Clinical Trial: Natural History Study to Characterise the Course of Disease Progression in Patients With Mucopolysaccharidosis Type IIIB

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational

Official Title: A Prospective Cross-Sectional and Longitudinal Study With Additional Retrospective Chart Review to Evaluate Clinical and Biochemical Characteristics and Disease Progression in Patients With

Brief Summary: The objectives of this study are to describe the clinical and biochemical characteristics and course of disease progression in patients with MPS IIIB

Detailed Summary:
Sponsor: Alexion Pharmaceuticals

Current Primary Outcome: Evaluation of the course of disease progression in patients with MPS IIIB as measured by medical history data and prospective clinical, biochemical and neurocognitive assessments. [ Time Frame: component 1 (maximum 6 weeks), component 2 (6 monthly assessments, up to 3 years) ]

Original Primary Outcome: Evaluation of the course of disease progression in patients with MPS IIIB as measured by medical history data and prospective clinical, biochemical and neurocognitive assessments. [ Time Frame: component 1 (maximum 6 weeks), component 2 (6 monthly assessments, up to 3 years) ]

An understanding of how the disease presents and progresses will be assessed from retrospective chart review of medical history data including: disease manifestation onset, diagnostic tests, treatments for MPS IIIB, supportive interventions/medications, clinical chemistry and heamatology, anthropometric data and radiology results.

The clinical characteristics and progression of MPS IIIB in the study population will be evaluated based on observed values (both components) and changes over time (Component 2 only) in the following parameters:

  • Neurocognitive and developmental function as determined by the patient's scores on the Vineland II and as appropriate to age equivalent, the BSID-III, KABC-II, BOT-2 brief, CCC-2 and SBRS.
  • assessment of sleep disorders, patient and caregiver quality of life.
  • Physical and ENT examination.
  • Analysis of changes of facial features.
  • Clinical laboratory tests, including heparan sulfate, exploratory disease biomarkers.


Current Secondary Outcome:

Original Secondary Outcome:

Information By: Alexion Pharmaceuticals

Dates:
Date Received: November 3, 2014
Date Started: September 2014
Date Completion: April 2018
Last Updated: June 23, 2016
Last Verified: October 2015