Clinical trial for Mitochondrial Diseases
Official title Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
ClinicalTrials.gov ID: NCT04802707
What this study is testing
What is deoxycytidine and deoxythymidine (dC/dT)?
an investigational oral combination being studied as a potential treatment for mitochondrial DNA depletion syndromes is designed to increase the availability of deoxyribonucleosides needed for mitochondrial DNA synthesis
Plain-language explanation of the investigational treatment. It is being studied and is not an approved or proven therapy. The study team can confirm the details.
- What it's testing
- The study aims to see if these deoxynucleosides are safe and can improve mitochondrial function in children with the disorder.
- Who it's for
- Children ages 0‑18 who have a confirmed genetic diagnosis of mitochondrial DNA depletion syndrome and neurological symptoms.
- What's involved
- Participants will take a prescribed mix of deoxycytidine and deoxythymidine and attend regular clinic visits for safety checks and tests of mitochondrial function.
- Phase 2: a mid-size study of how well it works
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Ages 1 to 60
You may be able to join if
- Children \& Adults (0 -60 Y)
- Written informed consent obtained,
- Clinical Diagnosis of a Mitochondrial Depletion Disorder.
- Pathogenic variant(s) Homozygote and Heterozygote in one of the following genes: POLG, POLG2, C10orf2, RRM2B, MPV17, SUCLA2, SUCLG1, FBXL4, DTYMK
- Females of childbearing age: Negative urinary pregnancy test at screening Agree to use effective contraception for the duration of the study
You likely can't join if
- Inability of a parent or legal guardian to give informed consent for any reason
- Chronic severe diarrhea
The study team makes the final eligibility decision.
Where it is enrolling
- Montreal, Quebec, Canada
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part, but confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 1 month to 60 years. The study team makes the final eligibility decision.
Where is this trial taking place?
This study is enrolling now at Montreal, Quebec, Canada. Enter your location above to see the nearest enrolling site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool that is independent of the study sponsor. Details come from ClinicalTrials.gov. The study team decides eligibility, and your own doctor gives medical advice.