Current Environment:

Rare Diseases Consortium | Overview

NIH-funded Rare Diseases Consortium studying autism and intellectual disability

Under a five-year, $6 million grant funded by the National Institutes of Health, Boston Children’s Hospital leads 10 medical centers in studying three rare genetic syndromes (tuberous sclerosis complex, Phelan-McDermid syndrome and PTEN Hamartoma Tumor Syndrome)that often cause autism spectrum disorder (ASD) and intellectual disability (ID).

The study’s goal is to launch clinical trials of new treatments and develop “biomarkers” that can be used to monitor treatment effectiveness—for the three rare syndromes and possibly for broader groups of ASD/ID patients.

Together, the sites are enrolling patients with tuberous sclerosis, Phelan-McDermid syndrome and with PTEN mutations, ages 3 to 21, and follow them for three to five years with physical examinations, neuropsychological testing and advanced brain imaging.

Advocacy groups for each condition, including the Tuberous Sclerosis Alliance, Phelan McDermid Syndrome Foundation, PTEN World, PTEN Life and The Beatrice and Samuel A. Seaver Foundation, helped design the studies and are providing additional funding.

The study’s lead investigators are:

  • Mustafa Sahin, MD, PhD, Principal Investigator, Boston Children’s Hospital
  • Audrey Thurm, PhD, Principal Investigator, NIH
  • Darcy Krueger, MD, PhD, Principal Investigator, Cincinnati Children’s Hospital Medical Center
  • Charis Eng, MD, PhD, Principal Investigator, and Thomas Frazier, PhD, co-investigator, Cleveland Clinic)
  • Joseph Buxbaum, PhD, Administrative Director, and Alexander Kolevzon, MD, Principal Investigator, Icahn School of Medicine at Mount Sinai
  • Elizabeth Berry-Kravis, MD, PhD, Co-Investigator, and Latha Soorya, PhD, Co-Investigator, Rush University Medical Center
  • Antonio Hardan, MD, Principal Investigator, Stanford University
  • Martina Bebin, MD, Principal Investigator, University of Alabama at Birmingham
  • Joyce Wu, MD, Principal Investigator, and Julian Martinez, MD, Co-Investigator, University of California at Los Angeles
  • Hope Northrup, MD, Principal Investigator, and Deborah Pearson, PhD, Co-investigator, The University of Texas Health Science Center at Houston