FDA releases guidance for rare disease known as Sanfilippo syndrome

On Tuesday, the US Food and Drug Administration issued the draft guidance, “ Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment,” which provides recommendations to industry on important clinical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 two and six 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.