The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Status: Enrolling

Conditions: Sanfilippo Syndrome; MPS3

Study type: Observational

Funder types: Other

Identifiers

NCT05705674

22-LDRTC-01

Details and patient eligibility

About

The natural history study of patients with Sanfilippo disease(s) (MPS3)

Full 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.

Enrollment: 6 estimated patients

Sex: All

Ages: 5 to 99 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. IRB - approved informed consent/assent signed by subject and/or parent(s) or legal guardian(s).
2. 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).
3. Male or female; five years of age and older
4. Negative urine pregnancy test at screening for female subjects with child-bearing potential

Exclusion criteria

1. Unwilling or unable to follow protocol requirements as per principal investigator
2. Any serious or chronic medical illness, including significant cardiac or severe debilitating pulmonary disease as determined by the investigator.
3. Any medical condition that, in the opinion of the PI, would place a subject at undue risk
4. Inability to cooperate for clinical and safety data collection
5. Use of genistein or Miglustat within one week of the study
6. Evidence of hepatitis B or hepatitis C infection upon serological testing at screening
7. Currently participating in another interventional drug trial or has completed an interventional trial less than one month prior to the screening visit