Ongoing Clinical Trials for Angelman Syndrome
There are currently 4 clinical trials investigating new treatments for Angelman Syndrome, a rare genetic disorder affecting the nervous system. These studies are testing experimental medications designed to address the underlying genetic causes of the condition and improve developmental outcomes. Trials are taking place across several European countries including Spain, Germany, France, Italy, Netherlands, and Poland.
Clinical trial locations
- France
- Germany
- Italy
- Netherlands
- Poland
- Spain
Study on the Long-Term Safety of GTX-102 for Patients with Angelman Syndrome
This trial focuses on evaluating the long-term safety of GTX-102, an antisense oligonucleotide medication designed to target specific genetic material in the body. The treatment is delivered through intrathecal injection, meaning it is injected directly into the spinal fluid.
Main inclusion criteria: Participants must have previously taken part in a clinical trial with GTX-102 and completed the loading phase of that study. The screening visit for this long-term extension must occur within 6 months of the last visit in the prior study. Parents or legal guardians must sign informed consent. Female participants of childbearing age who are sexually active must use highly effective birth control from enrollment until at least 6 months after the last dose. Male participants must either abstain from sexual intercourse or use acceptable birth control during the study and for at least 3 months after the last dose.
Main exclusion criteria: Patients with a history of severe allergic reactions to the study medication cannot participate. Those currently enrolled in another clinical trial are excluded. Patients with medical conditions that study doctors believe would make participation unsafe are not eligible. Additional exclusions include inability to follow study procedures, pregnancy or breastfeeding, substance abuse history that could interfere with the study, serious mental health conditions, major surgery within the last 3 months, infections requiring antibiotic treatment, and certain heart conditions.
Study focus: The primary objective is to evaluate the long-term safety profile of GTX-102. This includes monitoring treatment-emergent adverse events, their frequency, severity, and relationship to the investigational product. Secondary assessments measure changes in developmental scores, including cognition, communication, and motor skills. The trial is expected to conclude in October 2029.
Study on the Safety and Effects of ION582 for Patients with Angelman Syndrome
This study examines ION582, another antisense oligonucleotide medication administered through intrathecal injection. The trial aims to assess both safety and tolerability of this treatment approach.
Main inclusion criteria: Participants must have a documented and certified diagnosis with a specific genetic deletion or mutation in the UBE3A gene. Males and females between ages 2 and 50 are eligible. Participants should be receiving stable standard treatments for at least 3 months before the first dose, including medications for seizures, behavior, and sleep, as well as supportive treatments like special diets or supplements. Parents or legal guardians must provide signed informed consent. Participants must agree to follow good study practices, including not sharing personal or study information on social media until the study is completed.
Main exclusion criteria: Patients without a confirmed diagnosis cannot participate. Those outside the specified age range or unable to safely undergo study procedures are excluded. Patients with other medical conditions that might interfere with the study or increase risk are not eligible. Pregnant or breastfeeding women cannot participate. Those currently enrolled in another clinical trial are excluded, as are patients with a history of allergic reactions to similar medications or inability to comply with study requirements such as attending scheduled visits.
Study focus: The primary goal is to evaluate safety and tolerability when administering multiple doses of ION582. Researchers will monitor participants for side effects and changes in health, including how the body processes the medication and how long it stays in the bloodstream. Regular health checks include vital sign monitoring and laboratory tests throughout the study period.
Study on the Effects of GTX-102 for Children with Angelman Syndrome
This trial investigates whether GTX-102 can improve cognitive function in children with Angelman Syndrome. The medication is administered via intrathecal injection into the space around the spinal cord.
Main inclusion criteria: Children must be males or females aged 4 to less than 18 years old at the time of informed consent. They must have a confirmed diagnosis with genetic confirmation of full maternal UBE3A gene deletion in the region of 15q11.2-q13. Participants must be able to walk independently or with assistance at the screening visit; children who primarily use a wheelchair are not eligible. Blood clotting test results must be within 1.5 times normal limits. Participants must be willing and able to attend scheduled visits, follow the treatment plan, undergo lumbar punctures, and tolerate anesthesia without needing a breathing tube. Female participants of childbearing age must use highly effective birth control or abstain from sex from informed consent through at least 6 months after the final dose. Males must agree to abstain from heterosexual intercourse or use acceptable birth control during the study and for at least 3 months after the final dose.
Main exclusion criteria: Participants without a diagnosis cannot join. Those outside the specified age range or unable to follow study procedures are excluded. Patients with other medical conditions that might interfere with study results, those currently taking medications that might affect outcomes, and those with a history of allergic reactions to the study medication or similar medications cannot participate. Pregnant or breastfeeding participants and those involved in another clinical trial simultaneously are not eligible.
Study focus: The trial aims to determine how effectively GTX-102 improves cognitive abilities in children. Researchers will conduct baseline evaluations to establish reference points, then monitor participants regularly to assess treatment effects. Changes in cognitive function and other health indicators will be measured at specified intervals, with a final assessment comparing results to baseline measurements. Follow-up continues for a specified period after the final dose to monitor long-term effects.
Study on the Safety and Tolerability of Rugonersen in Patients with Angelman Syndrome
This trial studies Rugonersen, also known as RO7248824, a medication administered through intratracheal use, which involves delivering the medication directly into the windpipe. The study focuses on understanding safety and tolerability.
Main inclusion criteria: Participants must have a parent, caregiver, or legal representative who is at least 18 years old, reliable, and competent. This person should be willing to accompany the participant to clinic visits, be available by phone or email, and be knowledgeable about the participant’s condition to answer study team questions. Participants must have a clinical diagnosis confirmed by molecular diagnosis, including either a UBE3A mutation on the maternal allele or a deletion on the maternally inherited chromosome 15q11-q13 that includes the UBE3A gene and is less than 7 megabases in size. Participants should have stable medical status for at least 4 weeks before screening and at enrollment. They must have adequate supportive psychosocial circumstances and be able to tolerate blood draws.
Main exclusion criteria: Patients without the condition cannot participate. Those outside the specified age range or unwilling to follow study procedures are excluded. Patients with other medical conditions that might interfere with the study, those who are pregnant or breastfeeding, and those who recently participated in another clinical trial are not eligible. Patients with a history of allergic reactions to similar medications or unable to provide informed consent cannot participate.
Study focus: The trial monitors safety and tolerability by closely tracking adverse events, both minor and serious. Regular clinic visits include checking vital signs such as temperature, blood pressure, heart rate, and respiratory rate. Blood and cerebrospinal fluid samples are taken to assess changes in the body. The study team will adjust treatment or discontinue it if necessary for participant safety. The trial is expected to conclude by July 2025.
Summary
All four ongoing clinical trials for Angelman Syndrome are investigating antisense oligonucleotide medications, representing a focused therapeutic approach targeting the genetic causes of this disorder. Two of the trials specifically study GTX-102 at different stages, with one focusing on long-term safety for patients who have already received the treatment and another examining its effects on cognitive function in children.
The trials are concentrated in Western European countries, with Spain hosting three trials, making it the most active location. The Netherlands, Germany, and Italy each host multiple trials, while France and Poland each participate in trials as well. This geographical concentration suggests strong research infrastructure and expertise in rare genetic disorders in these regions.
All trials share a common requirement for genetic confirmation of the diagnosis, specifically involving the UBE3A gene. Most studies use intrathecal injection, delivering medication directly into the spinal fluid, except for the Rugonersen trial which uses intratracheal administration. The age ranges vary considerably, from young children (as young as 2 years) to adults (up to 50 years), reflecting different research questions and stages of treatment development.
These trials represent important steps in developing targeted therapies for Angelman Syndrome, moving beyond symptom management to address the underlying genetic causes of the condition.
