MPS III B, Mucopolysaccharidosis Type IIIB
Conditions
Keywords
Sanfilippo Syndrome Type B
Brief summary
The primary objectives of this study are to evaluate the long-term safety and tolerability of AX 250 administered to subjects with MPS IIIB by an implanted ICV reservoir and catheter and to evaluate the impact of long-term AX 250 treatment on cognitive function in patients with MPS IIIB as assessed by developmental quotient (DQ).
Interventions
DRUGAX 250
Chimeric fusion of recombinant human alpha-N-acetylglucosaminidase and truncated human insulin-like growth factor 2 (rhNAGLU-IGF2)
Sponsors
Allievex Corporation
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
0 Years to 18 Years
Healthy volunteers
No
Inclusion criteria
* Must have completed 48 weeks in Part 2 of Study 250-201 and enter 250-202 within 8 weeks of study completion * Written informed consent from parent or legal guardian and assent from subject, if required * Has the ability to comply with protocol requirements, in the opinion of the investigator * Males and females who are of reproductive age should practice true abstinence, defined as no sexual activity, during the study and for 6 months after the study has been completed (or withdrawal from the study). If sexually active and not practicing true abstinence, males and females of reproductive age must use a highly effective method of contraception while participating in the study. * If female with childbearing potential, must have a negative pregnancy test at the Screening visit and be willing to have additional pregnancy tests during the study.
Exclusion criteria
* Has both (1) a cognitive AEq score ≤ 18 months, and (2) a DQ score ≤ 20 * Would not benefit from enrolling in the study in the opinion of the investigator * Has received stem cell, gene therapy or ERT (other than AX 250) for MPS IIIB * Has contraindications for neurosurgery (eg, congenital heart disease, severe respiratory impairment, or clotting abnormalities) * Has contraindications for MRI scans (eg, cardiac pacemaker, metal fragment or chip in the eye, or aneurysm clip in the brain) * Has a history of poorly controlled seizure disorder * Is prone to complications from intraventricular drug administration, including patients with hydrocephalus or ventricular shunts * Has received any investigational medication other than AX 250 within 30 days prior to the Baseline visit or is scheduled to receive any investigational drug during the course of the study * Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with protocol requirements, the subject's well-being or safety, or the interpretability of the subject's clinical data. * Is pregnant at any time during the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Evaluate the Long-term safety and tolerability of AX 250 administered in up to 33 subjects with MPS IIIB by assessing the number of participants with abnormal clinical laboratory values and/or Adverse Events related to the treatment | Entire study period, up to 240 weeks |
| Evaluating the impact of long-term AX 250 treatment on cognitive function in up to 33 patients with MPS IIIB as assessed by developmental quotient (DQ) | Entire study period, up to 240 weeks |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Evaluate the impact of long-term AX 250 treatment on Heparan sulfate (HS) levels in cerebrospinal fluid (CSF), serum and urine. | Entire study period, up to 240 weeks | — |
| Evaluate the impact of long-term AX 250 treatment on cognitive function in up to 33 patients with MPS IIIB as assessed by age equivalent score (AEq) | Entire study period, up to 240 weeks | Age equivalent score is derived from neurocognitive tests (Bayley Scales of Infant Development, 3rd edition OR Kaufman Assessment battery for Children, 2nd edition) |
| Evaluate the impact of long-term AX 250 treatment on adaptive function derived from the Vineland Adaptive Behavior Scales, 2nd edition (VABS-II) | Entire study period, up to 240 weeks | VABS-II is a measure of adaptive behavior and can be used to assess the level of subjects' functioning at various ages. Scale ranges from 0-4 (0 meaning never performs the behavior, and 4 meaning almost always performs the behavior independently) |
| Evaluate the impact of long-term AX 250 treatment on brain structure assessed by magnetic resonance imaging (MRI) | Entire study period, up to 240 weeks | — |
| Characterize immunogenicity as measured by IgE levels, formation of anti-AX 250, IGF1 and IGF2 antibodies in Cerebrospinal fluid (CSF) and serum. | Entire study period, up to 240 weeks | — |
Countries
Colombia, Germany, Spain, Taiwan, Turkey (Türkiye), United Kingdom, United States
Outcome results
None listed