Treatment for Mitochondrial Depletion Syndrome in Children
A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders
This study is testing if a new treatment can help children with Mitochondrial Depletion Syndrome feel better and improve their brain function.
Quick facts
| Phase | Phase 2 |
|---|---|
| Study type | Interventional |
| Enrollment | 200 (estimated) |
| Ages | 1 Month to 60 Years |
| Sex | All |
| Sponsor | McGill University Health Centre/Research Institute of the McGill University Health Centre Academic / other |
| Locations | 1 site (Montreal, Quebec) |
| Trial ID | NCT04802707 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are children and young adults aged 0 to 60 with a clinical diagnosis of a Mitochondrial Depletion Disorder and specific pathogenic gene variants.
Not a fit: Patients who are unable to provide informed consent or have chronic severe diarrhea may not benefit from this study.
Why it matters
Potential benefit: If successful, this treatment could provide a much-needed therapeutic option for children suffering from Mitochondrial Depletion Disorders.
How similar studies have performed: While there is limited existing treatment for Mitochondrial Depletion Disorders, previous studies have shown promise in enhancing mitochondrial function through similar approaches, making this trial a potentially significant advancement.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Montreal, Quebec
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.