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

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.

Study Overview

• Status: Recruiting
• Conditions: Primary Mitochondrial Diseases

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 Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Lea Bensoussan, MSc; Phone Number: +972 0586101291; Email: lea@minoviatx.com
• Study Contact Backup: Name: Natalie Yivgi Ohana, PhD; Phone Number: +972 54 5833727; Email: natalie@minoviatx.com

Study Locations

• Israel
  • Israel
    • Ramat Gan, Israel, Israel, 5266202
      • Recruiting
      • Sheba Medical Center - Tel Ashomer
      • Contact: Yair Anikster, MD; Phone Number: 972 035307840; Email: yair.anikster@sheba.gov.il
      • Contact: Shoshana Franks; Phone Number: 972 0545203703; Email: shoshana.franks@sheba.health.gov.il

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

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.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	1 year

Collaborators and Investigators

• Sponsor: Minovia Therapeutics Ltd.

Study record dates

Study Major Dates

• Study Start (Actual): May 12, 2024
• Primary Completion (Estimated): May 30, 2027
• Study Completion (Estimated): May 30, 2027

Study Registration Dates

• First Submitted: June 19, 2024
• First Submitted That Met QC Criteria: June 19, 2024
• First Posted (Actual): June 25, 2024

Study Record Updates

• Last Update Posted (Estimated): October 1, 2025
• Last Update Submitted That Met QC Criteria: September 25, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Research; Rare Diseases; Mitochondrial; PMD
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Pathological Conditions, Signs and Symptoms; Rare Diseases
• Other Study ID Numbers: MNV-008

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No