2. Mehta A., et al. Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative. Internal Medicine Journal. 49 (2019) 578–591
3. Charrow J., et al. The Gaucher Registry Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease. Arch Intern Med 2000;160:2835-2843.
4. Kaplan P., et al. The Clinical and Demographic Characteristics of Nonneuronopathic Gaucher Disease in 887 Children at Diagnosis. Arch Pediatr Adolesc Med. 2006;160:603-608
5. Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: Past, present and futureMol Genet Metab 2011;104:438.
6. https://data.health.gov.il/drugs/index.html#!/medDetails/119%2065%2029980%2001 (Accessed September 21,2020)
7. https://www.cerezyme.com/ (Accessed September 21st, 2020)
8. Kauli R., et al. Delayed Growth and Puberty in Patients with Gaucher DiseaseType 1: Natural History and Effect of Splenectomy and/or Enzyme Replacement Therapy. Isr Med Assoc J. 2000 Feb;2(2):158-63
9. Anderson H., et al. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1 Pediatrics. 2008;122(6):1182-1190.
10. Weinreb NJ et al. Effectiveness of Enzyme Replacement Therapy in1028 Patients with Type 1 Gaucher Disease after 2 to 5 Years of Treatment: A Report from the Gaucher RegistryAm J Med 2002;113:112;
11. Charrow J et al. The effect of enzyme replacement therapyon bone crisis and bone pain in patients with type 1 Gaucher disease Clin Genet 2007;71:205
12. Sims KB., et al. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease:results of a 48-month longitudinal cohort study Clin Genet 2008;73:430;
13. Weinreb NJ., Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment et al. J Inherit Metab Dis 2013;36:543
14. Mistry PK., et al. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry Am J Hematol 2017;92:929
15. https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&varApplNo=205494 (Accessed September 21st
16. https://www.ema.europa.eu/en/medicines/human/EPAR/cerdelga (Accessed September 21st)
17. https://data.health.gov.il/drugs/index.html#!/medDetails/157%2056%2034703%2000 (Accessed September 21st)
18. Cerdelga IL prescribing information as approved/ updated in accordance with the instructions of the Ministry of Health
19. Cox TM.,et al. Eliglustat compared with imiglucerase in patients with Gaucher’s disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label,non-inferiority trial.
20. Cox TM.,et al. Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy Blood. 2017;129(17):2375-2383
21. Mistry P.K., et al Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1 The ENGAGE Randomized Clinical Trial. JAMA. 2015;313(7):695-706
22. Lukina E., et al. Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial. Am J Hematol. 2019 Jan;94(1):29-38.
*Cerezyme is indicated for the long term enzyme replacement therapy for patients with a confirmed diagnosis of Type 1 gaucher disease that results in one or more of the following conditions: - Anemia - Thrombocytopenia - Bone disease - Hepatomegaly or splenomegaly.
**Cerdelga is indicated for the long-term treatment of adult patients with Gaucher disease type 1 (GD1), who are CYP2D6 poor metabolisers (PMs), intermediate metabolisers (IMs) or extensive metabolisers (EMs).
יש לעיין בעלון לרופא המעודכן כפי שאושר בהתאם להוראות משה" ב
