Infantile Krabbe disease (0-12 months), progression, and recommended endpoints for clinical trials.

ABSTRACT:

Objective

Krabbe disease is due to deficiency of galactocerebrosidase, resulting in progressive neurodegeneration due to demyelination. The purpose of this study is to document disease progression in the newly classified infantile-onset (0-12 months). We evaluated the outcomes of hematopoietic stem cell transplantation (HSCT) and described meaningful clinical endpoints.

Methods

Patients with infantile Krabbe disease were prospectively evaluated between 2000 and 2022. All patients underwent comprehensive and standardized protocols. Descriptive statistics and Kaplan-Meier survival curves were used for analysis.

Results

One hundred and thirty-seven children with infantile Krabbe disease were included (68 males and 69 females). Of the 137, 96 were not treated and 41 under

SUBMITTER: Greco MR 

PROVIDER: S-EPMC11651195 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature