Prognosis of Sanfilippo Syndrome

At present, MPS III is terminal.

Life expectancy of children with Sanfilippo

At this time, only palliative care is available. Life expectancy varies based on Sanfilippo type and individual progression. The average life expectancy is in the teens.A 2017 study of patients in the United Kingdom with Sanfilippo syndrome analyized lifespans according to type of Sanfilippo and found:

  • In Sanfilippo type A: mean age at death (± standard deviation) was 15.22 ± 4.22 years,
  • In Sanfilippo type B: mean age at death was 18.91 ± 7.33 years
  • In Sanfilippo type C: mean age at death was 23.43 ± 9.47 years
  • Sanfilippo type D was not analyzed because the study lacked data on patients with this rare type

Sanfilippo has its most devastating effects on the brain.

Children experience hyperactivity, sleeplessness, loss of speech, loss of toileting skills, intellectual disability, heart problems, vision loss, seizures, loss of mobility, dementia, and finally death.

See the full list of early and later symptoms of Sanfilippo.

The disease progression can vary significantly from one child to the next, making it particularly difficult to predict.

Symptoms cover a wide spectrum and some children may experience particular symptoms more than others.

Causes of Death in Children With Sanfilippo

The “Mortality in patients with Sanfilippo syndrome” study report also found that respiratory tract infections, notably pneumonia, remain the leading cause of mortality in patients with Sanfilippo types A and B.

“Pneumonia accounted for more than 50% of deaths in patients with Sanfilippo syndrome type A. Cardiorespiratory failure, gastrointestinal complications, central nervous system complications and other causes were responsible for 11%, 4%, 4% and 30% of deaths, respectively.”

“Pneumonia was also the leading cause of death in patients with Sanfilippo syndrome type B. Cardiorespiratory failure, gastrointestinal complications and other causes accounted for 20%, 4% and 38% of deaths, respectively.”

Research to Cure Sanfilippo

Medical research has recently achieved promising break-throughs in gene therapy and enzyme-replacement therapy with hopes for the future. Clinical trials are happening or expected around the world. Information about clinical trials and referrals are available through the Foundation. For children living with Sanfilippo today, participation in a clinical trial is their only opportunity to try a treatment. Unfortunately, these trials only accept an extremely small number of patients, and time is not something these children have on their side. Cure Sanfilippo Foundation’s mission is to accelerate research to discovery a treatment or cure for Sanfilippo Syndrome.

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