Wednesday, February 4, 2015

MassGeneral Hospital for Children launches the world’s first Pitt Hopkins Syndrome Clinic

MassGeneral Hospital for Children (MGHfC) announced today that it will open the world’s first Pitt Hopkins Syndrome (PTHS) Clinic. The clinic – made possible by a generous donation from Nancy LeGendre and Walter Herlihy, parents of two young women with Pitt Hopkins Syndrome – will focus on providing knowledge-based medical care and serving the comprehensive medical needs of individuals with PTHS. With the creation of the clinic, patients and their families will have access to multiple specialists, broad-based medical resources, and the opportunity to expand a bio-repository critical to laboratory research into the disease at Massachusetts General Hospital.

 “We want to provide families with answers,” said Ron Thibert, DO, MsPH, co-director of the Pitt Hopkins Syndrome Clinic and clinical director of the Angelman Syndrome Clinic at MGHfC. “The clinic’s purpose is to further understand and diagnose Pitt Hopkins Syndrome. Bringing patients with similar diagnoses to a dedicated clinic will allow us to develop in depth expertise and practice guidelines, and also help us expand our clinical knowledge and experience in managing the specific problems these patients might experience over their lifetime.”

“We are extremely pleased to have this opportunity to support the opening of the Pitt Hopkins Syndrome Clinic,” said Nancy LeGendre. “It is frightening and life altering to learn that your child has a rare disorder. We are hopeful that the clinic at MGHfC will provide symptomatic care and one-stop directed medical treatment so that children and adults with Pitt Hopkins Syndrome can live full, healthy, active lives.”  “Our clinic will provide direct support and 'one-stop' access to resources that are so needed by individuals with Pitt Hopkins Syndrome and their families," adds Thibert.  The clinic will provide coordinated care with access to a clinical geneticist, neurologist, psychologist, gastroenterologist and pulmonologist.  The ultimate goal is to improve health and quality of life for individuals with PTHS.

Individuals living with PTHS may suffer from developmental delays, limited speech, low muscle tone, extreme breathing problems, seizures, gastrointestinal issues, and autistic or hyperactive behaviors including great excitability.  Affected individuals have distinctive facial features, and many have limited mobility.  Some individuals may remarkably exhibit a happy, mellow demeanor. 

Genetic testing became available after discovery of mutations in the TCF4 gene as the cause of Pitt Hopkins Syndrome in 2007, but clinical suspicion for testing was limited to the most profoundly affected patients. “There is currently an evolving genetic picture of rare disorders,” said David Sweetser, MD, PhD, chief of the Medical Genetics Program at MGHfC and co-director of the Pitt Hopkins Syndrome Clinic at MGHfC. “Expanded genetic screening, which includes gene panel testing and whole exome sequencing, has vastly improved our ability to make the diagnosis, but the true incidence of this disorder still remains to be determined.”

The number of identified patients worldwide is now minimally ten-fold its 2012 estimate of 350 cases. "We are learning that there is more variability in this condition than originally thought. We eventually hope to understand how a specific genetic mutation correlates with the patient's clinical presentation or phenotype as this will enhance our ability to provide care across the lifespan,” adds Sweetser.

The Pitt Hopkins Syndrome Clinic will work closely with the Angelman Syndrome Clinic at MGHfC in identifying and recruiting patients.  A number of individuals genetically determined to have Pitt Hopkins Syndrome previously held a clinical diagnosis of Angelman Syndrome as the diseases share many of the same medical and developmental concerns.

The clinic coordinator, Marcie Steeves, can be reached by calling (617) 726-1562.

For more information about PTHS, visit ;

For more information about MGHfC, visit

Cassandra Aviles, 617-724-6433,

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