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New treatment option 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?
deoxycytidine and deoxythymidine is an investigational medicine, given as an once-daily pill taken by mouth, being studied as a potential treatment for mitochondrial diseases.
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
- Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis.
- 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's taking place
- 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 - 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?
Study sites include Montreal, Quebec, Canada. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.