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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.
A thorough review of outcome measures that assess disease progression has not been established for any of the subcategories of Alexander disease.
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.
To identify the underlying causes of bone marrow failure diseases for the purpose of developing and modifying treatment and diagnosis procedures.
This study will test whether supplemental oxygen therapy, a common post-discharge treatment for BPD, improves outcomes.
The goal of this study is to investigate the efficacy and safety of Canagliflozin (which is experimental) in children and adolescents ages 10 to 18 years old with Type 2 diabetes and poor control (i.e., an HbA1c of 6.5% to 10.5%).