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

Sanfilippo Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05705674
• Other study ID #: 22-LDRTC-01
• Status: Recruiting
• Start date: May 1, 2023
• Est. completion date: December 2024

Study information

• Verified date: March 2024
• Source: Lysosomal and Rare Disorders Research and Treatment Center, Inc.
• Contact: Arooj Agha
• Phone: 571-732-4575
• Email: aagha[@]ldrtc.org
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 6
• Est. completion date: December 2024
• Est. primary completion date: December 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 5 Years to 99 Years

Eligibility

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

Related Conditions & MeSH terms

• Mucopolysaccharidosis III
• Sanfilippo Syndrome

Locations

Country	Name	City	State
United States	LDRTC	Fairfax	Virginia

Sponsors (2)

Lead Sponsor	Collaborator
Lysosomal and Rare Disorders Research and Treatment Center, Inc.	Team Sanfilippo

Country where clinical trial is conducted

United States, 

Outcome

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