The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.

ABSTRACT:

Introduction

Type 1 GM1 gangliosidosis is an ultra-rare, rapidly fatal lysosomal storage disorder, with life expectancy of <3 years of age. To date, only one prospective natural history study of limited size has been reported. Thus, there is a need for additional research to provide a better understanding of the progression of this disease. We have leveraged the past two decades of medical literature to conduct the first comprehensive retrospective study characterizing the natural history of Type 1 GM1 gangliosidosis.

Objectives

The objectives of this study were to establish a large sample of patients from the literature in order to identify: 1) clinically distinguishing factors between Type 1 and Type 2 GM1 gangliosidosis, 2) age at first symptom onset, first hospital admis

SUBMITTER: Lang FM 

PROVIDER: S-EPMC7093236 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature