Blood and skin samples could unlock new mitochondrial disease treatments
NCT ID NCT06474104
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study collects blood and skin samples from 100 people with primary mitochondrial diseases and healthy volunteers aged 3 to 85. Researchers will study how different mitochondrial mutations affect cell function and look for biomarkers. The samples will also help test a new therapy called mitochondrial augmentation technology (MAT).
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could help researchers develop a new therapy called mitochondrial augmentation technology (MAT) for mitochondrial diseases.
- What could go wrong
- This is an early-stage sample collection study, not a treatment trial. It may not lead to an effective therapy, and results may not apply to all patients.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 100 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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May 2024
- Expected to finish
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May 2027
An estimate. End dates often move.
- Lead sponsor
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A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Samples of peripheral blood will be collected from up to 50 patients with PMD and up to 50 healthy volunteers. Samples of skin will be collected from up to 50 patients with PMD.
- Ages
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3 to 85 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Sheba Medical Center - Tel Ashomer
RECRUITINGRamat Gan, Israel, 5266202, Israel