Kaushik P, Bhalla S, Jain A
PAREXEL, Chandigarh, India

OBJECTIVES: To identify patient‑reported outcomes (PROs) evaluating quality of life (QoL) in Gaucher Disease (GD) after formation of Rare-Diseases Program in 2010 by the Center for Drug Evaluation and Research under United States Food and Drug Administration with a mission to acknowledge patient's perceptions on treatment benefits. METHODS: Embase® and MEDLINE®databases were searched from January 2010 to May 2015. Studies published in English language were included irrespective of study designs by two independent reviewers with discrepancies reconciled by a third independent reviewer. RESULTS: Out of 325 studies retrieved from biomedical databases, only nine studies reporting seven different PRO instruments were included. Details of study conduct were adequately reported with no significant difference between treatment groups. Six generic instruments were identified from the included studies, Short Form Health Survey with 36‑items (SF-36; 5 studies), 12‑items (SF-12; 1 study), the European Quality of Life - Five Dimensions (EQ-5D; 2 studies), Functional Assessment of Chronic Illness Therapy - Fatigue (FACT-F; 1 study), Brief Pain Inventory (BPI; 1 study), and the Visual Analogue Scale (VAS; 1 study). Only one study used the disease‑specific Type 1 Gaucher Disease - Disease Severity Scoring System (GD-DS3) providing a reliable method of assessing both intra- and inter-patient severity indicating an impact of pain on the QoL. Overall, the results correlated with clinical outcomes in GD patients demonstrating poorer physical functioning than healthy controls. A review of HTA submissions showed that current evidence on QoL was not sufficient to assess disease impact with the French HTA agency (HAS) particularly encouraging the need to assess QoL to support evidence on treatment effects. CONCLUSIONS: Variability in use of PRO instruments was seen among the included studies. Disease specific PRO measures are highly acceptable and need to be developed in orphan disease for better evaluation of QoL.

Conference/Value in Health Info

2015-11, ISPOR Europe 2015, Milan, Italy

Value in Health, Vol. 18, No. 7 (November 2015)




Patient-Centered Research

Topic Subcategory

Patient-reported Outcomes & Quality of Life Outcomes


Rare and Orphan Diseases

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