Metachromatic Leukodystrophy
Condition Description
Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by genetic changes in the ARSA and PSAP genes.
Active Trials
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TRIAL TITLE: A Study of Intrathecal SHP611 in Participants With Late Infantile Metachromatic Leukodystrophy (Embolden)
DESCRIPTION: The purpose of this study is to evaluate the safety and efficacy of intrathecal (IT) administration of SHP611 on gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with metachromatic leukodystrophy (MLD).
SPONSOR: Takeda
INDICATION: Metachromatic Leukodystrophy (MLD)
STUDY PROTOCOL: SHP611-201
PHASE: 2b OL
STATUS: Active
RECRUITING PATIENTS: No