A randomised, multi-center, double-blind, sham-controlled, parallel-group, phase III clinical study to evaluate the efficacy and safety of intrathecally administered rugonersen in pediatric and adult participants with Angelman syndrome.
Angelman syndrome is a rare genetic condition that affects the nervous system, causing severe learning difficulties, speech challenges, and movement issues. This Phase III clinical trial tests an experimental medicine called rugonersen to see if it can improve daily life for adults with the condition. Participants will be placed into groups by chance. One group receives rugonersen injected into the fluid around the spine (a lumbar puncture), while another group receives a fake injection (a sham procedure) so nobody knows who receives which treatment. Over 56 weeks, doctors will test changes in communication, thinking, and motor skills, and monitor brain activity using an EEG. Safety is a primary focus. Researchers will track side effects such as fevers or nerve symptoms. Taking part is completely voluntary and will not affect regular NHS care.
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¿De qué trata este estudio?
Angelman syndrome is a rare genetic disorder that affects how the brain and nerves develop. People with Angelman syndrome usually have severe speech impairments, movement problems, seizures, and learning disabilities. At the moment, there is no cure, and existing treatments only help manage the day-to-day symptoms.
This trial is looking at an investigational medicine called rugonersen. Rugonersen is designed to address the underlying genetic cause of Angelman syndrome in brain cells. It is given as an injection into the lower back, into the spinal fluid that flows up to the brain. This helps the medicine reach the central nervous system directly.
Because this is a Phase III trial, rugonersen has already been tested in earlier, smaller studies. This stage involves more people to clearly confirm whether the treatment works and how safe it is over 56 weeks. The main goal is to find out if the medicine improves thinking and expressive communication skills, such as using signs, sounds, or words to communicate.
Researchers will also monitor physical movements, sleep, behaviour, and electrical activity in the brain. If successful, this trial could represent a major step towards an approved targeted treatment for people living with Angelman syndrome.
Puntos clave
- Tests an experimental drug called rugonersen for adults with Angelman syndrome.
- Compares the active drug to a dummy procedure over 56 weeks.
- Medicine is delivered via an injection into the spinal fluid in the lower back.
- Aims to find out if the treatment improves communication, learning, and motor skills.
- Participation is completely voluntary and can be stopped at any time.
¿Quién puede ser elegible?
This clinical trial is looking for adults aged 18 and older who have a confirmed diagnosis of Angelman syndrome. Both men and women can join.
Because this trial measures skills like communication, learning, and motor function, participants must be able to take part in developmental assessments with the research team. A parent, family member, or carer will usually need to attend visits alongside them to help support the participant throughout the study.
People with certain other unstable medical conditions or individuals who cannot safely receive an injection into the lower back might not be able to take part. The study doctors will review every person's complete medical history to decide if joining is safe.
¿Podría este estudio ser adecuado para ti?
Responde estas preguntas rápidas para ver si puedes ser elegible. Esto es solo una guía: el equipo de investigación toma la decisión final.
- Aged 18 years or older
- Confirmed diagnosis of Angelman syndrome
- Able to attend regular hospital appointments for 56 weeks
- Has a carer or family member available to accompany them to visits
- Able to safely have medical tests and an injection in the lower back
¿En qué consiste la participación?
Taking part in the trial lasts for just over a year (at least 56 weeks) and requires regular visits to a specialist hospital or research clinic. Participants will be randomly chosen to receive either the active medicine (rugonersen) or a 'sham' procedure. A sham procedure mimics the injection so neither the family nor the study team knows who received the real medicine, keeping results unbiased.
The medicine is given via a small needle into the spinal fluid in the lower back (a lumbar puncture). During study visits, doctors will run developmental assessments that test speech, understanding, and fine motor skills like grasping objects. The team will also check walking and balance, record brainwaves using small stickers on the scalp (an EEG test), and carry out standard health checks like blood tests and temperature checks.
Support is provided to help carers and participants travel to the clinic, and the research team will closely monitor the participant between visits.
Riesgos y beneficios potenciales
Ubicaciones (4)
- —No verificadoEspaña
- —No verificadoAlemania
- —No verificadoPaíses Bajos
- —No verificadoItalia
Preguntas comunes
What is Angelman syndrome?
It is a genetic condition affecting the nervous system that causes severe speech issues, learning disabilities, balance problems, and unique behaviours such as frequent laughter and smiling.
How is the trial medicine given?
It is given as an injection into the fluid around the spinal cord in the lower back, allowing the medicine to travel directly to the brain.
What is a sham procedure?
A sham procedure is a dummy process designed to feel like the real injection without giving the medicine. This ensures that expectations do not bias the study results.
Will taking part cost anything?
No, the study medicine and all study-related tests are free. Most trials also reimburse reasonable travel and food costs for participants and their carers.
Can a participant leave the trial early?
Yes, you can leave the study at any time. It will not change the standard medical care or NHS treatment you receive.
Cómo obtener más información
Siempre hable con su médico de cabecera o especialista antes de decidir participar en un estudio.
Discusión
Discusión comunitaria
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