Coenzyme Q10 for Royer Syndrome

Phase-Based Estimates
1
Effectiveness
2
Safety
The Hospital for Sick Children, Toronto, Canada
+1 More
Coenzyme Q10 - DietarySupplement
Eligibility
< 65
All Sexes
Eligible conditions
Royer Syndrome

Study Summary

Mitochondrial Complex I Dysfunction in PWS

See full description

Eligible Conditions

  • Royer Syndrome
  • Syndrome
  • Prader-Willi Syndrome

Treatment Effectiveness

Effectiveness Estimate

1 of 3

Compared to trials

Study Objectives

This trial is evaluating whether Coenzyme Q10 will improve 1 primary outcome, 9 secondary outcomes, and 3 other outcomes in patients with Royer Syndrome. Measurement will happen over the course of Baseline, week 8 (after 6 weeks on study drug or placebo), [6 week washout], week 20 (after 6 weeks study drug or placebo).

Week 20
6 Minute walk test
Childhood Health Assessment Questionnaire (CHAQ)
Hand Grip Test
Montreal Cognitive Assessment (MOCA)
Pediatric Quality of Life (PedsQL) Multidimensional Fatigue Scale
Pediatric Quality of Life Index (PedQL)
SWAN Rating Scale for Attention Deficit Hyperactivity Disorder (ADHD)
Three Day Physical Activity Record (3DPAR)
Three minute step test
Vertical Jump Test
Week 20
31-phosphorus magnetic resonance spectroscopy (MRS) ergometry
Maximal Aerobic Capacity (Oxygen Uptake (VO2) in milliliters per kilogram body weight per minute)from incremental cycle ergometry
Maximal Work (measured in watts ) from incremental cycle ergometry

Trial Safety

Safety Estimate

2 of 3
This is better than 68% of similar trials

Compared to trials

Trial Design

2 Treatment Groups

Placebo
Coenzyme Q
Placebo group

This trial requires 14 total participants across 2 different treatment groups

This trial involves 2 different treatments. Coenzyme Q10 is the primary treatment being studied. Participants will all receive the same treatment. Some patients will receive a placebo treatment. The treatments being tested are in Phase 2 and have already been tested with other people.

Coenzyme Q
DietarySupplement
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).
Placebo
Other
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).
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Coenzyme Q10
2016
Completed Phase 4
~1190

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: week 8 (after 6 weeks on study drug or placebo), [6 week washout], week 20 (after 6 weeks study drug or placebo)
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly week 8 (after 6 weeks on study drug or placebo), [6 week washout], week 20 (after 6 weeks study drug or placebo) for reporting.

Who is running the study

Principal Investigator
I. T.
Ingrid Tein, Director, Neurometabolic Clinic, Staff Neurologist, Division of Neurology, Principal Investigator, Senior Associate Scientist, Genetics and Genome Biology Program
The Hospital for Sick Children

Closest Location

The Hospital for Sick Children - Toronto, Canada

Eligibility Criteria

This trial is for patients born any sex aged 65 and younger. There are 8 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
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

Patient Q&A Section

Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What are the signs of royer syndrome?

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Symptoms and signs of royer syndrome include low birth weight, low head circumference and delayed intellectual development. Many of these signs of royer syndrome occur earlier in life, and with this illness, the life expectancy is usually shorter and the patients have a higher likelihood of being institutionalized.\n

Unverified Answer

What is royer syndrome?

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Prenatal testing for NBS was implemented in 2005 with the introduction of prenatal testing for CMT. We demonstrate that, in those pregnancies wherein prenatal testing is done in a NBS laboratory, the presence of NBS may be ascertained on the basis of clinical presentation with an additional confirmation of the NBS phenotype with genotyping. Prenatal testing for the syndrome results in substantial savings for affected families, as it is both accurate and available.

Unverified Answer

What are common treatments for royer syndrome?

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Treatment for RO patients relies on the type and severity of their specific presentation. Most patients are treated with conservative therapies such as observation, supportive care, lifestyle changes, and avoidance of medications. Rarely, some patients require intensive medical management, including inpatient hospitalization.

Unverified Answer

Can royer syndrome be cured?

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Patients with RoS can have a substantial reduction in their seizures and can regain normal daily functioning. Patients with RoS should be followed for the long term.

Unverified Answer

How many people get royer syndrome a year in the United States?

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At this time, royer syndrome is uncommon in the United States, having been reported in about 50 cases since 1994. But although its appearance appears sporadic, it could be more common than some experts believe. Royer syndrome is an autosomal recessive condition. Genetic counseling may be appropriate for some families.

Unverified Answer

What causes royer syndrome?

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Inappropriate VEGF/VEGF, VEGFR and FGFR1 expression, with subsequent inappropriate PI3K-AKT-mTORC2 and/or mTOR-S6K1 signalling pathways. These events can induce RLS-like phenotypes in mice and mice lacking VEGFR-1, RASGAP1 and GATA1 exhibited similar phenotypes to patients with PWS, RLS and/or macrocephaly syndrome due to HSCX1 mutations.

Unverified Answer

What is the average age someone gets royer syndrome?

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Most patients are seen in their 40s. There seem to be more females than males in the royer syndrome population, perhaps due to being diagnosed before birth.

Unverified Answer

Does royer syndrome run in families?

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Although patients with RoS frequently live with their parents, genetic inheritance of their disease does not run in RoS families. Given that RoS is an autosomal dominant form of diabetes, this suggests that RoS is not recessively inherited but rather that RoS is a new entity.

Unverified Answer

Is coenzyme q10 typically used in combination with any other treatments?

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The most effective coenzyme Q10 regimen for RLS was not well defined. In general, coenzyme Q10 seems to work best when combined with other treatments with the goal of reducing the frequency and severity of RLS symptoms. These benefits are not known for all treatments. For many patients the side effects can make coenzyme Q10 difficult to take.

Unverified Answer

What are the common side effects of coenzyme q10?

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This preliminary prospective study indicates that side effects are rare. However, as with any other drug, side effects which occur more frequently in the course of the treatment than the natural history have to be reported to clinicians.

Unverified Answer

What are the latest developments in coenzyme q10 for therapeutic use?

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Coenzyme Q10 supplementation is effective in preventing progression of coronary artery disease to myocardial infarction, and is safe and well tolerated at low dosages. Results from a recent paper of this large, placebo-controlled, triple-blind trial warrant further investigations of supplemental coenzyme Q10 as a therapy for atherosclerosis and diabetes mellitus.

Unverified Answer

How does coenzyme q10 work?

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The mechanism of action by which CoQ works in clinical settings is still unclear. The current understanding of CoQ's multifunctional nature and its important role in redox signaling makes it plausible that CoQ10 treatment might improve disease outcomes associated with impaired oxidative homeostasis.

Unverified Answer
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