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

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

Study Overview

• Status: Recruiting
• Conditions: Sanfilippo Syndrome; 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.

• Study Type: Observational
• Enrollment (Estimated): 6

Contacts and Locations

• Study Contact: Name: Arooj Agha; Phone Number: 571-732-4575; Email: aagha@ldrtc.org
• Study Contact Backup: Name: Lauren Noll; Phone Number: 571-732-4655; Email: lnoll@ldrtc.org

Study Locations

• United States
  • Virginia
    • Fairfax, Virginia, United States, 22030
      • Recruiting
      • LDRTC
      • Contact: Ozlem Goker-Alpan, MD; Phone Number: 703-261-6220; Email: ogokar-alpan@ldrtc.org
      • Contact: Lauren Noll; Phone Number: 571-732-4655; Email: lnoll@ldrtc.org
      • Principal Investigator: Ozlem Goker-Alpan, MD
      • Sub-Investigator: Lia Van, NP-C

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 5 years to 99 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

All patients with MPS3 who meet the criteria above can be enrolled.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Lysosomal and Rare Disorders Research and Treatment Center, Inc.
• Collaborators: Team Sanfilippo

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2023
• Primary Completion (Estimated): December 1, 2024
• Study Completion (Estimated): December 1, 2024

Study Registration Dates

• First Submitted: January 20, 2023
• First Submitted That Met QC Criteria: January 20, 2023
• First Posted (Actual): January 31, 2023

Study Record Updates

• Last Update Posted (Actual): March 12, 2024
• Last Update Submitted That Met QC Criteria: March 7, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Mucopolysaccharidoses; Mucopolysaccharidosis III
• Other Study ID Numbers: 22-LDRTC-01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: No plan to make IPD available to other researchers.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No