MPS IIIB (Sanfilippo B Syndrome)
Conditions
Keywords
MPS IIIB, Mucopolysaccharidosis, Mucopolysaccharidosis type IIIB, Sanfilippo Syndrome Type B
Brief summary
The objectives of this study are to describe the clinical and biochemical characteristics and course of disease progression in participants with Mucopolysaccharidosis type IIIB (MPS IIIB)
Interventions
None listed
Sponsors
Alexion Pharmaceuticals, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Years to No maximum
Healthy volunteers
No
Inclusion criteria
A participant must meet all of the following inclusion criteria to be eligible for this study: 1. The participant has a definitive diagnosis of MPS IIIB, as determined by either of the following: 1. Documented deficiency in alpha-N-acetyl-glucosaminidase (NAGLU) enzyme activity or 2. Documented functionally-relevant mutations in both alleles of the NAGLU gene. 2. The participant is at least 1 year of age (biological age). 3. The participant or the participant's parent provides informed consent. 4. The participant is willing and able to comply with protocol requirements to the extent that may be expected of a participant with cognitive impairment. In addition to the eligibility criteria above, a participant must meet all of the following criteria for Component 2: 1. The participant meets criterion a or criterion b below. a. The participant is considered to be at risk of rapid disease progression based on at least 1 of the following criteria: i. The participant has documented mutations of the NAGLU gene that are reported to be linked to rapid disease progression (for example, disease onset before 6 years of age), or ii. The participant has a sibling, or other first- or second-degree relative with rapidly progressing MPS IIIB (for example, disease onset before 6 years of age). b. The participant had disease onset prior to 6 years of age (biological age), as defined by: i. Cognitive delay evaluated by Bayley Scales of Infant Development, Third Edition (BSID-III) or Kaufman Assessment Battery for Children, Second Edition (KABC-II), or ii. Language delay, plateauing, or regression of language skills as determined by the Investigator (for example, participant uses isolated words, associated words such as 2-word combinations, sentences, poor or reduced language, and/or difficult to understand). 2. The participant has an age equivalent of ≥1 year on the Vineland Adaptive Behavior Scales, Second Edition (Vineland II).
Exclusion criteria
A participant who meets any of the following
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Collection And Analysis Of Clinical Characteristics Of MPS IIIB | Baseline to Week 43 | Component 1 involved an evaluation of the clinical characteristics of MPS IIIB in participants based on a retrospective chart review to collect information on demographics, clinical history, diagnostic tests, treatments, clinical chemistry and hematology test results, physical examination findings, anthropometric data, radiology results, and supportive interventions performed over a period of up to 6 weeks. |
| Longitudinal Analysis Of The Course Of Disease Progression In Participants With MPS IIIB | Baseline to Week 43 | Component 2 involved a longitudinal evaluation of the course of disease progression in a subset of participants considered to be at risk of rapid disease progression, who, after completing Component 1, were to be prospectively followed for a period of at least 1 year (Longitudinal Follow-Up) and up to 3 years total (Extended Follow-Up). |
Countries
Brazil, Italy, Portugal, Spain, United Kingdom, United States
Outcome results
None listed