Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome

Plain-language summary

This study evaluates a treatment called deoxycytidine and deoxythymidine in people with mitochondrial depletion syndrome. It is open to children and adults aged 0-60 who carry a disease-causing variant in one of the related genes, such as POLG, RRM2B, or MPV17. It is in Phase 2 and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Phase 2

Status

Recruiting

Sponsor

Kenneth Myers, MD

Intervention

deoxycytidine and deoxythymidine

Start date

10/18/2021

Estimated completion

12/30/2029

Countries

Canada

Related genes

Locations

• Montreal, Canada

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* 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

Exclusion Criteria:

* Inability of a parent or legal guardian to give informed consent for any reason
* Chronic severe diarrhea