Cure Glomerulonephropathy Network (CureGN) is a multi-year study of 2,400 children and adults with four rare glomerular (kidney) diseases at over 50 centers in the US, Canada, and Italy. The purpose of CureGN is to create a patient research network to learn about four major causes of glomerular disease : 1. Minimal Change Disease (MCD) 2. Focal Segmental Glomerulosclerosis (FSGS) 3. Membranous Nephropathy (MN) 4. IgA Nephropathy (IgAN)

The purpose of this research study is to 1) validate the use of surveys such as fatigue scales, Mitochondrial Disease scales, and quality of life scales, 2) validate clinical exams, such as muscle strength tests, and the 6 minute walk test, and 3) to define the natural history of the disease in the Mitochondrial Disease patient population.

Our team is working on a study to better understand neurological problems, including seizures and developmental delays, that occur in children with hyperinsulinism, including HI/HA syndrome, and type 1 diabetes mellitus. The study involves a one day visit to The Children’s Hospital of Philadelphia and The University of Pennsylvania for a specialized magnetic resonance imaging scan (MRI) of the brain, an electroencephalogram (EEG), blood draw, and completion of questionnaires to evaluate development and behavior. The entire study visit is expected to take about five hours. If you are interested in learning more, please contact us at HIResearch@email.chop.edu.

The purpose of this study is to find out if an investigational drug called setmelanotide (RM-493) can help control body weight in people with certain genetic modifications in their genes that play a key role in the regulation of body weight. Males and females, age 6 to 65, with certain genetic variants (MC4R pathway) may be eligible to participate.  If you are confirmed eligible for the study, then participation will last up to 48 Weeks.  Participants will complete Screening (Up to 8 Weeks), Open-Label Treatment (Up to 16 Weeks), and may be eligible to continue in the Double-Blind Treatment Period (Up to 24 Weeks).  Participants will complete research procedures including physical exams, blood draws, ECGs, and questionnaires.  Participant will also need to self-inject the study drug once daily for the duration of their participation. 

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. This study is designed to assess whether experimental drug ASP0367 is safe and effective for patients with mitochondrial myopathy. Participants will take the study drug orally once per day. This is a placebo-controlled study followed by an open-label extension, which means that during the treatment period some patients will receive ASP0367 and some will receive a placebo, which does not contain active study medication. At the end of the treatment period all participants will be offered ASP0367 for a 6-month period.

The study will last roughly 1 year and 8 months and involves at least 11 visits to CHOP, remote interviews, video assessments, and home visits for additional blood draws. If you are interested in learning more about this study, please visit ClinicalTrials.gov or contact the study team for additional information.

The Mitochondrial Medicine Program at the Children’s Hospital of Philadelphia is conducting a study focusing on non-invasive MRI procedures to measure biological activity within leg muscles of individuals, including both healthy volunteers and those with mitochondrial disease. This type of MRI is for research only, and it is not currently approved by the FDA. There is no direct benefit, but this research may contribute to future mitochondrial medicine. Your participation will last for approximately half a day during a visit at CHOP. We hope this research will contribute to the current knowledge of mitochondrial disease and improve diagnostic approaches. To learn more or inquire about this research study, please contact Sara Nguyen (nguyens2@chop.edu)

This study is being done to understand how the brain of autistic adolescents and adults process sound and language.  We hope the information gained from this study may lead to future therapies for language difficulties in autistic individuals.   

We want to learn more about how the brains of children on the autism spectrum process sounds and language. We hope what we learn will lead to future supports for language and communication differences in autism.

The goal of this research study is to transform outcomes for all people affected by single ventricle heart disease, particularly those with Fontan circulation. The Fontan Outcomes Network (FON) strives to advance our understanding of, and care for, single ventricle heart disease and address some of the major challenges. The ultimate goal is to dramatically improve physical health and functioning, neurodevelopment, and emotional health and resilience. To achieve that, we will collaborate between many care centers and with individuals with single ventricle heart disease and their families, to systematically collect information across the entire lifespan. FON includes a registry study, meaning information will be collected by your doctors and the researchers and entered and stored in a bank of information called a registry to be used for research as well as a learning network for quality improvement initiatives. 

The purpose of this investigation is to evaluate the impact of non-persistent and persistent chemical exposures on autoimmunity, gene expression and the microbiome in children with and without Crohn’s disease. If these chemical exposures are associated with differences in the epigenome and microbiome that are known to predispose for Crohn’s disease, the proposed research could further support changes in dietary behaviors to limit exposure, and efforts to regulate manufacturing processes that unintentionally and intentionally add these chemicals to food.