NCT06474104 Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers

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What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 100 participants in total. It began in 2024-05-12 with a primary completion date of 2027-05-30.

Brief Summary

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 the majority of mitochondrial diseases beyond supportive care (Gorman 2016, Elliott 2008). Many of these, such as Pearson syndrome and Kearns-Sayre syndrome, are early onset disorders, and may lead to mortality within the first decades of life. Importantly, mitochondria are selectively inherited from the mother. In addition, there are numerous diseases in which mitochondrial dysfunction plays an important role. Some examples are Alzheimer's and Parkinson's disease, both of which are known to have mitochondrial involvement. Minovia therapeutics develops a therapeutic intervention called mitochondrial augmentation technology (MAT). For the development work, Minovia needs patients' cells with different mutations that will allow to study the baseline heteroplasmy and functionality of patient hematopoietic cells, identify potential biomarkers to assess mitochondrial content and function in liquid biopsies, and study the efficacy of MAT in different PMDs.

Eligibility Criteria

Inclusion Criteria: 1. Male or female, age 3 to 85 years. 2. For patients with Primary Mitochondrial Disease: a. Clinical diagnosis of PMD confirmed by mtDNA sequencing. 3. For Healthy Volunteers: 1. Normal Vital signs and BMI for age 2. No active medical conditions or diseases 3. No current medications, other than acetaminophen and naproxen sodium 4. For All Subjects: 1. No viral or bacterial illness in past 2 weeks 2. No antibiotic or antiviral medications in past 2 weeks 3. No blood transfusion in past 2 weeks 4. No current pregnancy 5. Not currently breastfeeding 6. Alcohol use less than 2 drinks / day 7. No recreational or illicit drug use in previous 1 year 8. No tobacco or nicotine containing products in previous 1 year 5. Patient, parent or guardian able to understand and provide voluntary written informed consent. Exclusion Criteria: 1\. History of prior treatment with allogeneic hematopoietic stem cell transplantation, or gene therapy.

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