Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3).

ABSTRACT:

Background

GD1-DS3 is an integrated assessment of type 1 Gaucher disease (GD1) burden based on bone, hematologic and visceral domains. We investigated this disease severity scoring system (DS3) methodology for initial assessment, long-term follow-up and evaluation of treatment responses.

Methods

We enrolled 133 treated adult GD1 patients. Baseline DS3 scores were calculated near the initial treatment date and patients stratified by severity as marked (DS3 6.00-19.00), moderate (DS3 3.00-5.99), mild (DS3 < 3.00). Follow-up scores were calculated annually. Minimal clinically important improvement (MCII), is defined as ΔDS3 of -3.1.

Results

Patient characteristics

N370S was the most common allele (118 patients had at least one), 52 were N370S/N370S (48/52 were As

SUBMITTER: Weinreb NJ 

PROVIDER: S-EPMC4471923 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature