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

Launched by MINOVIA THERAPEUTICS LTD. · Jun 19, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a condition called Primary Mitochondrial Diseases (PMDs), which are genetic disorders affecting the mitochondria, the parts of our cells that produce energy. The goal is to collect blood and skin samples from patients with PMDs as well as healthy volunteers. Researchers at Minovia Therapeutics are looking to understand the different kinds of mutations that cause these diseases and to test a new treatment called mitochondrial augmentation technology (MAT). This research could help identify potential biomarkers, which are indicators of how the mitochondria are functioning, and may eventually lead to effective treatments.

To participate in this trial, you need to be between 3 and 85 years old. If you have a confirmed diagnosis of a Primary Mitochondrial Disease, you can apply. Healthy volunteers are also welcome, but they must be in good health without any active medical conditions. Participants will provide blood and skin samples, and they can expect to be closely monitored throughout the study. It’s important to note that volunteers should not have had any recent illnesses or treatments that could affect the results. This trial is a significant step towards understanding and potentially treating these complex mitochondrial diseases.

Gender

ALL

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.