The primary goal of this research study is to learn if patients with autosomal recessive polycystic kidney disease (ARPKD) are at risk for brain aneurysms or cardiovascular abnormalities.

CHOP is partnering with Children's National Medical Center (CNMC) to create a research database of data and blood samples of people who have autosomal polycystic kidney disease (ARPKD) or another hepato/renal fibrocystic disease (HRFD).

We are recruiting patients with genetically confirmed primary mitochondrial myopathy who are at least 18 years old for a randomized, double-blind, placebo-controlled study of a new drug to treat this disorder.

Parents and their child between 16 and 21 on the autism spectrum are both asked to partner with us for this study as we learn more about the decisions you make about transportation, including driving. We also hope to learn about how transportation influences quality of life and other outcomes.

The purpose of this research study is to test how well a common, standardized quality of life tool measures quality of life among children on the autism spectrum who are minimally verbal or have an intellectual disability.

A thorough review of outcome measures that assess disease progression has not been established for any of the subcategories of Alexander disease.

The goal of the study extension is to see whether the incretin hormone GIP increases insulin secretion in individuals with CF and normal glucose tolerance compared to individuals without CF and normal glucose tolerance.

The purpose of this research study is to collect different types of samples (such as stool, swabs, urine) to form a biorepository.

The purpose of the study is to evaluate blood sugar levels and beta-cell function in adolescents and adult with KATP hyperinsulinism whom did not undergo pancreatectomy.