Study on the Safety and Effects of ION582 for Patients with Angelman Syndrome

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What is this study about?

This clinical trial is focused on studying Angelman syndrome, a rare genetic disorder that affects the nervous system and causes developmental disabilities and neurological problems. The study will use a treatment called ION582, which is an injection designed to target specific genetic material in the body. The treatment involves a type of medication known as an antisense oligonucleotide, which is a small piece of DNA or RNA that can bind to specific molecules in the body to alter their function.

The purpose of the study is to evaluate the safety and tolerability of ION582 when administered through injections into the spinal fluid, a method known as intrathecal use. Participants will receive multiple doses of the medication, and researchers will monitor them for any side effects or changes in their health. The study will also look at how the body processes the medication, including how long it stays in the bloodstream and how it is eliminated from the body.

Throughout the study, participants will undergo regular health checks, including monitoring of vital signs and laboratory tests, to ensure their safety. The study aims to gather important information about the potential benefits and risks of ION582 for individuals with Angelman syndrome, which could lead to new treatment options in the future.

1 initial assessment

Upon joining the study, an initial assessment is conducted to confirm the diagnosis of Angelman syndrome. This involves reviewing medical history and ensuring the participant meets the inclusion criteria, such as age and current treatment stability.

2 baseline evaluation

A baseline evaluation is performed to gather initial health data. This includes measuring vital signs and conducting laboratory tests to establish a reference point for future assessments.

3 first dose administration

The first dose of ION582 is administered via intrathecal injection. This means the medication is injected into the space around the spinal cord. The dosage is determined based on the study protocol.

4 monitoring and follow-up

After the first dose, monitoring is conducted to observe any immediate effects. This includes checking for adverse reactions and changes in vital signs. Follow-up visits are scheduled to continue monitoring the participant’s response to the medication.

5 subsequent dose administrations

Additional doses of ION582 are administered at specified intervals. The frequency and dosage may vary as the study progresses, following the protocol’s guidelines for ascending dose levels.

6 ongoing assessments

Throughout the trial, regular assessments are conducted to evaluate the safety and tolerability of the medication. This includes monitoring for any adverse events and conducting laboratory tests to track changes in health parameters.

7 final evaluation

At the end of the trial, a final evaluation is performed. This includes a comprehensive review of the participant’s health status and any changes observed during the study. The data collected will contribute to understanding the effects of ION582 in treating Angelman syndrome.

Who Can Join the Study?

The participant must have a documented and certified diagnosis of Angelman syndrome. This means they have a specific genetic condition involving a deletion or mutation in a gene called UBE3A.
The participant can be a male or female between the ages of 2 and 50 years old. A parent or legal guardian must provide signed informed consent for participation.
The participant should be currently receiving stable standard treatments for at least 3 months before the first dose. This includes stable doses of medications for seizures, behavior, sleep, and other supportive treatments like special diets or supplements.
The participant must agree to follow good study practices, which include not sharing personal or study information on social media platforms like Facebook, Instagram, Twitter, or YouTube until the study is completed.
Other specific criteria defined by the study protocol may also apply.

Who Cannot Join the Study?

Patients who do not have a confirmed diagnosis of Angelman syndrome cannot participate. Angelman syndrome is a genetic disorder that affects the nervous system and causes developmental disabilities and neurological problems.
Patients who are not within the specified age range for the study cannot participate. The study is open to certain age groups only.
Patients who are not able to safely undergo the study procedures, such as the administration of the study drug, cannot participate.
Patients who have other medical conditions that might interfere with the study or increase risk cannot participate.
Patients who are pregnant or breastfeeding cannot participate, as the study may pose risks to the baby.
Patients who are currently participating in another clinical trial cannot participate, as this could affect the study results.
Patients who have a history of allergic reactions to similar medications cannot participate, to avoid potential health risks.
Patients who are unable to comply with the study requirements, such as attending scheduled visits, cannot participate.

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name	City	Country	Status
Hopital Necker Enfants Malades	Paris	France

Other Sites

Site Name	City	Country	Status
Universita’ Di Pisa	Pisa	Italy

Trial status

Country	Status	Recruitment Start
France	Recruiting	30.12.2021
Italy	Recruiting	30.12.2021

Trial locations

Investigated drugs:

2'-O-(2-Methoxyethyl) Modified Antisense Oligonucleotide Targeting Ube3A Antisense Transcript Rna

ION582 is a medication being studied for its safety and tolerability in patients with Angelman Syndrome. It is administered directly into the spinal fluid through a procedure called intrathecal injection. The study aims to understand how the body processes the medication and its effects on the body, focusing on any side effects or changes in health indicators.

Investigated diseases:

Angelman's syndrome

Angelman syndrome – Angelman syndrome is a genetic disorder that primarily affects the nervous system. It is characterized by developmental delays, intellectual disability, severe speech impairment, and problems with movement and balance. Individuals with this condition often exhibit a happy demeanor, frequent smiling, and laughter. The syndrome is caused by a loss of function of a gene on chromosome 15. Symptoms typically become noticeable in early childhood, and while they do not worsen over time, they can affect various aspects of daily life. The condition is considered rare and is usually diagnosed based on clinical features and genetic testing.

Trial ID:

2024-512589-32-00

Protocol code:

ION582CS1

NCT ID:

NCT05127226

Trial Phase:

Phase I and Phase II (Integrated) – First administration to humans

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Study on the Safety and Effects of ION582 for Patients with Angelman Syndrome

What is this study about?

Who Can Join the Study?

Who Cannot Join the Study?