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

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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).

Why it matters

Who can join: the full rules

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 it's running

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

Study contacts

• Study coordinator: Lea Bensoussan, MSc
• Email: lea@minoviatx.com
• Phone: 0586101291

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Evaluating MNV-201 for patients with low risk myelodysplastic syndromes

  This study is testing a new treatment called MNV-201 to see if it can help people with low risk myelodysplastic syndromes make more blood cells and rely less on blood transfusions.

  Recruiting Phase 1 Minovia Therapeutics Ltd. · Jerusalem, Israel · NCT06465160

• Transplantation of MNV-201 for treating Pearson Syndrome in children

  This study is testing a new cell therapy called MNV-201 to see if it can help children with Pearson Syndrome feel better and manage their symptoms.

  Recruiting Phase 2 Minovia Therapeutics Ltd. · Ramat Gan, Israel · NCT06017869

• Donation of placenta to collect mitochondria for future mitochondrial augmentation therapies

  This project collects placentas donated by healthy women having elective C-section deliveries so mitochondria can be harvested for possible future mitochondrial augmentation therapies.

  Recruiting Minovia Therapeutics Ltd. · Ramat Gan · NCT03762512

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.