mitochondrial-diseases Clinical Trials
A listing of mitochondrial-diseases medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.
Found 27 clinical trials
Mitochondrial Donation: An 18 Month Outcome Study.
The Investigator proposes to record the fetal and postnatal development of children conceived using Mitochondrial Donation (MD) and to perform expert assessment of development at 18 months (corrected for gestational age) using the internationally validated Bayley-III developmental assessment tool.
The Natural History of Mitochondrial Diseases
The Natural History of Mitochondrial (MITO) Diseases (a longitudinal study observing the natural history of mitochondrial diseases) The goal of this observational study (non-randomised retrospective and prospective) is to fully characterise primary MITO disease; that includes both sexes/genders, over 18 years of age and healthy volunteers]. The main question[s] it …
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders caused by problems with the cell …
Natural History Study - Mitochondrial Disease
Carriers of the m.3242A>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms. The investigators would like to learn more about these disorders and have designed a "Natural History Study" to monitor these conditions over time so that …
Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells
In this project, the investigators are using iPSC lines derived from patients with Leigh syndrome that carry mutations in the mitochondrial (mtDNA) and in the nuclear DNA (nDNA) to reprogram them into neural progenitor cells and into dopaminergic neurons. The researchers are using this experimental system to screen FDA (Food …
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
Mitochondrial diseases are a genetically diverse group of disorders, some of which are caused by mutations or deletions in the mitochondrial DNA (mtDNA) and which display a wide range of severity and phenotypes. Despite a prevalence of roughly 1 in 8500 in the population there is no effective treatments for …
Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders
The study involves up to 5 visits for a fasting blood draw, behavioral assessments, and/or questionnaires. Other samples may be collected when appropriate. This study is currently recruiting. There is no cost for visits or study-related exams.