NCT02716246 · Ultragenyx Pharmaceutical Inc
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
What this study is about
The main objective of this study is to evaluate the effectiveness and safety of UX111 for the treatment of MPS IIIA.
View original scientific description
The main objective of this study is to evaluate the efficacy and safety of UX111 for the treatment of MPS IIIA.
Interventions
BIOLOGICAL
UX111
Self-complementary adeno-associated virus serotype 9 carrying the human SGSH gene under the control of a U1a promoter (scAAV9.U1a.hSGSH) will be delivered one time through a venous catheter inserted into a peripheral limb vein.
DRUG
Prophylactic Immunomodulatory (IM) Therapy
DRUG
Optimized Prophylactic IM Therapy
DRUG
Adjuvant IM Therapy
The Principal Investigator and/or caregiver, in consultation with the medical monitor, will determine whether to initiate adjuvant IM therapy. Not all participants may receive adjuvant IM therapy.
Primary outcome measures
Cerebrospinal Fluid (CSF) Heparan Sulfate (HS) (Disaccharide) Exposure
Time frame: Up to Month 24 Visit
Exposure is defined as the time-normalized area under the curve (AUC) of the percentage reduction from baseline.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- Diagnosis of MPS IIIA confirmed by the following methods:
- No detectable or significantly reduced SGSH enzyme activity by leukocyte assay, and
- Genomic DNA analysis demonstrating homozygous or compound heterozygous mutations in the SGSH gene (based upon review of documented results from a qualified laboratory, and with confirmation with Medical Monitor)
- For Cohort 1-3: From birth (participating sites in USA and Australia) OR 6 months (participating sites in Spain) to 2 years of age with no BSITD-III Cognitive Development Quotient (DQ) requirement, or older than 2 years with a BSITD-III Cognitive DQ of 60 or above (participating sites globally).
- For Cohort 4 (participating sites in Spain): 3 months to ≤ 2 years of age with no BSITD-III Cognitive DQ requirement, or \> 2 years of age with a BSITD-III Cognitive DQ of 60 or above at Screening Visit 1. Up to 2 additional patients \> 2 years and ≤ 5 years of age with a BSITD-III Cognitive DQ \< 60
Where
- Columbus, Ohio
- Pittsburgh, Pennsylvania
Collaborators
Abeona Therapeutics, Inc
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jul 17, 2026 · Source of record for eligibility and locations