Overview
The natural history study of patients with Sanfilippo disease(s) (MPS3)
Description
This is a natural history study of patients with Sanfilippo Disease (MPS3). Patients will be followed over the course of 6 months in which they have blood and urine collected, hearing assessment, complete questionnaires and are evaluated by the Principal Investigator.
Eligibility
Inclusion Criteria:
- IRB - approved informed consent/assent signed by subject and/or parent(s) or legal guardian(s).
- Genetically confirmed diagnosis of MPS III disease Genomic DNA analysis demonstrating a homozygous or compound heterozygous pathogenic variants in SGSH (type A), NAGLU (type B), HGSNAT (type C), or N- acetylglucosamine-6-sulfatase GNS (type D).
- Male or female; five years of age and older
- Negative urine pregnancy test at screening for female subjects with child-bearing potential
Exclusion Criteria:
- Unwilling or unable to follow protocol requirements as per principal investigator
- Any serious or chronic medical illness, including significant cardiac or severe debilitating pulmonary disease as determined by the investigator.
- Any medical condition that, in the opinion of the PI, would place a subject at undue risk
- Inability to cooperate for clinical and safety data collection
- Use of genistein or Miglustat within one week of the study
- Evidence of hepatitis B or hepatitis C infection upon serological testing at screening
- Currently participating in another interventional drug trial or has completed an interventional trial less than one month prior to the screening visit