Research Studies h1 >
How do I learn more about current open studies?
Below you will find a list of current studies. Clicking on the link will take you to the study summary, which will provide you with all the important details for each study.
How do I participate in a study?
Each study summary provides a list of hospitals or clinics where the study is being run. Using the contact information provided, you may contact any of these facilities in order to request participation in a study.
Showing All Ongoing NAMDC Studies
7413: Advanced Genetic Study and Pilot Newborn Screening for Disorders of Pyruvate Metabolism
Continue the longitudinal natural history study of phenotypic and genetic features of PDC deficiencies by integration with the NAMDC Patient Data Registry and Biorepository, recruitment of a broad group of subjects, and detailed longitudinal follow-up, to identify and objective measurable clinically relevant outcomes, biomarkers, and responses to treatments.
7416: L-Citrulline treatment of nitric oxide deficiency in MELAS: a Phase I dose-finding and safety study
Establish the maximum tolerable dose of L-citrulline in patients with MELAS.
Not Yet Recruiting
7426: Harnessing resilience in adults with primary mitochondrial disease: A pilot study investigating the feasibility of the Promoting Resilience in Stress Management (PRISM) and clinical-focused narrative (CFN) interventions
Evaluate PRISM and CFN interventions in adults with primary mitochondrial disease (PMD). Develop basic statistical pilot information to develop a first efficacy study.