Mucopolysaccharidosis Type IIIBNCT02493998
A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
An observational study of Mucopolysaccharidosis Type IIIB and Mucopolysaccharidosis Type 3 B, run by Allievex Corporation at 8 sites in 8 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year to 10 years
- Conditions the study is for
- Mucopolysaccharidosis Type IIIB, Mucopolysaccharidosis Type 3 B, MPS III B
- How many people
- 22 participants
- Where
- 8 sitesin 8 countries
- Study dates
- Nov 2015to Apr 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 10 years
- All sexes
- No healthy volunteers
- Child
Study population: Study Population: Subjects diagnosed with MPS IIIB Males and females 1 through 10 years of age (ie, until they turn 11) with a documented diagnosis of MPS IIIB are eligible to participate in this observational study. Up to approximately 5 subjects 6 to 10 years old, inclusive, will be enrolled; the remaining subjects will be 1 to 5 years old, inclusive. Additional entry criteria follow.
Who may be able to join
- 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
Who cannot join
- 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
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- 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.
Trial locations and contacts
8 sites in 8 countries.
8 sites in 8 countries
United States1 site
Children's Hospital and Research Center Oakland
Oakland, California, 94609
Germany1 site
University Medical Center Hamburg Eppendorf, Department of Pediatrics
Hamburg
United Kingdom1 site
Somers Clinical Research Facility, Great Ormond Street Hospital
London
About this study
Official title: A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
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.
Read the detailed description
This is a multicenter, multinational, longitudinal, observational study in subjects 1 through 10 years of age who have been diagnosed with MPS IIIB. Data will be prospectively collected from 20 to 30 subjects to understand the clinical progression of MPS IIIB in terms of neurocognitive function, behavior, quality of life, imaging characteristics, genotype, and biochemical markers of disease burden. This information may help inform the design and interpretation of subsequent interventional studies.
- Keywords
- Sanfilippo Syndrome Type B
- Medical subject headings
- Mucopolysaccharidosis III
What is being measured
The primary outcome is the main question the study is designed to answer.
Neurocognitive function
A neurodevelopmental assessment will be performed using standardized developmental tests to provide quantifiable measures of neurocognitive function.
Measured: Screening, baseline, and every 12 weeks, for up to 48-96 weeks
Imaging characteristics
MRI will be used to assess changes in size of various organs affected by the disease, including brain, liver and spleen.
Measured: Baseline and every 24 weeks, for up to 48-96 weeks
Behavioral function
Disease-related behaviors will be assessed using an MPS III-specific behavior rating scale.
Measured: Baseline and every 12 weeks, for up to 48-96 weeks
Hearing
The function of conductive and sensorineural hearing pathways will be assessed using tympanometry and auditory brainstem response (ABR).
Measured: Baseline and every 24 weeks, for up to 48-96 weeks
Sleep habits
Patient sleep habits will be assessed using specific questionnaires.
Measured: Baseline and every 24 weeks, for up to 48-96 weeks
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.
Measured: Baseline and every 24 weeks, for up to 48-96 weeks
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.
Measured: Baseline and every 24 weeks, for up to 48-96 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jul 2015 (estimated)
- Study startNov 2015
- Primary completionApr 2019
- Study completionApr 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Mucopolysaccharidosis Type IIIBStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 22 participants (actual)
Sponsor and investigators
- Lead sponsor
- Allievex Corporation
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Allievex Medical Monitor, Study director, Allievex Corporation
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02493998
- Sponsor's protocol ID
- 250-901
- Status last verified
- Mar 2020
- First submitted
- 22 Jun 2015
- Last updated
- 6 Mar 2020
- Results posted
- No
- Data monitoring committee
- No
Publications
Okur I, Ezgu F, Giugliani R, Muschol N, Koehn A, Amartino H, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Peters H, Lee J, Nestrasil I, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB. J Pediatr. 2022 Oct;249:50-58.e2. doi: 10.1016/j.jpeds.2022.06.005. Epub 2022 Jun 13.
PubMed 35709957
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
- ClinicalTrials.gov ID
- NCT02493998
- Acronym / sponsor ID
- 250-901
- Keywords
- Sanfilippo Syndrome Type B
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 22 participants (actual)
- Lead sponsor
- Allievex CorporationIndustry (pharma, biotech, devices)
- Study start
- Nov 2015 (actual)
- Primary completion
- Apr 2019 (actual)
- Study completion
- Apr 2019 (actual)
- First posted
- 10 Jul 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This is a multicenter, multinational, longitudinal, observational study in subjects 1 through 10 years of age who have been diagnosed with MPS IIIB. Data will be prospectively collected from 20 to 30 subjects to understand the clinical progression of MPS IIIB in terms of neurocognitive function, behavior, quality of life, imaging characteristics, genotype, and biochemical markers of disease burden. This information may help inform the design and interpretation of subsequent interventional studies.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 year to 10 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Study Population: Subjects diagnosed with MPS IIIB Males and females 1 through 10 years of age (ie, until they turn 11) with a documented diagnosis of MPS IIIB are eligible to participate in this observational study. Up to approximately 5 subjects 6 to 10 years old, inclusive, will be enrolled; the remaining subjects will be 1 to 5 years old, inclusive. Additional entry criteria follow.
Key inclusion criteria (7 listed)
- 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.
Key exclusion criteria (9 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Neurocognitive function
Time frame: Screening, baseline, and every 12 weeks, for up to 48-96 weeks
A neurodevelopmental assessment will be performed using standardized developmental tests to provide quantifiable measures of neurocognitive function.
Imaging characteristics
Time frame: Baseline and every 24 weeks, for up to 48-96 weeks
MRI will be used to assess changes in size of various organs affected by the disease, including brain, liver and spleen.
Behavioral function
Time frame: Baseline and every 12 weeks, for up to 48-96 weeks
Disease-related behaviors will be assessed using an MPS III-specific behavior rating scale.
Hearing
Time frame: Baseline and every 24 weeks, for up to 48-96 weeks
The function of conductive and sensorineural hearing pathways will be assessed using tympanometry and auditory brainstem response (ABR).
Sleep habits
Time frame: Baseline and every 24 weeks, for up to 48-96 weeks
Patient sleep habits will be assessed using specific questionnaires.
Quality-of-life
Time frame: Baseline and every 24 weeks, for up to 48-96 weeks
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.
Biochemical, Molecular, Cellular and Genetic Markers of Disease Burden
Time frame: Baseline and every 24 weeks, for up to 48-96 weeks
Blood, urine, and CSF samples will be used to evaluate biochemical, molecular cellular, and genetic/genomic aspects of MPS IIIB.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2020.
- Derived from this study: PubMed 35709957Okur I, Ezgu F, Giugliani R, Muschol N, Koehn A, Amartino H, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Peters H, Lee J, Nestrasil I, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB. J Pediatr. 2022 Oct;249:50-58.e2. doi: 10.1016/j.jpeds.2022.06.005. Epub 2022 Jun 13.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Allievex Medical Monitor study director
Allievex Corporation
8 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidosis Type IIIB and Mucopolysaccharidosis Type 3 B, run by Allievex Corporation at 8 sites in 8 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Mar 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 sites in United States, Australia, Colombia, Germany, Spain and 3 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Neurocognitive function (time frame: Screening, baseline, and every 12 weeks, for up to 48-96 weeks). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02493998, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Mar 2020; AzTrials last refreshed its copy on 7 Nov 2026.