MitoCanada is committed to curating an active list of clinical trials important to patients and mitochondrial disease research.
Survey Study | Adults living with MCADD or caregivers of individuals living with MCADD
This study aims to better understand the experiences of adult patients living with MCADD and caregivers of pediatric patients living with MCADD
Enrolment: Recruiting now
Who may qualify:
- Patients located in the US and Canada
- Adult patients (i.e. over the age of majority where they live) with a confirmed diagnosis of MCADD or legal guardians/primary caregivers of a pediatric patient (i.e. younger than the age of majority where they live) living with MCADD
- Participants able to read, write, and comfortably communicate in English
- Participants willing and able to participate in a 30-minute online survey
- Participants able to describe age the formal MCADD diagnosis was made
- Participants able to describe what event(s) led to a formal MCADD diagnosis
- Participants able to describe the speciality of the physician who provided a formal MCADD diagnosis
- If needed, participants able to participate in a phone screening to answer additional questions regarding their diagnostic journey or the diagnostic journey of the person living with MCADD
Who may not qualify:
- Participants unable to understand the nature, scope, and consequences of the survey study and presents evidence of an uncooperative attitude
- Caregiver participant is paid to provide care for the person living with MCADD
Compensation: $50 for completion of survey.
INTERESTED? Complete the screening form to determine eligibility: Screening Form Link
CONTACT: For questions, call: 617-612-4054 or email: mcadd@lumanity.com
SPONSOR: Ultragenyx
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
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
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
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
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
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
