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).
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.
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
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.