This was written by PMSF to provide a summary of information in an accessible way for parents. PMSF does not speak on behalf of clinical trial study teams, pharmaceutical companies, or participants. It is important to make decisions based on the literature provided and seek guidance from medical experts and professionals.
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Summary:
About 1 in 4 people with Phelan-McDermid syndrome also have epilepsy. Medications used to control seizures (called anticonvulsants) are often the first treatment. However, some people need more than one medication to manage their seizures, and others still struggle with uncontrolled seizures.
A new drug called AMO-01 was tested in a small study to see if it is safe, well-tolerated, and effective for reducing seizures in people with Phelan-McDermid syndrome. This drug works by targeting a specific pathway in the body called the Ras-ERK pathway, which may play a role in epilepsy.
The study included six participants (ages 12 and older) at two hospitals: the Seaver Autism Center in New York and Texas Children’s Hospital. Each person received a single, six-hour infusion of the drug. Five of the six participants had a genetic change called a terminal deletion, which is common in Phelan-McDermid syndrome.
Key Findings:
- The drug was generally well-tolerated, with no serious side effects. Some mild or moderate side effects included increased appetite (in 2 participants) and more repetitive behaviors (in 2 participants).
- Caregivers kept seizure diaries and reported that seizures were reduced by at least 25% for most participants during the 4 weeks after the treatment.
- The researchers also measured brain activity (using a test called visual-evoked potentials) and changes in a protein involved in the Ras-ERK pathway. While there were some trends suggesting the drug had an effect, the sample size was too small to draw firm conclusions.
Conclusion:
This is a very early study but suggests that AMO-01 might help reduce seizures in people with Phelan-McDermid syndrome. However, more research is needed with a larger group of participants and a placebo (inactive treatment) for comparison to better understand its effects.