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A Phase 3 study to evaluate the efficacy and safety of ION582 in children and adults with Angelman syndrome

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What is this study about?

This study aims to evaluate the efficacy and safety of ION582 in children and adults with Angelman syndrome. This condition is a rare genetic disorder typically caused by a deletion, which is a missing piece of genetic material, or a mutation, which is a change in the DNA sequence, of the UBE3A gene. The study focuses on how this specific genetic change affects the body and brain.

The treatment being investigated is ION582, which is a type of antisense oligonucleotide. This is a specialized substance designed to target and interact with specific parts of genetic instructions to help manage the effects of the disease. The medication will be delivered through an intrathecal injection, which is a method where the medicine is injected into the fluid surrounding the brain and spinal cord.

During the study, participants will receive the medication and undergo regular follow-up periods to monitor how they are doing. The duration of the observation for participants is approximately 52 weeks. This process allows for the monitoring of various aspects of health and development over time.

Who Can Join the Study?

  • The person looking after the patient or their legally-authorized representative (someone allowed by law to make medical decisions for the patient) must provide written permission to join the study and follow all study rules.
  • The patient must be medically stable, meaning their health condition is steady and not changing rapidly, and they must be able to undergo sedation (medicine used to make a person sleepy or relaxed) or general anesthesia (medicine that puts a person into a deep sleep for a procedure) without needing a breathing tube placed down their throat, which is called intubation.
  • The participant can be male or female and must be between 2 and 50 years of age at the time of the first screening visit.
  • The participant must have a confirmed medical diagnosis of Angelman syndrome, which must be proven through molecular confirmation (testing the body’s genetic material) showing a deletion (a missing piece) or a mutation (a change) in the UBE3A gene.
  • The participant must have been taking their usual, steady doses of concomitant medications (other medicines being taken at the same time) for at least 8 weeks before the study begins. These may include anti-epileptic medications (medicine used to prevent seizures), medicines for behavior, sleep medicines, gabapentin, cannabidiol, or specific diets and nutritional supplements.
  • The caregiver or representative must agree not to share any of the participant’s private medical information or study details on any social media websites or platforms.

Who Cannot Join the Study?

  • You cannot participate if you have had major surgery within the last 3 months or if you have other health issues that would make it unsafe to use an antisense oligonucleotide (ASO), which is a type of medicine designed to change how certain genes work.
  • You cannot participate if you have a known disease of the brain or spine that would make a lumbar puncture (LP) unsafe; a lumbar puncture is a medical procedure where a needle is used to collect fluid from the area around the spinal cord.
  • You cannot participate if the study doctor believes you have any other health conditions that would make it difficult or unsafe for you to take part in or finish the study.
  • You cannot participate if your laboratory results (such as blood tests) or physical exams show health problems that the doctor believes make it unsuitable for you to join the study.
  • You cannot participate if you have previously received gene editing or treatments involving oligonucleotides, which are small pieces of genetic material used to affect gene activity; however, this does not include approved mRNA vaccines.
  • You cannot participate if your Angelman syndrome is caused by specific genetic patterns such as paternal uniparental disomy (where a child inherits two copies of a chromosome from the father and none from the mother), imprinting defects (problems with how genes are turned on or off), or mosaic findings (where some cells in the body have a different genetic makeup than others).

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name City Country Status
Associazione La Nostra Famiglia Conegliano Italy

Other Sites

Site Name City Country Status
Hospital Sant Joan De Deu Barcelona Esplugues De Llobregat Spain
Ospedale Pediatrico Bambino Gesu’ Rome Italy
Fondazione I.R.C.C.S. Istituto Neurologico Besta Milan Italy
Azienda Ospedaliero Universitaria Pisana Pisa Italy
Pjfj Tpniu Hmuowlvr Uohpgsujsasx Sabadell Spain
Kxsenetp dgj Ucorvwlmgikn Mipjbuqj Ady Munich Germany
Umapzhbybzpwht Cwnyshl Khhbqtioy Gdansk Poland

Want to learn more about this study or check if you can participate? Contact us.

Trial status

Country Status Recruitment Start
Germany Germany
Recruiting
31.03.2026
Italy Italy
Recruiting
31.03.2026
Poland Poland
Recruiting
31.03.2026
Spain Spain
Recruiting
31.03.2026

Trial locations

Investigated drugs:

ION582 is an experimental injection given directly into the fluid surrounding the spinal cord. This medication is designed to work with the body’s genetic instructions to help increase the activity of a specific protein that is missing or not working correctly in people with Angelman syndrome.

Angelman syndrome – This condition is a genetic disorder caused by a loss of function in a specific gene called UBE3A. It typically affects the development of the brain and nervous system. People with this condition often experience delays in reaching developmental milestones, such as sitting, walking, or talking. It is frequently characterized by significant challenges with communication and movement. Over time, the symptoms can impact various aspects of daily living and cognitive functions.

Trial ID:
2024-519711-33-01
Protocol code:
ION582-CS2
NCT ID:
NCT06914609
Trial Phase:
Therapeutic confirmatory (Phase III)

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