Clinical Trial: Natural History Study of Children With Metachromatic Leukodystrophy

Study Status: Terminated
Recruit Status: Terminated
Study Type: Observational

Official Title: Natural History Study of Children With Metachromatic Leukodystrophy

Brief Summary: The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).

Detailed Summary:

Metachromatic leukodystrophy (MLD) is an inherited, autosomal recessive disorder of lipid metabolism characterized by deficient activity of the lysosomal enzyme, arylsulfatase A (ASA). MLD is a rare genetic disease that occurs in most parts of the world. The estimated overall incidence of the disease in the western world is approximately 1 in 100,000 live births.

This study is a multicenter, observational, longitudinal study that plans to enroll up to 30 patients with onset of MLD-related signs and symptoms prior to 30 months of age and who are less than 12 years of age. Patients will participate in this study for approximately 114 weeks (Screening through Follow-up) and will be assessed at defined intervals for disease status.


Sponsor: Shire

Current Primary Outcome: The primary endpoint of this study is the change from baseline in motor function using the GMFM-88 total (percent) score. [ Time Frame: Week 0 to Week 104 ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

  • The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in nerve conduction as measured by the electroneurography. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior Scales. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in domain-specific Caregiver Observed MLD Functioning and Outcomes Reporting Tool. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in cognitive function using the Mullen Scales of Early Learning. [ Time Frame: Week 0 to Week 104 ]
  • Reporting of any study procedure-related nonserious AEs and/or any SAEs [ Time Frame: Week 0 to Week 114 ]


Original Secondary Outcome:

  • The change from baseline in ability to swallow as assessed by the Functional Endoscopic Evaluation of Swallowing. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in nerve conduction as measured by the electroneurography. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior Scales. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in domain-specific Caregiver Observed MLD Functioning and Outcomes Reporting Tool. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in cognitive function using the Mullen Scales of Early Learning. [ Time Frame: Week 0 to Week 104 ]
  • Reporting of any study procedure-related nonserious AEs and/or any SAEs [ Time Frame: Week 0 to Week 114 ]
  • Change from baseline in CSF, serum, and urine biomarkers. [ Time Frame: Week 0 to Week 104 ]
  • The change from baseline in the total MLD severity score as based on magnetic resonance imaging. [ Time Frame: Week 0 to Week 104 ]
  • Percent change from baseline in the deep white matter of the brain as obtained by magnetic resonance spectroscopy. [ Time Frame: Week 0 to Week 104 ]


Information By: Shire

Dates:
Date Received: October 11, 2013
Date Started: December 2013
Date Completion:
Last Updated: April 19, 2016
Last Verified: April 2016