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

NCT05705674 | Recruiting

• 1 other identifier: 22-LDRTC-01
• Study Type: observational
• Target: 6
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Sanfilippo Syndrome; MPS3

Outcome Measures

Primary Outcomes (1)

• To characterize the disease natural history in patients with MPS3.

  To characterize the disease natural history in patients with MPS3.

  6 months

Eligibility Criteria

• Age: 5 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Lysosomal and Rare Disorders Research and Treatment Center, Inc.: lead
• Team Sanfilippo: collaborator

Study Sites (1)

LDRTC

Fairfax, Virginia, 22030, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Serum and plasma

MeSH Terms

Conditions

Mucopolysaccharidosis III

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Arooj Agha

CONTACT

571-732-4575; aagha@ldrtc.org

Lauren Noll

CONTACT

571-732-4655; lnoll@ldrtc.org

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 20, 2023
• First Posted: January 31, 2023
• Study Start: May 1, 2023
• Primary Completion: December 1, 2024
• Study Completion: December 1, 2024
• Last Updated: March 12, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)