Recruiting

Observational Study

Sponsor:

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Code:

NCT05705674

Conditions

Sanfilippo Syndrome

MPS3

Eligibility Criteria

Sex: All

Age: 5 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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

Conditions

Sanfilippo Syndrome

MPS3

Study ID

NCT05705674

Start date

May 1, 2023

Status verified date

Mar, 2024

Completion date

Dec, 2024

Anticipated

Primary completion date

Dec, 2024

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 5 - 70+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

6 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • To characterize the disease natural history in patients with MPS3. [ Time Frame: 6 months ]

Central Contacts and Locations

Locations

LDRTC

Recruiting

Fairfax, Virginia, United States, 22030

Contacts

Principal Investigator:

Ozlem Goker-Alpan, MD

More Information

Sponsor

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Last update posted

Mar 12, 2024

Last verified

Mar, 2024

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Lysosomal and Rare Disorders Research and Treatment Center, Inc. on 2024-03-12.