Treating Gaucher disease type 1

Gaucher disease type 1 can be effectively managed with treatment, including oral therapy. Therapy has been shown to help reduce and relieve certain signs and symptoms of Gaucher disease type 1. The goal of treatment is to reduce or prevent the buildup of GL-1.1,2

Maximizing therapeutic goals

Gaucher disease requires an individualized disease management model that takes into account the progressive nature of disease and the severity of clinical manifestations. Generally, pre-emptive therapy before irreversible complications occur can be more effective than a “watchful waiting” approach.3

Treatment options for gaucher disease type 1
Substrate reduction therapy (SRT) : Noninvasive oral capsule
Substrate reduction therapy (SRT): Noninvasive oral capsule

SRT reduces glycolipid accumulation by decreasing the synthesis of glucocerebroside, the substrate of the deficient enzyme. The residual enzyme is then able to handle the decreased amount of lipids produced.2,4 Learn more about one SRT option »

Enzyme replacement therapy (ERT): Infusion
Enzyme replacement therapy (ERT): Infusion

By adding more of the enzyme needed to break down GL-1, ERT catalyzes the hydrolysis of glucocerebroside, reducing the build-up of GL-1.2,5 There are several treatments currently available. Learn more about one ERT option »

The importance of regular monitoring

Because Gaucher disease type 1 follows a progressive and unpredictable course, regular monitoring is important.6 The following recommendations are for adult Gaucher disease type 1 patients.

Chart showing how Gaucher disease type 1 follows a progressive and often unpredictable course

Abbreviations: ACE, angiotensin-converting enzyme; ALT, alanine aminotransferase; AP, anteroposterior; AST, aspartate aminotransferase; CT, computed tomography; DEXA, dual-energy X-ray absorptiometry; ECG, electrocardiogram; MRI, magnetic resonance imaging; PT, prothrombin time; PTT, partial thromboplastin time; TRAP, tartrate-resistant acid phosphatase; WBC, white blood cell.

i. One or more of these biochemical markers should be consistently monitored at least every 12 months and in conjunction with other clinical assessments of disease activity and response to treatment. Of the three recommended markers, chitotriosidase, when available as a validated procedure from an experienced laboratory, may be the most sensitive indicator of changing disease activity, and is therefore preferred.

ii. Obtain contiguous transaxial 10 mm-thick sections for sum of region of interest

iii. Anatomical sites not included here should be evaluated if symptoms develop in such locations.

iv. A comprehensive physical examination should be performed at least annually.

v. AP view of the entire femora (optimally from hips to below knees), and lateral view of the spine.

vi. Optional in absence of new symptoms or evidence of disease progression.

Once a diagnosis of Gaucher disease is made, you and your patient will determine the right treatment approach. The Sanofi Genzyme CareConnectPSS® team is here to help your patient learn more about Gaucher disease, treatment, and ongoing management. Visit CareConnectPSS.com.

Gaucher disease is an inherited condition

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References: 1. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biol Targets Ther. 2010;4:299-313. 2. Pastores GM, Hughes DA. Gaucher disease. GeneReviews®. Seattle WA: NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK1269/?report=printable. Published July 27, 2000. Updated June 21, 2018. Accessed July 2, 2018. 3. Mistry PK, Capellini MD, Lukina E, et al. Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115. 4. Shayman JA. Eliglustat tartrate: glucosylceramide synthase inhibitor treatment of type 1 Gaucher disease. Drugs Future. 2010;35(8):613-620. 5. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2). 6. Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol. 2004;41(suppl 5):15-22.