Kidney Week

Abstract: INFO05-SA

The Inherited and Polycystic Kidney Disease Program

Session Information

• Informational Posters - 3
  October 26, 2024 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

• No subcategory defined

Authors

• Wink, Krista Renee, Children's National Hospital, Washington, District of Columbia, United States

Krista Renee Wink

• Salcedo-Giraldo, Jordy, Children's National Hospital, Washington, District of Columbia, United States

Jordy Salcedo-Giraldo, MD

• Freiman, Andrew, Children's National Hospital, Washington, District of Columbia, United States

Andrew Freiman, MS

• Sgambat, Kristen, Children's National Hospital, Washington, District of Columbia, United States

Kristen Sgambat, PhD, RD

• Berger, Seth I., Children's National Hospital, Washington, District of Columbia, United States

Seth I. Berger, MD, PhD

• Pyle, Louise C., Children's National Hospital, Washington, District of Columbia, United States

Louise C. Pyle, MD, PhD

• Gulati, Ashima, Children's National Hospital, Washington, District of Columbia, United States

Ashima Gulati, MD, PhD, FASN

Group or Team Name

• IPKD Program Team.

Description

The Inherited & Polycystic Kidney Disease Program is a pediatric nephrogenetics program that offers personalized care by integrating nephrology, genetics and other specialties to provide patients with multiple services in one visit, and encourages informed participation in research.

Recognition
Designation as a Polycystic Kidney Disease Foundation Pediatric Clinic for higher-level ADPKD care integrating clinical and research offerings.

Research
Genetic Studies of Heritable Kidney Diseases Registry (STUDY00000728) assesses genotype-phenotype correlations and reclassify variants of unknown significance.

Two industry-sponsored ARPKD clinical trials provide infants (NCT04786574) and children (NCT04782258) the opportunity to participate in phase 3b drug trials.

We encourage and assist families in informed participation in the PKD Foundation patient-powered ADPKD Registry.

Core Research Facilities
CNH's Rare Disease Institute leads innovative research in rare and inherited diseases.

Patients with an unsolved monogenic condition are offered informed enrollment with the Pediatric Mendelian Genomics Research Center that aims to accelerate the diagnostic yield of rare single-gene conditions as part of the multi-site GREGoR Consortium.

Funding

• The Polycystic Kidney Disease Foundation, Otsuka Pharmaceuticals, K12 Child Health Research Award