The Natural History Study of Patients With Sanfilippo Disease(s) (MPS3)
Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY
The natural history study of patients with Sanfilippo disease(s) (MPS3)
Eligibility
Participation Requirements
Sex: All
Minimum Age: 5
Maximum Age: 99
Healthy Volunteers: f
View:
• 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
Locations
United States
Virginia
LDRTC
RECRUITING
Fairfax
Contact Information
Primary
Arooj Agha
aagha@ldrtc.org
571-732-4575
Backup
Lauren Noll
lnoll@ldrtc.org
571-732-4655
Time Frame
Start Date: 2023-05-01
Estimated Completion Date: 2024-12
Participants
Target number of participants: 6
Related Therapeutic Areas
Sponsors
Leads: Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Collaborators: Team Sanfilippo