Rare disease drug development in the news: What does this mean for the Phelan-McDermid syndrome community?

By. Lauren Schmitt, PhD, Chief Science Officer & Carla D’Imperio, Director of Family Support

Date: November 9, 2026

We are excited to announce the second multi-disciplinary Phelan-McDermid syndrome clinic at the Lurie Center for Autism at Massachusetts General Hospital (MGH) in Boston, MA! This clinic is directed and founded by Ann Neumeyer, MD and co-founded by Ron Thibert, MD.

The following specialties are part of the multidisciplinary clinic:

  • Neurology: Ann Neumeyer, MD and Ron Thibert, DO (epilepsy)
  • Gastroenterology: Sarah Kadzielski, MD
  • Psychiatry: Christopher Keary, MD and Aditya Pawar, MD
  • Genetics: Catherine Nowak, MD
  • Intake coordinator and Social Work: AJ Cullen, LICSW, C-AAIS

Dr. Neumeyer shares, “We are so pleased to partner with the PMSF to continue to provide multidisciplinary and coordinated lifelong care for families of children and adults with Phelan-McDermid syndrome.” 

Who can be seen at the clinic?

Both pediatric and adult patients with Phelan-McDermid syndrome or suspected Phelan-McDermid syndrome. Patients can be seen from out of state, but how often depends on insurance. 

Please note that the Lurie Center will accept Phelan-McDermid syndrome patients regardless of whether they have an autism diagnosis.

What is the format of the clinic?

Phelan-McDermid syndrome clinic days are quarterly for new patients. For the first appointment, families will see one provider onsite and one provider remotely, as appropriate. Follow-up will occur as needed and will not fall on these quarterly days. 

AJ Cullen, LICW, is the new intake coordinator at the Phelan-McDermid Syndrome Clinic and will work with families to help them throughout the scheduling and appointment process.

What insurance does the clinic take?

Both private and public insurance.

Are telehealth or remote visits an option?

Telehealth is available in Massachusetts and other states depending on the doctors’ licensing. Please contact the clinic for specific details.

I’m interested in the clinic; what do I do next?

Contact AJ Cullen, LISCW, at the Lurie Center by email at  LurieCenter@partners.org or by phone at 781-860-1700.

PMSF is committed to expanding our Clinical Care Network and is so excited to have a second multidisciplinary clinic available to families. Carla D’Imperio, Director of Family Support, added, “We are thrilled for our families to be able to access excellent multidisciplinary care in Massachusetts, and we are grateful to Dr. Neumeyer for her commitment to Phelan-McDermid syndrome patients.”