPKD research and those affected with ARPKD residing in Canada.
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