Metachromatic Leukodystrophy Progression Study

Natural History Study of Children with Metachromatic Leukodystrophy

Protocol Description

The purpose of this natural history study is to better understand effects of early infantile metachromatic leukodystrophy (MLD) on motor function, body development and behavior of young children over time. MLD is a rare inherited disorder of lipid metabolism that affects the nervous system. This condition leads to severe and progressive dysmyelination. Researchers hope that information from this study will help doctors learn more about MLD and provide important insights into how MLD affects the body.

Eligibility Criteria

Subject to certain exclusion criteria, this study is open to children of both genders, under 12 years of age, who have a confirmed diagnosis of MLD and had symptoms at or before they were 30 months old.
Boys and Girls: Up to 12 years old

Requirements

Patients enrolled in this study will be given a comprehensive physical examination, neurological tests, and assessments of cognitive, language, and motor development at specific intervals. Following the initial screening and baseline visits, most study visits will occur over one or two days approximately every 12 to 14 weeks. At certain intervals brain imaging will be done and biologic samples (blood, urine, spinal fluid) will be collected.
Visits: 11
Duration: Up to 2 years

Status: Open to Enrollment

Source(s) of Support

Shire Human Genetic Therapies, Inc.

Primary Investigator

Maria L. Escolar, MD, MS

Contact Information

For more information about the study or enrollment, please contact:
Program Coordinator
Mary Brannaman, MPA, BS
412-692-6350