November 17, 2009
Alison Duffy, UMass Medical School, 508-856-2000;
Jim Dryden, Washington University in St. Louis, 314-286-0110;


Researchers from University of Massachusetts Medical School and Washington University School of Medicine in St. Louis Collaborate, Lead U.S. Effort

WORCESTER, Mass.—Striving to create both a supportive community for patients and a research collaborative through which scientists and clinicians worldwide can work towards developing new treatments, experts from the United States, Europe, Japan and the Middle East have established an international network focused on Wolfram syndrome, a rare disorder genetically related to both diabetes and neurodegeneration that causes blindness and ultimately early death.

The international network began taking shape at a meeting initiated and organized under the auspices of the Association du Syndrome de Wolfram in France, presided over by Nolwen Jaffre, mother of a child with the syndrome, with the help of the Association Francaise contre les Myopathies (the French Muscular Dystrophy Association). The collaborative, designed to leverage individual investigations into the disorder and maximize treatment options for people with the syndrome, is led in the United States by Fumihiko Urano, MD, PhD, associate professor in gene function and expression and molecular medicine at UMass Medical School, and M. Alan Permutt, MD, of Washington University School of Medicine in St. Louis.

Wolfram syndrome is a rare autosomal recessive disorder characterized by childhood onset of diabetes mellitus (DM), followed by blindness, deafness and death from neurodegeneration when patients are in their 30s or 40s. Named for the physician who first described it in the 1930s, Wolfram syndrome is caused by the lack of the WFS1 gene and can result in a constellation of other disorders, including diabetes insipidus and optic nerve atrophy, which leads to blindness. Although it is difficult to estimate the number of patients worldwide—in part because the disorder is often misdiagnosed—there are believed to be only a few hundred known cases in the US. The rarity of the disease not only makes it difficult for physicians to become familiar with and recognize the symptoms, it also hinders research into possible treatment.

“Creating this network is a critical first step in pooling our expertise and our information—and the patients’ experiences—so we can move forward,” said Dr. Urano. “The more the scientific community knows, the better we can help physicians make the correct diagnosis for Wolfram patients, which in turn will lead to better treatment and additional research. Right now, patients feel isolated and their families are desperate for a cure. By bringing patients and researchers together, we can deepen our investigations, improve diagnosis and treatment, and ultimately find a cure.”

The network, which grew out of a meeting in Paris last month and is not yet officially named, will include an international patient registry, tissue bank, research network and steering committee. The meeting was attended by clinicians, genetic counselors and researchers from the US, United Kingdom, France, Spain, Lebanon and Japan, along with patients and their families.

“During the meeting we shared research and treatment information about Wolfram syndrome and examined models that are being used successfully by researchers working on other rare diseases,” said Dr. Urano.

“The objectives were not only to share data but to establish a roadmap for finding meaningful treatments for this terrible disease,” said Nolwen Jaffre. “Already, we are making exciting changes that we hope will help everyone involved.”

Meeting participants are moving forward to create an international patient registry, write clinical guidelines and research guidelines, publish a meeting report, and establish periodic multi-specialty clinics for Wolfram syndrome patients. The patient registry will help researchers better define the clinical aspects of Wolfram syndrome, identify patients for future clinical trials and to collect DNA for genetic studies and blood cells for research into disease mechanisms. A steering committee of scientists from the US, Japan and the United Kingdom will review requests from researchers seeking to obtain tissue samples for their work.

Publishing clinical guidelines will help physicians better assess and treat patients, who may develop different types of symptoms and should be referred to various specialists, including neurologists, endocrinologists, ophthalmologists and psychiatrists, depending on individual cases. Research guidelines will define for the scientific community the status of basic and clinical investigations and needs.

“Patients who register through our patient registry will receive a free genetic diagnosis through DNA sequencing, which is not covered by insurance but is the only way to confirm Wolfram syndrome,” Dr. Permutt said. Patients also will have access to future clinical trials and the network is hoping to establish funding to allow patients access to annual or semi-annual multi-specialty clinic visits free of charge. The clinic is based on a European model in which patients travel to one location to be seen by several experts, rather than having to travel around the country to access those experts. If funded, the clinic would be hosted by Washington University School of Medicine in St. Louis and bring together a range of specialists to manage patients’ care. “Having access to that specialized care by physicians who are Wolfram syndrome experts would be invaluable to patients and their families,” Dr. Permutt said.
Information about the patient registry is available at

About the University of Massachusetts Medical School
The University of Massachusetts Medical School, one of the fastest growing academic health science centers in the country, has built a reputation as a world-class research institution, consistently producing noteworthy advances in clinical and basic research. The Medical School attracts more than $200 million in research funding annually, 80 percent of which comes from federal funding sources. UMMS is the academic partner of UMass Memorial Health Care, the largest health care provider in Central Massachusetts. For more information, visit

About Washington University School of Medicine in St. Louis
Washington University School of Medicine's 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Children's hospitals. The School of Medicine is one of the leading medical research, teaching and patient care institutions in the nation, currently ranked third in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Children's hospitals, the School of Medicine is linked to BJC HealthCare. For more information, visit