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

NCT06474104 | Recruiting

• 1 other identifier: MNV-008
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Primary Mitochondrial Diseases

Keywords

Mitochondrial; Research; PMD; Rare Diseases

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: 3 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Male or female, age 3 to 85 years.
• For patients with Primary Mitochondrial Disease:
• a. Clinical diagnosis of PMD confirmed by mtDNA sequencing.
• For Healthy Volunteers:
• Normal Vital signs and BMI for age
• No active medical conditions or diseases
• 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

You may not qualify if:

• \. History of prior treatment with allogeneic hematopoietic stem cell transplantation, or gene therapy.

Sponsors & Collaborators

• Minovia Therapeutics Ltd.: lead

Study Sites (1)

Sheba Medical Center - Tel Ashomer

Ramat Gan, Israel, 5266202, Israel

RECRUITING

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Lea Bensoussan, MSc

CONTACT

0586101291; lea@minoviatx.com

Natalie Yivgi Ohana, PhD

CONTACT

54 5833727; natalie@minoviatx.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 19, 2024
• First Posted: June 25, 2024
• Study Start: May 12, 2024
• Primary Completion (Estimated): May 30, 2027
• Study Completion (Estimated): May 30, 2027
• Last Updated: October 1, 2025

Record last verified: 2025-09

Locations

IL (1)