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The purpose of this research study is to 1) validate the use of surveys such as fatiguescales, Mitochondrial Disease scales, and quality of life scales, 2) validate clinicalexams, such as muscle strength tests, and the 6 minute walk test, and 3) to define thenatural history of the disease in the Mitochondrial Disease patient population.
Thepurpose of this study is to find out if an investigational drug calledsetmelanotide (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.
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 test an investigational medication in children and adolescents aged 5-17 years old with irritability associated with autism spectrum disorder (ASD). The name of the medication being tested in this study is pimavanserin. This medication is investigational because it has not been approved by the FDA for the treatment of irritability associated with autism. The main risks of this study are from the medication, which include nausea, dizziness, and sleepiness.
Inherited Metabolic Disorders (IMD) are single gene conditions that affect metabolic pathways. IMD are individually rare, but collectively common. Advances in diagnosis and management have greatly increased the life expectancy of patients with IMD. Gaps in our knowledge about adult neurocognitive outcomes and quality of life confounds the ability to obtain critical therapeutic supports, including social services and vocational rehabilitation. The lack of information also complicates our ability to provide anticipatory guidance to the families of younger patients about prognosis and how to optimize outcome. This study examines neurocognitive outcomes for adults with IMD with a focus on executive and adaptive function, domains necessary for managing life skills, using an entirely remote format.
Participants in this study will complete online surveys on their life skills, medical self-management skills, and quality of life. Thinking skills will be assessed through online questionnaires and a web-based collection of games that test executive function. Some participants will be asked to take part in an interview about their experience as an adult and the transition from pediatric to adult-centered healthcare.