A Study with additional chart review to evaluate clinical and biochemical characteristics and disease progression in patients with mucopolysaccharidosis type IIIB
- Conditions
- Mucopolysaccharidosis type IIIBE76.2
- Registration Number
- RBR-3rx9fj
- Lead Sponsor
- Hospital de Clínicas de Porto Alegre
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruitment completed
- Sex
- Not specified
- Target Recruitment
- Not specified
Definitive diagnosis of MPS IIIB; at least 1 years of age (biological age) at the time of written informed consent; understands the full nature and purpose of the study, including possible risks of study procedures; informed consent signature.
Visual or hearing impairments sufficient to preclude cooperation with neurodevelopmental testing; history of poorly-controlled seizure disorder; currently receiving medication which, in the Investigator’s opinion, would be likely to substantially confound interpretation of the results, or has been on the current dose of psychotropic medication for less than 3 months; receiving a newly increased dose of melatonin (e.g., less than 3 months on current dose); previously received an investigational therapy for the treatment of MPS IIIB or has had hematopoietic stem cell transplant (HSCT); in the opinion of the Investigator, the patient has any other prior or ongoing medical condition that may present a safety risk, interfere with study compliance, or confound data interpretation.
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Descriptive comparison between patients who do/do not continue participation in the study into Component 2 made by summary of demographic data, selected medical history information, and baseline clinical and biochemical characteristics for all patients, after Component 1 of the study conclusion;<br>Description of clinical characteristics, for the subset of patients participating in Component 2, made by summary of the observed values and changes from baseline over time, after study conclusion
- Secondary Outcome Measures
Name Time Method Secundary outcomes are not expected