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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/show/NCT02493998




Registration number
NCT02493998
Ethics application status
Date submitted
22/06/2015
Date registered
10/07/2015
Date last updated
6/03/2020

Titles & IDs
Public title
A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
Scientific title
A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
Secondary ID [1] 0 0
250-901
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Mucopolysaccharidosis Type IIIB 0 0
Mucopolysaccharidosis Type 3 B 0 0
MPS III B 0 0
MPS 3 B 0 0
Condition category
Condition code

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Neurocognitive function - A neurodevelopmental assessment will be performed using standardized developmental tests to provide quantifiable measures of neurocognitive function.
Timepoint [1] 0 0
Screening, baseline, and every 12 weeks, for up to 48-96 weeks
Primary outcome [2] 0 0
Imaging characteristics - MRI will be used to assess changes in size of various organs affected by the disease, including brain, liver and spleen.
Timepoint [2] 0 0
Baseline and every 24 weeks, for up to 48-96 weeks
Primary outcome [3] 0 0
Behavioral function - Disease-related behaviors will be assessed using an MPS III-specific behavior rating scale.
Timepoint [3] 0 0
Baseline and every 12 weeks, for up to 48-96 weeks
Primary outcome [4] 0 0
Hearing - The function of conductive and sensorineural hearing pathways will be assessed using tympanometry and auditory brainstem response (ABR).
Timepoint [4] 0 0
Baseline and every 24 weeks, for up to 48-96 weeks
Primary outcome [5] 0 0
Sleep habits - Patient sleep habits will be assessed using specific questionnaires.
Timepoint [5] 0 0
Baseline and every 24 weeks, for up to 48-96 weeks
Primary outcome [6] 0 0
Quality-of-life - Multiple QOL tools will be used to capture physical, mental, and social well-being of the patient as well as to examine the impact of the patient's disease on the parent/guardian and family.
Timepoint [6] 0 0
Baseline and every 24 weeks, for up to 48-96 weeks
Primary outcome [7] 0 0
Biochemical, Molecular, Cellular and Genetic Markers of Disease Burden - Blood, urine, and CSF samples will be used to evaluate biochemical, molecular cellular, and genetic/genomic aspects of MPS IIIB.
Timepoint [7] 0 0
Baseline and every 24 weeks, for up to 48-96 weeks

Eligibility
Key inclusion criteria
- Individuals eligible to participate in this study must meet all of the following
criteria:

- Has deficient NAGLU enzyme activity at Screening. Blood for NAGLU enzyme activity will
be collected and analyzed centrally.

- Is = 1 and = 10 years of age and has an age-equivalent of = 12 months on the VABS-II

- DQ = 50 (determined by BSID-III or KABC-II)

- Has presented with signs/symptoms consistent with MPS IIIB; for individuals who have
not presented with signs/symptoms of disease (e.g., siblings of known patients), the
determination of eligibility will be at the discretion of the BioMarin medical monitor
in conjunction with the site investigator.

- 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
Minimum age
1 Year
Maximum age
10 Years
Gender
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
- Has another neurological illness that may have caused cognitive decline (e.g., trauma,
meningitis, or hemorrhage) before study entry

- Requires ventilation support, except for noninvasive support at night

- Has received stem cell, gene therapy or ERT for MPS IIIB

- Has contraindications for neurosurgery (e.g., congenital heart disease, severe
respiratory impairment, or clotting abnormalities)

- Has contraindications for MRI scans (e.g., 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 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 wellbeing or safety, or the interpretability of the
subject's clinical data.

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Completed
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
Melbourne Children's Trials Centre - Melbourne
Recruitment postcode(s) [1] 0 0
- Melbourne
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
Colombia
State/province [2] 0 0
Bogota
Country [3] 0 0
Germany
State/province [3] 0 0
Hamburg
Country [4] 0 0
Spain
State/province [4] 0 0
Santiago de Compostela
Country [5] 0 0
Taiwan
State/province [5] 0 0
Taipei
Country [6] 0 0
Turkey
State/province [6] 0 0
Ankara
Country [7] 0 0
United Kingdom
State/province [7] 0 0
London

Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
Name
Allievex Corporation
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
Mucopolysaccharidosis type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B) is a
severe neurodegenerative disorder. The purpose of this study is to learn more about the
health problems in patients with MPS IIIB and how to measure these problems over time. It
will particularly look at how the disease develops in young children. This is an
observational study, so no experimental drug will be given. The results from this study will
help us design future studies to measure whether these health problems get better when we
give experimental drug for MPS IIIB.
Trial website
https://clinicaltrials.gov/show/NCT02493998
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Allievex Medical Monitor
Address 0 0
Allievex Corporation
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

Summary results
Other publications