Mitochondrial Complex I Dysfunction in PWS
Prader-Willi Syndrome
About this trial
This is an interventional treatment trial for Prader-Willi Syndrome focused on measuring CoQ10, muscle function, attention span, quality of life
Eligibility Criteria
Inclusion Criteria:
- Consent provided
- patients with genetically confirmed PWS aged 13 to 18 years (n=14)
- ability to cooperate with exercise testing
- weight > 35.0 kg
- in good general health as evidenced by medical history
- able to take oral medications
- for females of reproductive potential, use of highly effective contraception for at least 1 month prior to screening and agreement to use such a method during study participation and for an additional 8 weeks after the end of study intervention administration
- for males of reproductive potential: use of condoms or other methods to ensure effective contraception with partner during study participation and for an additional 8 weeks after the end of study intervention administration
Exclusion Criteria:
- unable to perform exercise tests,
- already taking CoQ10
- having liver disease or bile duct blockage,
- having thyroid disease or taking thyroid medications
- presence of diabetes
- taking antiarrhythmics or antihypertensives or anti-failure medications
- presence of gastric disorders
- presence of skin disorders
- pregnancy or lactation
- lactose intolerance
- known allergic reaction to CoQ10 or components of preparation.
- treatment with another investigational drug or other intervention
- current smoker or tobacco use within 6 months
- current cannabis user or use within 6 months
- presence of chronic respiratory disease other than asthma
- presence of cardiac disease with cardiac insufficiency/CHF
- presence of MR-incompatible metal in body, metal devices or tattoos
- presence of a bleeding disorder
- gelatin intolerance
- clinically significant findings in laboratory tests at screening
Sites / Locations
- The Hospital for Sick Children
Arms of the Study
Arm 1
Arm 2
Experimental
Placebo Comparator
Coenzyme Q
Placebo
Each patient will be asked to take part in a 6 wk trial of pharmaceutical grade CoQ10 and will be randomly assigned to a start time. There will be a 6 wk washout period between treatment and placebo arms. At baseline, if this is the first arm, testing will include determination of muscle function based on our 3 min step test, muscle power (maximal jump, handgrip), strength (Queens' Square), endurance (6MWT), fatigue (PedsQL fatigue scale), physical activity level (3DPAR), attention (ADHDT scale), cognition (MoCA), physical function (CHAQ).and quality of life (PedQL). Following the 6 wk CoQ10 trial, testing will include repeat determination of all of the above as well as determination of total aerobic capacity (maximum cycle ergometry) and muscle metabolism (31P-MRS ergometry).
Each patient will be asked to take part in a 6 wk trial of placebo and will be randomly assigned to a start time. There will be a 6 wk washout period between treatment and placebo arms. At baseline, if this is the first arm, testing will include determination of muscle function based on our 3 min step test, muscle power (maximal jump, handgrip), strength (Queens' Square), endurance (6MWT), fatigue (PedsQL fatigue scale), physical activity level (3DPAR), attention (ADHDT scale), cognition (MoCA), physical function (CHAQ).and quality of life (PedQL). Following the 6 wk placebo trial, testing will include repeat determination of all of the above as well as determination of total aerobic capacity (maximum cycle ergometry) and muscle metabolism (31P-MRS ergometry).