# The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea

## TL;DR

A new scoring system for early detection of Gaucher disease in children and young adults shows high accuracy in Korean patients.

## Contribution

The GED-C point-scoring system is validated for early diagnosis of Gaucher disease in pediatric and young adult populations.

## Key findings

- The GED-C PSS achieved high sensitivity (1.0) and specificity (0.97) with a cutoff of 6.5.
- Two confirmed Gaucher disease patients had distinct PSS scores from other participants.
- The system is applicable across a wide age range (1 month to 40 years).

## Abstract

Gaucher disease (GD) is an autosomal recessive condition caused by insufficient glucocerebrosidase activity. The Gaucher Earlier Diagnosis Consensus (GED-C) initiative created a point-scoring system (PSS) to facilitate the early identification of GD based on significant indicators and covariables. This study aimed to evaluate the applicability and utility of the GED-C PSS in pediatric and young adult patients in Korea.

This study included both retrospective analysis and prospective recruitment. Subject recruitment involved 14 sites across 13 hospitals in Korea, where patients of any age meeting GED-C criteria were recruited, and blood samples were collected. Data of 513 subjects were analyzed and two patients were confirmed to have GD during prospective enrollment. The median age of participants was 10 years (range: 1 month to 40 years). Receiver operating characteristic analysis revealed a cutoff point of 6.5 for GED-C PSS (area under the curve of 0.9883) demonstrated high sensitivity (1.0) and specificity (0.97). A histogram indicated that the PSS scores of the two confirmed GD patients were distinct from those of other participants.

The study suggests that GED-C PSS shows potential for the early diagnosis of GD, supporting its broader clinical use for both children and adults.