A lysosomal storage disease caused by a missing enzyme or low enzyme production . Storage effects every cell and function of the body in time . Not approved treatment as of 2019, terminal usually in 2 decade of life for most. Attenuated forms and Types C and D generally live longer .
There are 103 people in the Sanfilippo Syndrome map
MPS III, mucopolysaccacharidosis Type 3 , Sanfilippo Syndrome,
Lysosomal storage disease, metabolic
Reoccurring repiratory illness, Hyperactivity, cognitive delay and or decline , large head, insomnia , corse facial features and hair, hydrocephalus , seizures, vision issues , toileting, loss of motor skills, contractures, movement disorders
Trials only with Gene therapy and Enzyme Replacemebt therapy for Types A and B
Substrate reduction therapies help for some with genistein isoflavones and Miglustat / Zavesca ( used in Gaucher ) works with secondary storage in Sanfilippo .
Trehalose sugar also has an autophagy effect if tolerated orally and is being trialed via IV late 2019-2020. By Team Sanfilippo Foundation in partnership with Seelos Therapuetics .
2 people with Sanfilippo Syndrome have taken the SF36 survey. Mean of Sanfilippo Syndrome is 1160 points (32 %). Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Take the SF36 Survey