MitoCanada is committed to curating an active list of clinical trials important to patients and mitochondrial disease research.

Tisento Study | Teen MELAS Phone Interview Study

This interview study is aimed at learning more about the experiences of teens with MELAS

Enrolment: Recruiting now

Study Details:

  • Share your MELAS experience to help shape the development of investigational medicines
  • Individuals with genetic and clinical confirmation of MELAS, 12 – 17 years of age, are able to read, speak and comprehend English
  • Interviews via phone or web-based teleconference
  • Study will consist of two 45-minute interviews to be completed at your convenience. 

Compensation: Receive up to $150 CAD for your time.

INTERESTED? Simply provide your first name and contact information (phone and/or email) to Adelphi Values, who is performing the interviews for Tisento and reference the MELAS study

CONTACT: MELAS@adelphivalues.com or call (617) 720-0001

SPONSOR: Tisento Therapeutics

Teens, learn more about this study here

Parents, learn more about this study here

LEARN MORE about Tisento

Gene Therapy for Cardiomyopathy Associated with Friedreich’s Ataxia

This is a Phase 1/2, open-label, dose-ascending, multicenter study of the safety and efficacy of LX2006 for participants who have Friedreich’s Ataxia with evidence of cardiomyopathy.

Enrolment: Recruiting now

Study Details:

  • Confirmed genetic diagnosis of FA, with onset being before 25 years of age
  • Protocol specified ranges for antibodies
  • Protocol specified measures of FA cardiomyopathy

Trial Locations: California, Florida, Iowa, Minnesota and Pennsylvania

LEARN MORE about this study

Neurophth Study | LHON Gene Therapy Trial

this clinical study is to evaluate the safety, tolerability and preliminary efficacy of NFS-02 in the treatment of LHON caused by mitochondrial ND1 gene mutation.

Enrolment: Recruiting now

Study Details:

  • Individuals must be 18 – 75 years of age
  • Clinical manifested vision loss due to LHON, and any eye BCVA ≥ 0.5 LogMAR
  • Genotype testing result shows the presence of G3460A mutation in the ND1 gene
  • Willingness to comply with the clinical study protocol and 5 years of long-term follow-up

Trial Locations: Colorado, USA; Beijing, Guangzhou, Wenzhou China

LEARN MORE about this study

PTC Study | Friedreich Ataxia Safety Study

Study is to assess the long-term safety of vatiquinone in participants with Friedreich ataxia (FA) previously exposed to vatiquinone

Enrolment: Recruiting by Invitation

Study Details:

  • Participants with FA who completed and directly rolled over from a previous vatiquinone clinical study
  • Males and females of childbearing potential must be willing to use an effective method of contraception

Trial Locations: Montreal – CHU Sainte-Justine and Centre de Recherche du Centre Hospitalier de l”université de Montreal (CRCHUM), 5 USA sites, 1 Australia, 1 Brazil, 1 France, 1 Germany, 1 Italy, 1 New Zealand, 1 Spain.

Sponsor: PTC Therapeutics

LEARN MORE about this study

University of Alberta and Stollery | LC-FAO and Carnitine Deficiency Disorder Research Study

This research study is looking at clinical symptoms and investigations in patients with long- chain fatty acid oxidation (LC-FAO) and carnitine metabolism disorders. 

Enrolment: Recruiting now

Study Details:

  • All patients diagnosed with: CPT 1,2, CACT, VLCAD, LCHAD, MAD, TFP, CUD
  •  Your metabolic physician will provide study researchers information about your medical history
  •  If you are a patient in Edmonton, Alberta, you may be asked to provide a blood sample at your next appointment

Contact: If you have any questions or would like to participate in this study, please contact the study PI by contacting saadet@ualberta.ca and aambrose@ualberta.ca 

The project is titled “Generation of national real‐world evidence for patients with long-chain fatty acid oxidation defects in Canada” and the principal investigator of this study is Dr. Saadet Andrews, MD, PhD, FCCMG, FRCPC in the Department of Medical Genetics, University of Alberta.

Recrutiment expires July 24, 2024

LEARN MORE about this study

Tisento Study | MELAS Lived-Experience Interview Study

This interview study is aimed at learning more about the experiences of individuals with MELAS

Enrolment: Recruiting now

Study Details:

  • Individuals with genetic and clinical confirmation of MELAS, 16 years of age and older and fluent in English.
  • Interviews via phone or web-based teleconference
  • Study will consist of two 45- to 60-minute (1.5 hours total) interviews. 

Compensation: $75 (or Canadian equivalent) for completing each interview for a total of $150 (or Canadian equivalent).

Sponsor: Tisento Therapeutics

LEARN MORE about this study

LEARN MORE about Tisento

University of Manitoba | Caregivers of Children with Rare Genetic Diseases Study

Final Posters (Public w Pre-screener).png

Eligibility to complete this survey has expanded to include a bigger range of caregivers! You are now eligible to complete the survey using the link below if you are the primary caregiver to a child with one of the following:
    1. A rare disease diagnosed in 2018 or after (2018 to present)
    2. A suspected rare disease who has gotten a genetic test in 2018 or after (2018 to present)
    3. You have interacted with a Canadian clinical geneticist or genetic counsellor during your child’s diagnostic journey
    4. You can complete a written online survey in English, French, or Simplified Chinese
If you were previously screened out of the survey but meet this new criteria and would still like to participate you can!

We anticipate that the survey will require approximately 15-20 minutes of your time and is available to complete in English, French, and Simplified Chinese. If you would like to complete the survey in more than one sitting, you will have the option of using a ‘return code’ to save your responses and return to the same survey later.

Take the Survey Now

We kindly ask that you do not post this link on public forums including social media.

If you would like more information about this study, please contact Vivien at truongv2@myumanitoba.ca

LC-FAOD In-Clinic Disease Monitoring Study | Global

Global observational long-term study collecting information from adult and pediatric patients with LC-FAOD

Enrolment: Recruiting now

Study Site: Multi-USA site; Canada: SickKids Hospital, Toronto

Details: 300 patients, child, adult and older adults with a confirmed diagnosis of any LC-FAOD sub-type.

Sponsor: Ultragenyx

NuPower Study | Elampretide in PMD with nDNA Mutations, USA

Phase 3 randomized, double-blind trial evaluating the efficacy and safety of daily subcutaneous injections of Elamipretide in PMD w/nDNA mutations

Enrolment: Recruiting now

Study Site: Multi-USA site; Canadian recruits welcome

Details: 18-70 yrs, genetic confirmation of nDNA mutation

Sponsor: Stealth BioTherapeutics Inc