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

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.

Inclusion criteria

• 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
• No tobacco or nicotine containing products in previous 1 year
• Patient, parent or guardian able to understand and provide voluntary written informed consent.

Exclusion criteria

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