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.
Study Type
OBSERVATIONAL
Enrollment
1
Harbor UCLA Pediatrics
Torrance, California, United States
Children's National Health System
Washington D.C., District of Columbia, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States
Children's Hospital Of Pittsburgh
Pittsburgh, Pennsylvania, United States
Hospital Universitario Austral
Pilar, Argentina
Universitair Ziekenhuis Antwerpen (UZA) (University Hospital Antwerpen)
Edegem, Belgium
Hospital de Cllnicas de Porto Alegre (HCPA) / UFRGS
Porto Alegre, Brazil
Montreal Children's Hospital
Westmount, Canada
Copenhagen University Hospital, Rigshospitalet
Copenhagen, Denmark
Hôpital De Bicêtre
Le Kremlin-Bicêtre, France
...and 4 more locations
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
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