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Minimum recommendations for assessments in children with Gaucher disease type 1 (GD1)

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(a) MRI should include sagittal T1-weighted scan of the spine and T1-weighted scan of the head of the femur. (b) DXA should include spine and total body Z-scores, which require comparison with age- and gender-specific norms. (c) If baseline results are normal there is no need for follow-up within 6 months. (d) The recommended frequency is every 12 months for nonsymptomatic patients not receiving ERT, every 6 months for patients receiving ERT who are not yet meeting therapeutic goals, and every 6 to 12 months for patients receiving ERT who are meeting therapeutic goals. (e) The recommended frequency is every 24 months for nonsymptomatic patients not receiving ERT, every 12 months for patients receiving ERT who are not yet meeting therapeutic goals, and every 12 to 24 months for patients receiving ERT who are meeting therapeutic goals. (f) The recommended frequency for DXA is every 24 to 36 months, or less frequently if deemed appropriate based on clinical course and response to treatment.

Abbreviations: DXA, dual-energy x-ray absorptiometry; ERT, enzyme replacement therapy; GD1, Gaucher disease type 1; GD3, Gaucher disease type 3; HRQoL, health-related quality of life; lyso-Gb1, glucosylsphingosine; MRI, magnetic resonance imaging; PedsQL, Pediatric Quality of Life Inventory; PT, prothrombin time; PTT, partial thromboplastin time; SF-36, 36-item Short-Form Health Survey.

(Source: Weinreb NJ, Goker-Alpan O, Kishnani PS, et al. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab 2022;136[1]:4-21. Adapted from: Kaplan P, Baris H, De Meirleir L, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr 2013;172[4]:447-58. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)