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Angelman syndrome is a rare genetic condition involving the loss of function of an important gene (UBE3A). This results in severe symptoms that may include:
Symptoms of Angelman syndrome can prove to be a challenge that requires ongoing care throughout the individual’s entire lifespan.
The REVEAL study is a Phase 3 clinical trial being conducted by Ionis to evaluate the company's investigational drug, ION582, in individuals with Angelman syndrome, aged 2 to 50 years old with either UBE3A deletion or UBE3A mutation. Individuals cannot have previous treatment with an oligonucleotide (including small interfering RNA [siRNA], ASOs) or gene therapy. Other criteria may also apply.
Expert physicians and researchers, in collaboration with the Angelman community, have designed this study to evaluate the safety and efficacy of ION582 in treating children and adults with Angelman syndrome as compared to placebo (which contains no active ingredients but looks the same as the study drug). The REVEAL trial will also evaluate ION582’s impact on communication, intellectual ability, motor skills, seizures, and sleep, among other important factors.
Only individuals who meet the specific criteria may participate in this clinical study. Other criteria may apply, for more information on the inclusion and exclusion criteria for this trial, please speak with a study doctor.
ION582 is an investigational drug developed by Ionis being studied as a potential treatment for Angelman syndrome. Currently, there are no approved therapies that address the underlying cause of Angelman syndrome. However, certain therapies are used to treat some of the symptoms that people with Angelman syndrome experience, such as seizure and sleep medications. Speech therapy, occupational therapy, and physical therapy are also used to treat disease manifestations and improve quality of life in some people living with Angelman syndrome.
Participants will be randomly assigned to receive either 40mg of ION582, 80mg of ION582, or placebo during the 60-week double-blind (DB) placebo-controlled treatment period. Double-blind means that neither the patient, parent/Legally Authorized Representative/guardian, nor the study doctor will know which assignment the patient is randomized to. This reduces bias in results by allowing researchers to distinguish between treatment effects related to ION582 versus placebo effects. In case of an emergency, however, the study doctor can find out quickly whether the study drug or placebo was given to the study participant.
All participants completing the DB treatment period will be eligible to transition into the long-term extension (LTE) treatment period, where they will receive nine (9) doses of ION582 over a period of 100 weeks (approximately 23 months). During the LTE, all participants will receive 40mg or 80mg of ION582.
“Investigational drug” means that ION582 is currently being tested and is not approved for sale by regulatory agencies like the U.S. Food and Drug Administration (FDA). Since ION582 is not approved by regulatory agencies, it is considered investigational and only allowed to be used in clinical studies like the REVEAL study. ION582 is currently being studied in a global Phase 1/2a study called HALOS in 55 people living with Angelman syndrome. The REVEAL study was designed based on data from HALOS.
Participation in the REVEAL study lasts about four (4) years and involves the following:
Participation in a clinical study is voluntary. The parent, guardian or legally authorized representative (LAR) may withdraw consent and remove the participant from the study at any time, for any reason.
Visit Angelman Syndrome Foundation’s page to learn more about navigating a recent diagnosis of Angelman syndrome.
Newly diagnosed?Here are some common questions and answers about study participation.
Clinical trials help doctors and researchers explore whether a medical approach, device, or study drug is safe and effective for people. They are carefully designed, reviewed and need to be approved before they can start. Before any study drug can be approved and made available to the public, it must go through several phases of clinical research.
For more information on clinical trials and the different phases of research, speak with your doctor or visit ClinicalTrials.gov.
Informed consent is a process which starts when the study doctor explains, in detail, the purpose, procedures, potential benefits, risks, and discomforts of the clinical study. It also includes a written document called the Informed Consent Form (ICF). This form contains what was explained to you and is yours to keep and refer to. This process ensures you, as the parent/guardian/Legally Authorized Representative, have a chance to ask questions and gain a clear understanding of the clinical study. If you decide to allow the individual in your care to participate in this clinical trial, you will be asked to sign an ICF.
Participation in a clinical study usually involves visiting a clinic regularly, having assessments to monitor your health and undergoing procedures. By participating in a clinical study, you help contribute to medical research, potentially benefiting future patients, but it’s important to fully understand what’s involved and weigh the risks and benefits before agreeing. Study participants can still see their regular doctor while participating on the study.
Participation in clinical research studies is always voluntary, and participants may be withdrawn by their parent/LAR/guardian at any time and for any reason.