Collecting blood and skin samples from patients with primary mitochondrial diseases and healthy volunteers

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

This study is collecting blood and skin samples from people with primary mitochondrial diseases and healthy volunteers to see if they can find new markers that show how well mitochondria are working.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: 3 Years to 85 Years
• Sex: All
• Sponsor: Minovia Therapeutics Ltd. (Industry-sponsored)
• Locations: 1 site (Ramat Gan, Israel)
• Trial ID: NCT06474104 on ClinicalTrials.gov

What this trial studies

This observational study aims to identify potential biomarkers related to mitochondrial function by collecting blood and skin samples from patients diagnosed with primary mitochondrial diseases (PMDs) and healthy volunteers. The research will focus on evaluating mitochondrial performance and functionality through various assays, comparing the results between the two groups. Additionally, the study seeks to understand the correlation between heteroplasmy levels in different blood cell types and how these may affect biomarker outcomes. Skin fibroblasts will also be collected to establish induced pluripotent stem cell (iPSC) lines for further pre-clinical studies of mitochondrial augmentation technology (MAT).

Who should consider this trial

Good fit: Ideal candidates include individuals aged 3 to 85 years with a clinical diagnosis of primary mitochondrial disease confirmed by mtDNA sequencing.

Not a fit: Patients with a history of prior treatment with allogeneic hematopoietic stem cell transplantation or gene therapy may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnostic tools and therapeutic strategies for patients with primary mitochondrial diseases.

How similar studies have performed: While the approach of identifying mitochondrial biomarkers is being explored, this specific study's methodology and focus on iPSC lines from PMD patients is relatively novel.

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.

Where this trial is running

Ramat Gan, Israel

• Sheba Medical Center - Tel Ashomer — Ramat Gan, Israel, Israel (Recruiting)

Study contacts

• Study coordinator: Lea Bensoussan, MSc

Conditions Primary Mitochondrial Diseases; Mitochondrial; Research; PMD; Rare Diseases