Actively Recruiting
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
Led by Ultragenyx Pharmaceutical Inc · Updated on 2026-04-24
36
Participants Needed
5
Research Sites
583 weeks
Total Duration
On this page
Sponsors
U
Ultragenyx Pharmaceutical Inc
Lead Sponsor
A
Abeona Therapeutics, Inc
Collaborating Sponsor
AI-Summary
What this Trial Is About
The main objective of this study is to evaluate the efficacy and safety of UX111 for the treatment of MPS IIIA.
CONDITIONS
Official Title
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of MPS IIIA confirmed by absent or significantly reduced SGSH enzyme activity by leukocyte assay and genetic testing showing homozygous or compound heterozygous SGSH mutations
- Age from birth (USA and Australia sites) or 6 months (Spain sites) up to 2 years with no cognitive quotient requirement, or older than 2 years with a cognitive quotient of 60 or above
- Cohort 4 (Spain only): Ages 3 months to 2 years with no cognitive quotient requirement or older than 2 years with cognitive quotient 60 or above; up to 2 additional subjects older than 2 and up to 5 years with cognitive quotient below 60 may be enrolled
- Subjects must be at least 6 months old at the time of UX111 administration
- Corrected gestational age used for children 24 months or younger born prematurely (before 36 weeks gestation)
- Cognitive quotient assessed during screening if required
- Cohort 4 only: Up-to-date vaccination status per country guidelines at least 30 days before enrollment and willingness to defer vaccines for 6 months post immunomodulatory medication
You will not qualify if you...
- Inability to participate in clinical evaluation as determined by the principal investigator
- For Cohorts 1-3: Presence of two nonsense or null SGSH variants or at least one S298P mutation
- Evidence of an attenuated MPS IIIA phenotype
- Medical conditions preventing lumbar puncture or anesthesia
- Active viral infection
- Illness or chronic drug treatment posing risk for gene transfer or study participation
- For Cohorts 1-3: Anti-AAV9 antibody titers of 1:100 or higher and positive T-cell responses to AAV9
- Exposure to or active infection with HIV, hepatitis B or C, or other clinically significant infections
- Bleeding disorders or contraindications for lumbar puncture
- Sensory impairments interfering with neurodevelopmental testing
- Uncontrolled seizures
- Conditions preventing MRI
- Cardiomyopathy or significant congenital heart abnormalities
- Significant non-MPS IIIA central nervous system impairment or behavioral issues affecting study results
- Abnormal lab values meeting defined criteria
- Female participants who are pregnant or have positive pregnancy tests
- For Cohorts 1-3: Recent vaccination with viral attenuated vaccines within 30 days prior to treatment
- Previous hematopoietic stem cell transplantation
- Prior participation in gene/cell therapy or enzyme replacement therapy trials
- Cohort 4 only: Known hypersensitivity increasing risk, unwillingness to avoid certain foods and medications during treatment period
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 5 locations
1
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Completed
2
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Completed
3
Women's and Children's Hospital
North Adelaide, South Australia, Australia, 5006
Completed
4
Vall d'Hebron Barcelona Hospital Campus
Barcelona, Spain, 08035
Actively Recruiting
5
Hospital Clínico Universitario de Santiago
Santiago de Compostela, Spain, 15706
Actively Recruiting
Research Team
P
Patients Contact: Trial Recruitment
CONTACT
H
HCPs Contact: Medical Information
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SEQUENTIAL
Primary Purpose
TREATMENT
Number of Arms
4
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