Genzyme and NORD Establish Program to Help Undiagnosed Patients with Rare Diseases

December 19, 2013

CAMBRIDGE, MA and DANBURY, CT—-Genzyme, a Sanofi company, and the National Organization for Rare Disorders (NORD) today announced the creation of a fund to pay for standard diagnostic testing for people with mysterious, undiagnosed medical conditions.  The fund will help those who have applied to the National Institutes of Health (NIH) Undiagnosed Diseases Program but who cannot afford the basic medical tests needed to make them eligible to participate in the NIH program.

“While progress in scientific research has been very promising in recent years, millions of Americans who have rare diseases go for five years or longer without an accurate diagnosis,” said NORD President and CEO Peter L. Saltonstall.  “This delays treatment and creates enormous financial and emotional stress for patients and their families.”

The new fund is made possible in part by a team of Genzyme employees who run the Boston Marathon to raise funds for NORD services on behalf of all patients and families affected by rare diseases.   Since 2008, members of the Genzyme Running Team have been paired with rare disease patient partners, and devote months before the Boston Marathon to training, raising awareness and fundraising.

“This initiative highlights the unmet need that still exists in helping patients with rare diseases find an accurate diagnosis,” said David Meeker, MD, President and CEO, Genzyme.  “We are proud of the work of the Genzyme Running Team and are excited that their fundraising efforts will be focused on a program with such immediate and direct benefit for patients.”

In 2014, the NIH Undiagnosed Diseases Program will expand to include a network of major academic medical centers across the U.S.  The Genzyme/NORD NIH Undiagnosed Diseases Fund will support testing for patients applying to all clinical sites and, in particular, the new satellite centers.  Patients applying to the NIH program who need assistance to pay for the required testing will be referred to NORD by the NIH centers.

“We are grateful for the interest of Genyzme, NORD and the Genzyme Running Team in supporting the Undiagnosed Diseases Network,” said William Gahl, MD, Director of the NIH Undiagnosed Diseases Program.  “The UDP serves individuals and families who are desperately seeking a diagnosis after having exhausted all other avenues.  We look forward to the expansion of the program in 2014, and we feel that support for this standard testing will be an important source of assistance for patients and their families.”

Since 1987, NORD has provided Patient Assistance Programs including free drug for patients who qualify on the basis of financial need, co-pay and premium assistance, and travel assistance for treatment or to participate in clinical trials.  Currently, NORD administers approximately 50 Patient Assistance Programs.

About the NIH Undiagnosed Diseases Program (UDP)
Established in 2008, the NIH UDP is the primary national resource for patients and their physicians who have exhausted other alternatives in seeking a diagnosis.  Those accepted into the program go to the NIH Clinical Center in Bethesda, MD, where a multidisciplinary team of medical experts seeks to unravel the mystery and determine a diagnosis.

Patients applying for admission to UDP provide their medical history and medical test results.  A team of NIH physicians then evaluates the medical tests for diagnostic clues.  Due to limited resources, NIH only admits patients physicians think they can help, and only those patients with a baseline of preliminary medical tests are eligible for consideration into the program.

About the National Organization for Rare Disorders (NORD)
NORD is a nonprofit organization established in 1983 to represent all individuals and families affected by rare diseases.  It provides advocacy, education, support for research, and patient/family services to improve the lives of the 30 million Americans living with rare diseases.

About Genzyme, a Sanofi Company
Genzyme has pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years.  With a focus on rare diseases and multiple sclerosis, it is dedicated to making a positive impact on the lives of the patients and families it serves.

About Sanofi
Sanofi, a global and diversified healthcare leader, discovers, develops and distributes therapeutic solutions focused on patients’ needs.  Sanofi has core strengths in the field of healthcare with seven growth platforms: diabetes solutions, human vaccines, innovative drugs, consumer healthcare, emerging markets, animal health and the new Genzyme.


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