Trials / Terminated
TerminatedNCT01963650
Natural History Study of Children With Metachromatic Leukodystrophy
- Status
- Terminated
- Phase
- —
- Study type
- Observational
- Enrollment
- 1 (actual)
- Sponsor
- Shire · Industry
- Sex
- All
- Age
- 12 Years
- Healthy volunteers
- Not accepted
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 description
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.
Conditions
- Lipid Metabolism Disorders
- Metachromatic Leukodystrophy (MLD)
- Nervous System Diseases
- Brain Diseases
- Central Nervous System Diseases
- Demyelinating Diseases
- Metabolism, Inborn Errors
- Genetic Diseases, Inborn
- Sphingolipidoses
- Hereditary Central Nervous System Demyelinating Diseases
- Metabolic Inborn Brain Diseases
- Lysosomal Storage Diseases
- Metabolic Diseases
- Sulfatidosis
Timeline
- Start date
- 2015-11-02
- Primary completion
- 2016-04-08
- Completion
- 2016-04-08
- First posted
- 2013-10-16
- Last updated
- 2021-03-17
Locations
14 sites across 10 countries: United States, Argentina, Belgium, Brazil, Canada, Denmark, France, Germany, Japan, Turkey (Türkiye)
Source: ClinicalTrials.gov record NCT01963650. Inclusion in this directory is not an endorsement.