Phelan McDermid Syndrome Study
Now enrolling children ages 3 to 12
This Phase 3 study, called the Koala study, examines whether NNZ-2591, an investigational medication, can improve communication and daily living skills in children with Phelan McDermid syndrome.
Study directors: Elysa Marco, MD, and Kevin Shapiro, MD, PhD
- Ages3 to 12 years
- Visits11 over 5 months
- LocationsCortica Marin and Glendale
- CostNo cost to participate, plus $100 per on-site visit
Who can join
- Ages 3 to 12 years
- A clinical diagnosis of Phelan McDermid syndrome with a documented SHANK3 genetic change
- A body weight over 22 pounds (10 kg) at the first visit
Your child may not be able to join if they have
- A seizure disorder that is not under control
- A medical or psychiatric illness that is not stable
- Current treatment with more than 3 psychotropic medications
- Current use of certain other medications (our study team can talk this through with you)
What to expect
- Testing
- Thorough cognitive assessments, psychiatric questionnaires and medical evaluations.
- Visits
- 11 visits over 5 months: 5 in clinic at Cortica Marin or Cortica Glendale and 6 by telehealth.
- Cost
- Medical visits and medications in the context of research are provided to families at no cost. We offer full travel support for families from outside California.
- Payment
- Families receive $100 for each on-site visit for their time, effort and travel.
Official study title: A Phase 3 Study of NNZ-2591 in Pediatric Participants with Phelan McDermid Syndrome