Patients living with: MPS IIIA Sanfilippo A Syndrome

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 295 Ages: 4 to >60

Male
49% Male
Female
48% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

51% 2 - 6 times a year
22% 7 - 11 times a year

Major episodes of care

been admitted to hospital
40% been admitted to hospital
been to the ER
34% been to the ER
had surgery
26% had surgery

A combination of treatments

image description
Prescription medication 31% Over-the-counter supplements, vitamins, herbs, remedies 27% None 18%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Behavior problems
  • Changes in mental status

Average age at diagnosis

Average Age at Diagnosis
5 Year(s) old
<1 47
Youngest AGE RANGE Oldest

Extensive testing

  • Genetic TestingGenetic Testing
  • Blood testsBlood tests
  • Urine testsUrine tests
  • BiopsyBiopsy
  • MRIMRI

Different types of tests

Different Types of Tests
17

Diagnosing specialty

  • Genetics
  • Neurology
  • Metabolism

Patients everywhere are eager to help find better treatments

Better Treatments

91% want to be contacted about trials

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