Infantile gangliosidoses: Mapping a timeline of clinical changes.

ABSTRACT:

Background

Infantile gangliosidoses include GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease). To date, natural history studies in infantile GM2 (iGM2) have been retrospective and conducted through surveys. Compared to iGM2, there is even less natural history information available on infantile GM1 disease (iGM1). There are no approved treatments for infantile gangliosidoses. Substrate reduction therapy using miglustat has been tried, but is limited by gastrointestinal side effects. Development of effective treatments will require identification of meaningful outcomes in the setting of rapidly progressive and fatal diseases.

Objectives

This study aimed to establish a timeline of clinical changes occurring in infantile gangliosidoses, prospectivel

SUBMITTER: Jarnes Utz JR 

PROVIDER: S-EPMC5727905 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature