Rare Daily Staff

The U.S. Food and Drug Administration has issued draft guidance that provides recommendations that can support a clinical development programs for companies developing therapies for mucopolysaccharidosis type III, also known as Sanfilippo Syndrome.

Mucopolysaccharidosis type III (MPS III) is a rare and life-threatening disorder 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 is 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 guidance covers such things as trial design, trial enrollment criteria, pharmacodynamic endpoints, and efficacy endpoints for trials.

“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,” said Janet Woodcock, director of the FDA’s Center for Drug Evaluation and Research.

Photo: Janet Woodcock, director of the FDA’s Center for Drug Evaluation and Research.

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