A Natural History Study of Patients With Sanfilippo Disease(s) (MPS3) | MPS IIIA, IIIB, IIIC, IIID | Observational Study | Lysosomal Center

January 31, 2023

Page last updated: January 31, 2023

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Trial Information

Lysosomal and Rare Disorders Research and Treatment Center, Inc. is conducting a natural history study of patients with Sanfilippo disease (MPSIII or MPS3).

Number of participants: 6 children with MPS III, ages 5 years old and older; open to all subtypes

Duration: 6 months. Participants will have blood and urine collected, hearing assessment, complete questionnaires and are evaluated by the Principal Investigator.

Locations: Fairfax, Virginia, United States

Qualifications to Participate:

Inclusion Criteria | To be eligible to participate in the study, patients must meet all of the following 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 | Patients who meet any of the following criteria will not be eligible to participate in the study:

  • 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

Learn more: For more information about this study and/or to sign up, read about it on ClinicalTrials.gov.

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