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 research study is to understand the impact of transplant on the quality of life of the entire family including sibling donors, other siblings and parents.

The purpose of this study is to collect and store data samples, such as stool samples, mouth swabs and saliva specimens for research about the microbiome. The microbiome is a collection of the microbes, or very small forms of life, that live on and inside the human body.

This study will measure components or metabolites of PEG 3350 in blood and urine from children who are already taking PEG 3350 and compare these levels to measurements of the same molecules from a group of children who are not taking PEG 3350. PEG 3350 will not be prescribed as part of this study. Participants will complete questionnaires and provide access to their medical records. The study is being conducted in collaboration with Ohio State University and the US Food and Drug Administration.

The purposes of this study is to examine efficacy of the IDEAL2 (Improving Diet and Exercise in ALL) caloric restriction and activity intervention integrated into HR B-ALL induction to reduce incidence of end of induction (EOI) MRD ≥0.01%.

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)