Collecting blood and skin samples from people with primary mitochondrial diseases and healthy volunteers

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for people with a primary mitochondrial disease, and healthy volunteers, to give blood and skin samples.

Age

3 to 85 years

Sex

Male or female

Disease stage

Patients need a clinical diagnosis of primary mitochondrial disease confirmed by mtDNA sequencing. Healthy volunteers need normal vital signs and BMI for age, and no active illness.

Earlier treatment

No antibiotic or antiviral medicines and no blood transfusion in the past 2 weeks. Healthy volunteers take no current medicines other than acetaminophen and naproxen sodium. No past donor stem cell transplant or gene therapy.

Biomarker or test result

For patients: the disease must be confirmed by mtDNA sequencing.

Main reasons for not taking part

• Past allogeneic hematopoietic stem cell transplant (donor blood stem cells) or gene therapy
• Viral or bacterial illness in the past 2 weeks
• Pregnant or breastfeeding
• Alcohol use of 2 or more drinks a day
• Recreational or illicit drug use, or tobacco or nicotine products, in the past 1 year

The registry criteria, word for word

Check if you might fit

Answer for yourself. This is not a decision: only the study team can say whether you can take part.

• Are you between 3 and 85 years old?YesNo

What the trial wants to find out

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.