The use of patient-reported outcome measures (PROM) specific to type 1 Gaucher disease (GD1) appears to capture health-related quality of life (HRQoL)-related issues that may otherwise be missed, according to research published in Orphanet Journal of Rare Diseases.

GD1 has a heterogeneous phenotypic presentation, with some patients experiencing symptoms including thrombocytopenia, anemia, and fatigue, whereas others may be entirely asymptomatic. Although therapy has, in recent years, improved among those with the disease, the HRQoL impact of GD1 and its treatments has not previously been closely evaluated.

PROMs, which rely on the patient to specify symptoms, HRQoL, and functional status, have repeatedly been shown to yield benefits across disease settings. For this study, researchers reported PROM and predictors of PROM among patients with GD1 using a mobile phone version of the survey.

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Overall, 192 of 405 adult patients responded to the mobile phone survey request. The median patient age was 48 years (range, 20 to 91), 111 patients (57.8%) were women, and 133 patients (69.3%) were homozygous for c.1226A>G (N370S) mutation. Of all respondents, 124 (64.5%) had received GD-specific treatment.

Nearly all untreated patients (94%) reported that GD did not interfere with their education or job, while 20% to 30% of treated patients reported that the disease did cause such interference a little or some of the time. Most untreated and treated patients reported that the disease did not interfere with intimate relationships (90% and 76%, respectively) or with fun activities with friends (100% and 90%, respectively).

Patients reported concern that their GD increased their risk for bone disease and Parkinson disease (60%).

Compared with those who had not received treatment, patients who had received therapy for GD were more likely to report fatigue, physical weakness, greater severity of bone pain, and overall worry about their disease (all P <.001).

“Our study confirms that asymptomatic or mildly affected untreated patients with GD1 have good functional status and HRQoL, supporting our practice that not all patients with GD1 require specific therapy,” the authors wrote.

“Electronic validated GD1-PROM, possibly via user-friendly GD-specific mobile applications, should be included among the outcome measures in clinical practice and all future prospective studies for GD.” 

Disclosures: Some authors have declared affiliations with or received funding from the pharmaceutical industry. Please refer to the original study for a full list of disclosures.


Dinur T, Istaiti M, Frydman D, et al. Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease. Orphanet J Rare Dis. 2020;15(1):284. doi:10.1186/s13023-020-01544-z