Treatment for Mitochondrial Depletion Syndrome in Children

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This Phase II clinical trial evaluates the safety, tolerability, and efficacy of deoxycytidine and deoxythymidine in treating children with Mitochondrial Depletion Disorders. The study aims to assess neurological improvements through various clinical assessments, including EEG and quality of life measures. Participants will undergo comprehensive evaluations to monitor their clinical status and mitochondrial function. The trial is open-label and conducted at a single center.

Why it matters

Who can join: the full rules

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

Where it's running

• Research InstituMcGill University Health Centre - Children Hospital of Montreal
  Montreal, Quebec, Canada Recruiting

Study contacts

• Principal investigator: Kenneth Alexis MD Myers, MD PhD FRCPC — RI-MUHC, Children Hospital of Montreal (MUHC), McGill University
• Study coordinator: Kenneth Alexis MD Myers, MD PhD FRCPC
• Email: kenneth.myers@mcgill.ca
• Phone: 514-934-1934

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.