A Prospective Cross-Sectional and Longitudinal Study With Additional Retrospective Chart Review to Evaluate Clinical and Biochemical Characteristics and Disease Progression in Patients With Mucopolysaccharidosis Type IIIB
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- MPS IIIB (Sanfilippo B Syndrome)
- Sponsor
- Alexion Pharmaceuticals, Inc.
- Enrollment
- 30
- Primary Endpoint
- Collection And Analysis Of Clinical Characteristics Of MPS IIIB
- Status
- Terminated
- Last Updated
- 7 years ago
Overview
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)
Investigators
Eligibility Criteria
Inclusion Criteria
- •A participant must meet all of the following inclusion criteria to be eligible for this study:
- •The participant has a definitive diagnosis of MPS IIIB, as determined by either of the following:
- •Documented deficiency in alpha-N-acetyl-glucosaminidase (NAGLU) enzyme activity or
- •Documented functionally-relevant mutations in both alleles of the NAGLU gene.
- •The participant is at least 1 year of age (biological age).
- •The participant or the participant's parent provides informed consent.
- •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:
- •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:
Exclusion Criteria
- •A participant who meets any of the following exclusion criteria will be ineligible for this study:
- •The participant has visual or hearing impairments sufficient to preclude cooperation with neurodevelopmental testing.
- •The participant has a history of poorly-controlled seizure disorder.
- •The participant is currently receiving medication, which, in the Investigator's opinion, would be likely to substantially confound interpretation of the results (for example, the participant has been on the current dose of psychotropic medication for less than 3 months).
- •The participant is receiving a newly increased dose of melatonin (for example, less than 3 months on current dose).
- •The participant has previously received an investigational therapy for MPS IIIB (with the exception of high dose Genistein \>150 milligram/kilogram (mg/kg)/day, which will require a minimum of 3 months wash-out before entering the study) or has had hematopoietic stem cell transplant (HSCT).
- •The participant has any other prior or ongoing medical condition that may present a safety risk, interfere with study compliance, or confound data interpretation.
Outcomes
Primary Outcomes
Collection And Analysis Of Clinical Characteristics Of MPS IIIB
Time Frame: 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
Time Frame: 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).