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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05705674

Enrollment

Registered

2023-01-31

Start date

2023-05-01

Completion date

2024-12-31

Last updated

2024-03-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

MPS3, Sanfilippo Syndrome

Brief summary

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

Detailed 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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

5 Years to 99 Years

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

Design outcomes

Primary

Measure	Time frame	Description
To characterize the disease natural history in patients with MPS3.	6 months	To characterize the disease natural history in patients with MPS3.

Countries

United States

Contacts

Primary ContactArooj Agha

aagha@ldrtc.org571-732-4575

Backup ContactLauren Noll

lnoll@ldrtc.org571-732-4655

Outcome results