An observational study in Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD) and Nervous System Diseases, sponsored by Shire. Terminated at 14 sites in 10 countries. Open to participants aged Up to 12 Years. Per ClinicalTrials.gov, last updated 2021-03-17.
Sponsored by Shire · Observational
The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).
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.
974 studies on the registry are indexed under Nervous System Diseases; 252 are open to participants now.
This study's enrollment of 1 is below the median of 127 across 318 observational studies indexed under Nervous System Diseases.
Browse Nervous System Diseases studies →Shire is the lead sponsor of 346 studies on the registry; 2 are open to participants now.
Of its 47 completed or terminated interventional studies of FDA-regulated products, 47 (100%) have results posted.
Counted across the registry records on this site, refreshed daily.
This study will enroll up to 30 male or female children (\<12 years of age) with a confirmed MLD diagnosis.
Confirmed diagnosis of MLD by both:
Exclusion Criteria:
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
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
This study is terminated, as verified in Mar 2021. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Shire