A Long-Term Extension Trial Investigating the Safety and Efficacy of GTX-102 in Patients with Angelman Syndrome
Angelman syndrome is a rare genetic condition that affects the nervous system. It can cause severe difficulties with speech, movement, balance, and learning. This Phase 3 trial is testing an experimental medicine named GTX-102. This is a long-term extension study. This means it follows participants who take the medicine over a longer period to see how they do over time. The main goal is to ensure the treatment remains safe and to monitor any side effects. The study also measures whether the medicine helps participants make progress in daily life. Doctors will check for improvements in communication, thinking skills, and both gross motor skills (like walking) and fine motor skills (like picking up small objects). Taking part helps researchers understand if GTX-102 could become an effective long-term treatment for Angelman syndrome in the future.
Em resumo
Sobre o que é este estudo?
Angelman syndrome is a rare genetic condition that affects how the brain and nervous system develop. People born with Angelman syndrome usually have severe learning disabilities, little or no speech, and trouble with balance and coordination. At present, there is no cure, and existing care focuses on managing symptoms like seizures and sleep issues.
This clinical trial is investigating an experimental medicine called GTX-102. The treatment aims to target the underlying genetic cause of the condition in the brain. Because this is a long-term extension study, it allows doctors to follow people over many months or years to see how the medicine works over extended periods.
During the trial, the medical team will watch closely for any side effects to ensure the treatment is as safe as possible. They will also use standard developmental tests to measure whether the medicine helps patients learn new words, interact better with others, and move around more easily.
By collecting this detailed information, researchers hope to find out whether GTX-102 can safely provide long-lasting benefits and improve the quality of life for people living with Angelman syndrome and their families.
Pontos principais
- Tests the long-term safety of the experimental drug GTX-102.
- Open to people of any age with Angelman syndrome who completed an earlier trial.
- Monitors improvements in communication, learning, walking, and hand movements.
- The medicine is given by injection into the spinal fluid at a specialist centre.
- Participation is entirely voluntary and you can withdraw at any time.
Quem pode ser elegível?
This trial is open to people of any age, both male and female, who have a confirmed diagnosis of Angelman syndrome.
Because this is an extension study, participants are usually people who have already taken part in an earlier trial of GTX-102. A doctor will check whether the person's current health allows them to continue receiving the treatment safely.
Participants must have a parent, family member, or carer who can accompany them to all clinic appointments, help with developmental assessments, and report any changes in health.
Este estudo pode ser adequado para você?
Responda a estas perguntas rápidas para ver se você pode ser elegível. Este é apenas um guia — a decisão final é da equipe de pesquisa.
- Diagnosed with Angelman syndrome.
- Previously took part in an earlier GTX-102 clinical trial.
- Any age (children and adults are eligible).
- Have a parent or carer who can attend hospital visits.
- Well enough to undergo spinal fluid injections safely.
O que envolve a participação?
Taking part involves regular visits to a specialist hospital clinic over an extended period. The study medicine, GTX-102, is given as an injection directly into the fluid around the spine (an intrathecal injection), similar to a lumbar puncture. During visits, the medical team will carry out health checks, monitor vital signs, take blood samples, and ask about any side effects. Specialists will also carry out gentle developmental assessments to track changes in thinking, speech, and movement skills. The study team will provide a clear calendar showing how often visits take place and what will happen at each stage.
Riscos e benefícios potenciais
Localizações (3)
- —Não verificadoFrança
- —Não verificadoEspanha
- —Não verificadoAlemanha
Perguntas frequentes
What is Angelman syndrome?
It is a rare genetic condition that affects the nervous system, leading to developmental delays, movement issues, and difficulties with speech.
Como o medicamento é administrado?
GTX-102 is given as an injection into the spinal fluid around the lower back, carried out by trained hospital doctors.
Is there a placebo in this study?
In this long-term extension study, participants generally receive the active medicine rather than an inactive dummy treatment (placebo).
Will taking part cost anything?
No. The study treatment and all trial-related tests are provided free of charge, and travel expenses are usually covered.
Can we stop taking part if we change our minds?
Yes. You are free to leave the trial at any point, and your standard medical care will continue as normal.
Como saber mais
Sempre consulte seu médico ou especialista antes de decidir participar de um estudo.
Interessado em participar?
Discussão
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