A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

Mucopolysaccharidosis Type IIIB Clinical Trial

Official title:

A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02493998
• Other study ID #: 250-901
• Status: Completed
• Start date: November 2015
• Est. completion date: April 2019

Study information

• Verified date: March 2020
• Source: Allievex Corporation
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 22
• Est. completion date: April 2019
• Est. primary completion date: April 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Year to 10 Years

Eligibility

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

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.

Related Conditions & MeSH terms

• MPS 3 B
• MPS III B
• Mucopolysaccharidoses
• Mucopolysaccharidosis III
• Mucopolysaccharidosis Type 3 B
• Mucopolysaccharidosis Type IIIB

Locations

Country	Name	City	State
Australia	Melbourne Children's Trials Centre	Melbourne	Victoria
Colombia	Fundacion Cardioinfantil-Instituto de Cardiologia	Bogota
Germany	University Medical Center Hamburg Eppendorf, Department of Pediatrics	Hamburg
Spain	Hospital Clinico Universitario de Santiago	Santiago de Compostela
Taiwan	MacKay Memorial Children's Hospital	Taipei
Turkey	Gazi University Faculty of Medicine	Ankara
United Kingdom	Somers Clinical Research Facility, Great Ormond Street Hospital	London
United States	Children's Hospital and Research Center Oakland	Oakland	California

Sponsors (1)

Lead Sponsor	Collaborator
Allievex Corporation

Countries where clinical trial is conducted

United States,  Australia,  Colombia,  Germany,  Spain,  Taiwan,  Turkey,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Neurocognitive function	A neurodevelopmental assessment will be performed using standardized developmental tests to provide quantifiable measures of neurocognitive function.	Screening, baseline, and every 12 weeks, for up to 48-96 weeks
Primary	Imaging characteristics	MRI will be used to assess changes in size of various organs affected by the disease, including brain, liver and spleen.	Baseline and every 24 weeks, for up to 48-96 weeks
Primary	Behavioral function	Disease-related behaviors will be assessed using an MPS III-specific behavior rating scale.	Baseline and every 12 weeks, for up to 48-96 weeks
Primary	Hearing	The function of conductive and sensorineural hearing pathways will be assessed using tympanometry and auditory brainstem response (ABR).	Baseline and every 24 weeks, for up to 48-96 weeks
Primary	Sleep habits	Patient sleep habits will be assessed using specific questionnaires.	Baseline and every 24 weeks, for up to 48-96 weeks
Primary	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.	Baseline and every 24 weeks, for up to 48-96 weeks
Primary	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.	Baseline and every 24 weeks, for up to 48-96 weeks