Late Infantile Metachromatic Leukodystrophy Treatment with Intrathecal SHP611 – Phase II

Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy

Protocol Description

The purpose of this study is to assess the safety and efficacy of the intrathecally-delivered drug SHP611 on gross motor function in babies and young children with late-infantile metachromatic leukodystrophy (MLD). MLD is a rare, genetic, neurodegenerative disease that manifests between 6 months and 2 years of age. In MLD, the body can not properly make an enzyme called arylsulfatase A (ASA). This leads to a loss of myelin, which protects the body's nerves, causing nerve damage that can lead to problems with mobility, speech, and more.

Study Level: Phase II

Eligibility Criteria

Subject to certain inclusion criteria, this study is enrolling participants ages 6 months through 6 years of age who have been diagnosed with LIMLD.
Boys and Girls: Ages 6 months through 6 years of age


Participants will receive SHP611 intrathecally (into the spinal fluid via catheter) once a week for about 4 years. At predetermined intervals during weekly visits for infusions, participants will also receive medical examinations and motor function testing. Imaging (such as an MRI) and biological sample collection may also occur.
Visits: Weekly
Duration: 210 weeks (about 4 years)

Status: Active, not recruiting

Source(s) of Support

Shire Human Genetic Therapies

Primary Investigator

Deepa Soundara Rajan, MD

Contact Information

For more information about the study or enrollment, please contact:
Dawn Kolar, Clinical Research Coordinator