The Family Center for Neurofibromatosis and Schwannomatosis

Overview

The Family Center for Neurofibromatosis and Schwannomatosis advances our understanding of these rare, genetic disorders through innovative basic science, clinical, and population level research. Our research program spans all types of neurofibromatosis (NF), including neurofibromatosis 1 (NF1), NF2-related schwannomatosis (NF2-SWN, formerly known as neurofibromatosis type 2 or NF2), and other forms of schwannomatosis (SWN). We are committed to identifying new medical treatments for all types of NF by designing and running innovative clinical trials. We also collaborate with a multidisciplinary team of researchers across Massachusetts General Hospital and Mass Eye and Ear to advance our understanding of NF. Current research explores all aspects of NF, from the molecular biology of tumors to the psychological aspects of having these disorders.

Research Projects

Ongoing clinical trials and research projects led by our team include:

• INTUITT-NF2 Clinical Trial

This is a multi-arm phase II platform-basket screening study designed to test multiple experimental therapies simultaneously in patients with NF2-associated schwannomatosis (formerly called neurofibromatosis type 2) with associated progressive tumors of vestibular schwannomas, non-vestibular schwannomas, meningiomas, and ependymomas.

• STARFISH Clinical Trial

This is a placebo-controlled, multi-arm phase II platform screening trial designed to test the safety, pain responses, and pharmacodynamic activity of multiple experimental therapies simultaneously in participants with moderate-to-severe pain due to schwannomatosis.

• An Online Platform to Promote Evidence-Based Care for Underserved Patients with Neurofibromatosis 1

This clinical trial will compare two ways to increase guideline-recommended health surveillance for children and adults with NF1 who speak English or Spanish and do not currently receive care at a specialty NF clinic.

Publications

• Visit PubMed to view recent publications by members of our research team.

Meet Our Research Team

• Scott Plotkin MD, PhD

  • Executive Director, Pappas Center for Neuro-Oncology
  • Professor of Neurology, Harvard Medical School
• Justin Jordan, MD, MPH

  • Director, MGH Neurofibromatosis Clinic
  • Associate Professor of Neurology, Harvard Medical School
• Kien-Ninh Ina Ly, MBBS

  • Assistant Professor of Neurology, Harvard Medical School
• Vanessa Merker, PhD

  • Research Director I Assistant Professor of Neurology, Harvard Medical School
• Paulina Arias, MSW

  • Project Manager
• Sophia Carias, BA

  • Clinical Research Coordinator
• Evan Koch, BA

  • Clinical Research Coordinator
• Naina Murthy, BA

  • Clinical Research Coordinator
• Maya Viera, BS

  • Clinical Research Coordinator

Events

• In collaboration with the Boston Children’s Hospital NF clinic, we host an annual symposium for NF patients and their families. Watch videos from our prior symposiums.
• If you would like to be notified of future NF patient and family events, please enter your contact information on our email subscription form.

Partnerships

Faculty in our research center help lead multiple national and international research efforts to improve care for people with NF, including:

• Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration
• Neurofibromatosis Clinical Trial Consortium
• International Consensus Group on Neurofibromatosis Diagnostic Criteria
• Genomics of MPNST Consortium
• Neurofibromatoses and Schwannomatosis Variant Curation Expert Panel

• Children’s Tumor Foundation
• NF Network
• NF Northeast
• NF Midwest
• Texas NF
• NF Central Plains
• NF North Central
• NF Michigan
• NF California
• Littlest Tumor Foundation