Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH

Trial statusRecruiting
Trial phasePhase 2, Phase 3
Trial typeInterventional
Biological sexAll
AgeNot listed
SponsorUltragenyx Pharmaceutical Inc

About this trial

The main objective of this study is to evaluate the efficacy and safety of UX111 for the treatment of MPS IIIA.

Eligibility criteria

Qualifiers

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 ≥ 60 (n = up to 6). Up to 2 additional subjects > 2 years and ≤ 5 years of age with a BSITD-III Cognitive DQ < 60 may also be enrolled. •Subjects must be ≥ 6 months of age before UX111 administration. However, subjects may be consented and initiate relevant Screening Procedures and IM treatment < 6 months of age. Refer to Section 8.2 for relevant screening procedures •For children ≤ 24 months chronological age who were born prematurely, defined as born at < 36 weeks gestational age, the corrected gestational age must be used for determining inclusion •The BSITD-III Cognitive DQ is assessed during the onsite Screening visit, for subjects who require it •The age of the child on the date of the Screening BSITD-III assessment is used to determine the requirement for the BSITD-III Cognitive DQ score.

Disqualifiers

Inability to participate in the clinical evaluation as determined by PI

Cohorts 1 to 3 only: Identification of two nonsense or null variants on genetic testing of the SGSH gene (based upon review of documented results from a qualified laboratory, and with confirmation with Medical Monitor)

At least one S298P mutation in the SGSH gene (based upon review of documented results from a qualified laboratory, and with confirmation with Medical Monitor)

Has evidence of an attenuated phenotype of MPS IIIA, in the judgement of the PI

Trial design

Treatments tested in this trial

  • UX111
  • Prophylactic Immunomodulatory (IM) Therapy
  • Optimized Prophylactic IM Therapy
  • Adjuvant IM Therapy

Treatment groups

36 Participants
are divided into 4 treatment groups

Sponsors and collaborators

Ultragenyx Pharmaceutical Inc

Lead sponsor

Abeona Therapeutics, Inc

Collaborator