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  1. FDA In Brief

FDA In Brief: FDA Releases Guidance for Rare Disease Known as Sanfilippo Syndrome

February 4, 2020

Media Inquiries

  Amanda Turney

The following quote is attributed to Janet Woodcock, M.D., director of the FDA’s Center for Drug Evaluation and Research:

“The FDA is committed to fostering innovation in drug development, especially for rare diseases. Patients who are suffering with rare diseases frequently have few or no treatments available to treat their condition and new approvals can often mean hope for an enhanced quality of life and in some cases, survival."

“As part of our commitment to innovation and to patients, we are issuing a draft guidance regarding the rare disease, Mucopolysaccharidosis Type III, also known as Sanfilippo Syndrome."

“There are no approved therapies to treat this disease and we hope that this guidance will foster greater efficiency and consistency among drug development programs, and ultimately benefit patients. ”

  • Today, the FDA issued the draft guidance, “Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment,” which provides recommendations to industry on important clinical trial design features that can support a robust clinical development program for the development of therapies for Mucopolysaccharidosis Type III (MPS III), also known as Sanfilippo Syndrome.
  • MPS III is a rare and life-threatening disorder, often appearing in children, in which the body is missing or does not have enough enzymes to break down long chains of sugar molecules, called glycosaminoglycans (GAG). The buildup of GAGs can lead to cellular damage and progressive tissue and organ dysfunction, primarily involving the central nervous system. The rate of progression of the neurological symptoms are not well characterized in MPS III.
  • Children with MPS III at birth appear healthy. The first symptoms are often mild developmental delays such as speech delays and usually appear between the ages of 2 and 6 years. As the disease progresses, children typically develop behavioral problems and gradual loss of developmental and cognitive skills. It may take years for children to receive a diagnosis for MPS III due to the rarity of the disease and the nonspecific initial symptoms.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation’s food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.


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