Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
Launched by KENNETH MYERS, MD · Mar 15, 2021
Trial Information
Current as of June 27, 2025
Recruiting
Keywords
ClinConnect Summary
This clinical trial is studying a potential new treatment for a group of rare genetic disorders called Mitochondrial Depletion Syndromes (MDS). These conditions happen when there is a serious shortage of mitochondrial DNA, which is essential for producing energy in our cells. This energy shortage can affect various systems in the body, leading to symptoms like muscle weakness, brain issues, and problems with other organs. Currently, there are no effective treatments available for these disorders, so this trial is important because it aims to test a combination of two specific substances, called deoxynucleosides, to see if they can help restore mitochondrial function and improve patients' health.
To participate in this trial, individuals must be children or young adults aged 0 to 60 who have a confirmed diagnosis of a Mitochondrial Depletion Disorder and carry specific genetic mutations. During the trial, participants will receive the deoxynucleosides in a controlled setting to monitor safety and effectiveness. The doses used have been tested in previous studies, and they appear to be safe and well-tolerated. It's a crucial step toward developing a specific treatment for MDS, which could greatly improve the lives of those affected by these challenging conditions.
Gender
ALL
Eligibility 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
About Kenneth Myers, Md
Dr. Kenneth Myers, MD, is a dedicated clinical trial sponsor known for his commitment to advancing medical research and improving patient outcomes. With extensive experience in the field, Dr. Myers leads innovative clinical studies aimed at evaluating new therapies and treatment modalities. His focus on patient-centered research ensures that trials are conducted ethically and with the highest standards of care, fostering collaboration among multidisciplinary teams. Dr. Myers is recognized for his contributions to medical science and his ongoing efforts to bridge the gap between research and clinical practice.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Montréal, Quebec, Canada
Patients applied
Trial Officials
Kenneth Alexis MD Myers, MD PhD FRCPC
Principal Investigator
RI-MUHC, Children Hospital of Montreal (MUHC), McGill University
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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