CLINICAL TRIAL

Medical Air vs Oxygen for Royer Syndrome

Recruiting · < 18 · All Sexes · Toronto, Canada

This study is evaluating whether medical air or oxygen will be more effective in treating central sleep apnea in infants with Prader-Willi Syndrome.

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About the trial for Royer Syndrome

Eligible Conditions
Sleep Apnea, Central · Sleep Apnea Syndromes · Syndrome · Prader-Willi Syndrome

Treatment Groups

This trial involves 2 different treatments. Medical Air Vs Oxygen is the primary treatment being studied. Participants will be divided into 2 treatment groups. There is no placebo group. The treatments being tested are in Phase 4 and have been shown to be safe and effective in humans.

Experimental Group 1
Medical Air vs Oxygen
BIOLOGICAL
Experimental Group 2
Medical Air vs Oxygen
BIOLOGICAL

Eligibility

This trial is for patients born any sex aged 18 and younger. There are 3 eligibility criteria to participate in this trial as listed below.

Inclusion & Exclusion Checklist
Mark “yes” if the following statements are true for you:
The person was referred to a sleep clinic so that they could be evaluated for polysomnography before starting growth hormone. show original
events per hour, were more likely to experience adverse outcomes at 1 year of age, such as neurologic problems, low oxygen saturation levels, and feeding difficulty Infants who are found to have clinically significant central sleep apnea are more likely to experience adverse outcomes such as neurologic problems, low oxygen saturation levels, and feeding difficulty by their first birthday. show original
Children who are younger than two years old and have been genetically confirmed to have Prader-Willi Syndrome. show original
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Odds of Eligibility
Unknown<50%
Be sure to apply to 2-3 other trials, as you have a low likelihood of qualifying for this one.Apply To This Trial

Approximate Timelines

Please note that timelines for treatment and screening will vary by patient
Screening: ~3 weeks
Treatment: varies
Reporting: 2 years
Screening: ~3 weeks
Treatment: Varies
Reporting: 2 years
This trial has approximate timelines as follows: 3 weeks for initial screening, variable treatment timelines, and reporting: 2 years.
View detailed reporting requirements
Trial Expert
Connect with the researchersHop on a 15 minute call & ask questions about:
- What options you have available- The pros & cons of this trial
- Whether you're likely to qualify- What the enrollment process looks like

Measurement Requirements

This trial is evaluating whether Medical Air vs Oxygen will improve 3 primary outcomes and 4 secondary outcomes in patients with Royer Syndrome. Measurement will happen over the course of 2 years.

Desaturation Index1
2 YEARS
Difference in Desaturation Index at baseline compared to medical air Delta Arousal Index: Desaturation Indexmedical air - Desaturation Indexbaseline
2 YEARS
Delta CAHI2
2 YEARS
Difference in CAHI at baseline compared to medical air Delta CAHI2: CAHImedical air - CAHIbaseline
2 YEARS
Arousal Index2
2 YEARS
Difference in Arousal Index at baseline compared to Supplemental oxygen Delta Arousal Index: Arousal Indexoxygen - Arousal Indexbaseline
2 YEARS
Difference in CAHI1 and CAHI2
2 YEARS
A comparison of change in CAHI1 and change in CAHI2 DeltaCAHI1: DeltaCAHI2
2 YEARS
Arousal Index1
2 YEARS
Difference in Arousal Index at baseline compared to medical air Delta Arousal Index: Arousal Indexmedical air - Arousal Indexbaseline
2 YEARS
Delta CAHI1
2 YEARS
Difference in CAHI at baseline compared to supplemental oxygen Delta CAHI1: CAHIoxygen - CAHIbaseline
2 YEARS
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Who is running the study

Principal Investigator
R. A.
Reshma Amin, Respirologist, Clinician Investigator
The Hospital for Sick Children

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 common treatments for royer syndrome?

In the absence of other anomalies, it is unlikely that treatment of other congenital anomalies of the musculoskeletal system, such as hypoplastic hip dislocation, hip or pectus carinatum, rib aplasia, sternal deformities, and scoliosis, will be required. Nevertheless, as the symptoms are associated with significant functional limitation, appropriate intervention may facilitate a less restricted lifestyle but not necessarily avoid functional impairment.

Anonymous Patient Answer

What are the signs of royer syndrome?

Symptoms of RoS may present in a variety of ways but often in a sequential fashion, reflecting the complex nature of the pathology that underlies this disease. For example, symptoms of hepatic failure may first appear in infancy and slowly progress to liver insufficiency and then encephalopathy. The clinical features of this disease, which have become well recognised and which may be considered as clinical diagnostic criteria, may vary depending on the duration of the syndrome's presentation and the degree of hepatic damage present at presentation.

Anonymous Patient Answer

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

The lifetime prevalence of Roberts syndrome is 1 in 30,000 births. This is similar to the lifetime prevalence of Roberts syndrome from the United Kingdom and France.

Anonymous Patient Answer

What is royer syndrome?

Most patients with this rare defect do not have any major symptoms. They are, however, at the risk of bleeding disorders. The syndrome is commonly detected on the basis of the presence of a craniofacial projection in an affected individual, although it can also be recognized before birth by the presence of a cleft palate. Treatment of Royer's may include surgery to close the defects. The syndrome was first described at the Royal Victoria General Hospital of Montreal in 1968. The defect is named after the discoverer of the disorder, Dr.

Anonymous Patient Answer

What causes royer syndrome?

Results from a recent clinical trial suggest that, like other congenital conditions with an unknown cause, the cause of royer syndrome may be a single gene, or a set of tightly linked genes.

Anonymous Patient Answer

Can royer syndrome be cured?

The absence of signs of mental retardation in our patients with RTS suggests that intellectual disability is not required for diagnosis. However, in light of recent studies, it seems prudent to consider a possibility of inborn errors of metabolism in all patients presenting with intellectual disability.

Anonymous Patient Answer

Is medical air vs oxygen typically used in combination with any other treatments?

Medical air with or without oxygen is commonly used in combination with other therapeutic interventions for patients with respiratory failure, regardless of their underlying causes. Further studies are required to determine the impact of this variable on outcomes.

Anonymous Patient Answer

Does royer syndrome run in families?

We have provided the first population-based genetic study of RYO syndrome, and have reported on a family that would most likely be found in a first-degree relative study. The likelihood that a mutation predisposing to RYO syndrome exists is substantial (0.6%, 0.07%, or 0%). Even if this likelihood is low (7%), at least 4 of those known have a first-degree relative with RYO syndrome.

Anonymous Patient Answer

What are the latest developments in medical air vs oxygen for therapeutic use?

There is no need for 100% oxygen when administering air embolisms. This is because air embolization is a short term way to treat pulmonary hypertension before a definitive treatment such as pulmonary thromboendarterectomy (PTE) is offered. This is because both PTE and pulmonary thromboendarterectomy are definitive treatments for pulmonary hypertension. A PTE is an elective surgery. If there is no PTE available then it is urgent and in these situations, pulmonary thromboendarterectomy can be considered in an urgent manner, especially in the case of high pulmonary artery pressures.

Anonymous Patient Answer

What is the latest research for royer syndrome?

Because rody syndrome is rare, there are very few research studies being conducted. The research findings still have not been found to be clinically useful in other types of conditions. The authors do not recommend a specific treatment strategy for any individual who meets the diagnostic criteria for RoRy syndrome because the severity and progress in the phenotype of this disease is variable. More research could potentially be useful in many different research fields and the authors conclude that more research is needed in order to provide further information concerning the development of future therapy.

Anonymous Patient Answer

What are the common side effects of medical air vs oxygen?

Oxygen is not without side effects. Breathing medical air has the potential to cause more than 600 different side effects, but when it's properly adjusted, breathing medical air does not cause nearly as many side effects as breathing pure oxygen. For example, breathing oxygen in and out of the nose or mouth does not cause the irritation of the nose or mouth that breathing pure oxygen causes, but breathing medical air does. Breathing medical air may also damage the teeth, eyes, or lungs, or cause headaches, dizziness, confusion or lightheadedness, nausea, shortness of breath, chest tightness, or heart palpitations.

Anonymous Patient Answer

Does medical air vs oxygen improve quality of life for those with royer syndrome?

Medical air versus oxygen does not improve QOL, time to progression or survival for royer syndrome. In a recent study, findings has major limitations in its small size and limited follow up. Prospective, larger studies are needed to confirm these results.

Anonymous Patient Answer
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