The MMA and PA Insight Study is a pilot study of cognitive and behavioral assessments for certain metabolic diseases. This study will evaluate how different assessments can be used for people with methylmalonic acidemia (MMA) and propionic acidemia (PA). Several tests will be evaluated for how well they can measure verbal communication, processing speed, life skills, quality of life and sleep.
A pilot study is a research study with a small number of participants that takes place before a planned larger study to make sure that the methods or design of the larger study will be appropriate. The purpose of this pilot is to discover which tests or questionnaires might show changes in thinking or behavior when a potential new treatment is studied. HemoShear Therapeutics is sponsoring this research study.
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Many children and adults with MMA and PA have difficulties learning, communicating, relating to others and participating in activities of daily living. As new treatments for MMA and PA enter into clinical studies, researchers will need effective ways to measure improvements in processing information, communicating and functioning in general.
The MMA and PA Insight Study is designed to identify the most useful tests for clinical studies. It will determine whether it is possible to conduct testing online with children and adults so this approach can be used in future research studies.
This study is being conducted online and does not involve any visits to a clinic. Participants will take a few tests online and have a video call with a study investigator.
The testing session will include a brief background interview with the MMA/PA participant or caregiver, if the child is too young or unable to participate.
We anticipate that at least 25 people with MMA or PA will join the study. Parents/caregivers of children or adults who are unable to participate will be asked to complete the questionnaires. The participants will be 3 years of age or older, with or without having an organ transplant. All participants need to have access to a private computer and/or an iPad or similar device.
Volunteers for this study will be given a summary of the subject's performance on the tests. You can feel good that the study may lead to a better understanding of how MMA and PA affect functioning and behavior. The study may also show how best to measure benefits of potential new treatments in clinical trials. Families will receive a gift card to recognize their time and effort.
Susan Waisbren, PhD, is a world-wide leading expert in neuropsychological evaluations in children with metabolic and other genetic disorders. She is a Professor of Pediatrics at Harvard Medical School and served as the psychologist for the Metabolism and Genetics Clinics at Boston Children’s Hospital for 40 years.
HemoShear Therapeutics is a biotechnology company that has developed an experimental drug treatment for MMA and PA called HST5040. The company plans to begin a clinical study with the drug once it is appropriate to proceed given the Covid-19 outbreak. Please sign up if you would like to receive information from HemoShear.