Primary Mitochondrial DiseasesNCT06474104
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
An observational study of Primary Mitochondrial Diseases, run by Minovia Therapeutics Ltd. at 1 site in Israel.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 to 85 yearsHealthy volunteers can take part
- Conditions the study is for
- Primary Mitochondrial Diseases
- How many people
- 100 participants
- Where
- 1 siteIsrael
- Study dates
- 12 May 2024to 30 May 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 85 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- Male or female, age 3 to 85 years.
- For patients with Primary Mitochondrial Disease:
- Clinical diagnosis of PMD confirmed by mtDNA sequencing.
- For Healthy Volunteers:
- Normal Vital signs and BMI for age
- No active medical conditions or diseases
Show all 17Show fewer
- No current medications, other than acetaminophen and naproxen sodium
- For All Subjects:
- No viral or bacterial illness in past 2 weeks
- No antibiotic or antiviral medications in past 2 weeks
- No blood transfusion in past 2 weeks
- No current pregnancy
- Not currently breastfeeding
- Alcohol use less than 2 drinks / day
- No recreational or illicit drug use in previous 1 year
- No tobacco or nicotine containing products in previous 1 year
- Patient, parent or guardian able to understand and provide voluntary written informed consent.
Who cannot join
- 1. History of prior treatment with allogeneic hematopoietic stem cell transplantation, or gene therapy.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Israel1 site, 1 recruiting
- Recruiting
Sheba Medical Center - Tel Ashomer
Ramat Gan, Israel, 5266202
Yair Anikster, MD, 035307840 ext. 972, yair.anikster@sheba.gov.il
Shoshana Franks, 0545203703 ext. 972, shoshana.franks@sheba.health.gov.il
About this study
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.
Read the detailed description
The aim of this study is to identify mitochondria-related potential biomarkers from peripheral blood specimens that will function as a diagnostic tool. The intention is to develop direct and indirect functional evaluation for mitochondria performance, and to perform a comparison analysis between healthy population and patients with compromised mitochondrial function. In order to define what is a dysfunctional mitochondrial with a clinical significance, the above assays will function as a junction between the mitochondria characteristics (i.e content and metabolic function) and the blood cell functionality, in order to both differentiate between the two cohorts by means of clinical correlation, as well as to set a clinical range that correlates to a pathology.
In addition, the study aims to gain a deeper understanding of the correlation between heteroplasmy level in different hematopoietic subsets in the different PMDs, and how this differential heteroplasmy may affect biomarker readouts and/or cell functionality or distribution.
In addition, this study aims to collect skin fibroblasts from PMD patients, for the purpose of establishing iPSC lines with different mtDNA mutations and/or deletions, in order to study efficacy of MAT in patient cells in pre-clinical models derived from these iPSC lines.
- Conditions
- Primary Mitochondrial Diseases
- Keywords
- Mitochondrial, Research, PMD, Rare Diseases
- Medical subject headings
- Rare Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
mitochondrial function
Analysis on how different mitochondrial mutations (sequence / heteroplasmy) are related to mitochondrial function and quantity in the white cell line and their characteristics.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jun 2024
- Study start12 May 2024
- Primary completion30 May 2027 (estimated)
- Study completion30 May 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Mitochondrial DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Minovia Therapeutics Ltd.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06474104
- Sponsor's protocol ID
- MNV-008
- Status last verified
- Sep 2025
- First submitted
- 19 Jun 2024
- Last updated
- 1 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
- ClinicalTrials.gov ID
- NCT06474104
- Acronym / sponsor ID
- MNV-008
- Conditions
- Primary Mitochondrial Diseases
- Keywords
- Mitochondrial, Research, PMD, Rare Diseases
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Minovia Therapeutics Ltd.Industry (pharma, biotech, devices)
- Study start
- 12 May 2024 (actual)
- Primary completion
- 30 May 2027 (estimated)
- Study completion
- 30 May 2027 (estimated)
- First posted
- 25 Jun 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The aim of this study is to identify mitochondria-related potential biomarkers from peripheral blood specimens that will function as a diagnostic tool. The intention is to develop direct and indirect functional evaluation for mitochondria performance, and to perform a comparison analysis between healthy population and patients with compromised mitochondrial function. In order to define what is a dysfunctional mitochondrial with a clinical significance, the above assays will function as a junction between the mitochondria characteristics (i.e content and metabolic function) and the blood cell functionality, in order to both differentiate between the two cohorts by means of clinical correlation, as well as to set a clinical range that correlates to a pathology.
In addition, the study aims to gain a deeper understanding of the correlation between heteroplasmy level in different hematopoietic subsets in the different PMDs, and how this differential heteroplasmy may affect biomarker readouts and/or cell functionality or distribution.
In addition, this study aims to collect skin fibroblasts from PMD patients, for the purpose of establishing iPSC lines with different mtDNA mutations and/or deletions, in order to study efficacy of MAT in patient cells in pre-clinical models derived from these iPSC lines.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 3 to 85 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (17 listed)
- Male or female, age 3 to 85 years.
- For patients with Primary Mitochondrial Disease:
- For Healthy Volunteers:
- For All Subjects:
- Patient, parent or guardian able to understand and provide voluntary written informed consent.
Key exclusion criteria (1 listed)
- 1. History of prior treatment with allogeneic hematopoietic stem cell transplantation, or gene therapy.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
mitochondrial function
Time frame: 1 year
Analysis on how different mitochondrial mutations (sequence / heteroplasmy) are related to mitochondrial function and quantity in the white cell line and their characteristics.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Oct 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Mitochondrial Diseases, run by Minovia Therapeutics Ltd. at 1 site in Israel.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 17 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Israel. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Lea Bensoussan, MSc (0586101291 ext. +972, lea@minoviatx.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
mitochondrial function (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Oct 2025.