Actively Recruiting
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
Led by Minovia Therapeutics Ltd. · Updated on 2025-10-01
100
Participants Needed
1
Research Sites
159 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female, age 3 to 85 years
- For patients with Primary Mitochondrial Disease: Clinical diagnosis of PMD confirmed by mitochondrial DNA sequencing
- For Healthy Volunteers: Normal vital signs and body mass index (BMI) for age
- For Healthy Volunteers: No active medical conditions or diseases
- For Healthy Volunteers: No current medications except acetaminophen and naproxen sodium
- For all subjects: No viral or bacterial illness in the past 2 weeks
- For all subjects: No antibiotic or antiviral medications in the past 2 weeks
- For all subjects: No blood transfusion in the past 2 weeks
- For all subjects: No current pregnancy
- For all subjects: Not currently breastfeeding
- For all subjects: Alcohol use less than 2 drinks per day
- For all subjects: No recreational or illicit drug use in the previous 1 year
- For all subjects: No tobacco or nicotine containing products in the previous 1 year
- Patient, parent, or guardian able to understand and provide voluntary written informed consent
You will not qualify if you...
- History of prior treatment with allogeneic hematopoietic stem cell transplantation
- History of prior treatment with gene therapy
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Sheba Medical Center - Tel Ashomer
Ramat Gan, Israel, Israel, 5266202
Actively Recruiting
Research Team
L
Lea Bensoussan, MSc
CONTACT
N
Natalie Yivgi Ohana, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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