Can we map the course of a rare mitochondrial disease?
NCT ID NCT07775872
First seen Aug 20, 2026 · Last updated Sep 16, 2026 · Updated 3 times
Summary
This global study follows people with POLG-related disorders, a group of rare mitochondrial conditions, to understand how the disease progresses over time. By observing clinical changes in up to 300 participants of all ages, researchers aim to identify key milestones that could serve as benchmarks for future treatments. The study does not test any drug but gathers vital information to bridge the gap between genetic diagnosis and therapy development.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could map the natural course of POLG disease, providing essential benchmarks to speed up development of treatments for this rare genetic condition.
- What could go wrong
- This is an observational study, not a treatment trial, so it won't directly test any therapy. Results depend on consistent data collection across many sites and may take years to yield actionable insights.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
-
About 300 people
The number the study aims to enrol. It can still change while the study runs.
- Started
-
Jun 2026
- Expected to finish
-
Jun 2031
An estimate. End dates often move.
- Lead sponsor
-
Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Target Population: Patients of all ages with genetically confirmed POLG disease (autosomal recessive or dominant).
- Ages
-
Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
-
Anyone
- Healthy volunteers
-
Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * male \& female from age 0 to 75. * A genetically confirmed POLG -associated disorder based on both phenotype and genotype is required. * Parental/guardian permission (informed consent) and if appropriate with child assent. Exclusion Criteria: * Diagnosis of mitochondrial disorder other than POLG * Subject with POLG Variant of unknown significance or benign variant. * Parents/guardians or subjects who, in the opinion of the investigator, may be non-compliant with the study schedules or procedures. * Subjects unable or unwilling to provide informed consent. * History of or current clinically important condition other than what is related to the PMD which, in the opinion of the Investigator will confound the results of the NHS.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for Polg, primary mitochondrial myopathy are added.
Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
-
The places running it
21 sites in 9 countries. The list below names each one and where it is.
-
The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
-
A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
-
Addenbrooke's Hospital, Cambridge University Hospitals
NOT_YET_RECRUITINGCambridge, Cambridgeshire, CB2 0QQ, United Kingdom
-
Akron Children's Hospital
NOT_YET_RECRUITINGAkron, Ohio, 44308, United States
-
Baylor Hospital
NOT_YET_RECRUITINGDallas, Texas, 75246, United States
-
Children's Hospital Colorado
NOT_YET_RECRUITINGAurora, Colorado, 80045, United States
-
Children's Hospital of Philadelphia-Philadelphia
NOT_YET_RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
-
Children's Hospital, Helsinki University Hospital-Helsinki
NOT_YET_RECRUITINGHelsinki, Uusimaa, 00290, Finland
-
Columbia University Irving Medical Center
NOT_YET_RECRUITINGNew York, New York, 10032, United States
-
Copenhagen University Hospital- Copenhagen
NOT_YET_RECRUITINGCopenhagen, Capital Region of Denmark, 2100, Denmark
-
Great Ormond Street Hospital
NOT_YET_RECRUITINGLondon, Central London, WC1N 1EH, United Kingdom
-
Haukeland University Hospital-Bergen
RECRUITINGBergen, Vestland, 5009, Norway
-
Hospital 12 de Octubre- Madrid
RECRUITINGMadrid, Madrid, 28041, Spain
-
Karolinska University Hospital
NOT_YET_RECRUITINGSolna, Stockholm County, 171 76, Sweden
-
Maastricht University-Maastricht
NOT_YET_RECRUITINGMaastricht, Limburg, 6200 MD Maastricht, Netherlands
-
Oslo University Hospital
NOT_YET_RECRUITINGOslo, Oslo, 0424, Norway
-
Oulu University Hospital-Oulu
NOT_YET_RECRUITINGHelsinki, Uusimaa, 00290, Finland
-
Prince of Wales Hospital, Sydney
NOT_YET_RECRUITINGSydney, New South Wales, 2031, Australia
-
St. Olav's Hospital-Trondheim
NOT_YET_RECRUITINGTrondheim, Trøndelag, 7030, Norway
-
The Queen Silvia Children's Hospital, University of Gothenburg
NOT_YET_RECRUITINGGothenburg, Västra Götaland County, 416 50, Sweden
-
UTHealth Houston
NOT_YET_RECRUITINGHouston, Texas, 77030, United States
-
University Hospital of North Norway - Tromsø
NOT_YET_RECRUITINGTromsø, Troms, 9019, Norway
-
University of California San Diego
NOT_YET_RECRUITINGSan Diego, California, 92121, United States