Page last updated: January 31, 2023
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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.