Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Molecular Genetics and Metabolism

Volumn 116, Issue 1-2, 2015, Pages 88-97

  Wasserstein, Melissa P ^a   Jones, Simon A ^b   Soran, Handrean ^c   Diaz, George A ^a   Lippa, Natalie ^a   Thurberg, Beth L ^d   Culm Merdek, Kerry ^e   Shamiyeh, Elias ^e   Inguilizian, Haig ^d   Cox, Gerald F ^d   Puga, Ana Cristina ^d  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^d GENZYME CORPORATION   (United States)

^e SANOFI   (France)

Author keywords

Dose escalation; Niemann Pick disease type B; Nonneuronopathic ASMD; Olipudase alfa; Recombinant human acid sphingomyelinase

Indexed keywords

CERAMIDE; CHITOTRIOSIDASE; OLIPUDASE ALFA; SPHINGOMYELIN PHOSPHODIESTERASE; BIOLOGICAL MARKER; LIPID; RECOMBINANT PROTEIN; SPHINGOMYELIN;

ABDOMINAL PAIN; ACUTE PHASE RESPONSE; ADULT; ARTHRALGIA; ARTICLE; CLINICAL ARTICLE; DRUG BLOOD LEVEL; DRUG DOSE ESCALATION; DRUG DOSE REDUCTION; DRUG HALF LIFE; ENZYME ACTIVITY; FEMALE; HEADACHE; HEMATOLOGY; HEPATOSPLENOMEGALY; HUMAN; LIPID BLOOD LEVEL; LIVER WEIGHT; LUNG DISEASE; MALE; MUSCULOSKELETAL PAIN; NAUSEA; NIEMANN PICK DISEASE; PHASE 1 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; QUALITY OF LIFE ASSESSMENT; SPLEEN; THROMBOCYTE COUNT; ADOLESCENT; AGED; BLOOD; CLINICAL TRIAL; DOSE RESPONSE; DRUG EFFECTS; ENZYME REPLACEMENT; LIVER; LUNG; METABOLISM; MIDDLE AGED; MULTICENTER STUDY; NIEMANN-PICK DISEASE, TYPE A; PATHOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; BIOMARKERS; DOSE-RESPONSE RELATIONSHIP, DRUG; ENZYME REPLACEMENT THERAPY; FEMALE; HUMANS; LIPIDS; LIVER; LUNG; MALE; MIDDLE AGED; NIEMANN-PICK DISEASE, TYPE A; RECOMBINANT PROTEINS; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOMYELINS; YOUNG ADULT;

EID: 84940891469     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.05.013     Document Type: Article

References (38)

1. Prevalence of rare diseases: bibliographic data listed in order of decreasing prevalence or number of published cases. Orphanet Report Series - Prevalence of Rare Diseases: Bibliographic Data Number 1 May 2014 2014, (http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence:of_rare_diseases_by_alphabetical_list.pdf Accessed April 2015).
2. McGovern M.M., Wasserstein M.P., Giugliani R., et al. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics 2008, 122(2):e341-e349.
3. Schuchman E.H., Desnick R.J. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. OMMBID-The Online Metabolic and Molecular Bases of Inherited Disease 2013, McGraw Hill, New York, (http://ommbid.mhmedical.com/content.aspx?bookid=474&Sectionid=45374145. Accessed April 2015). D. Valle, A. Beaudet, B. Vogelstein, K. Kinzler, S. Antonarakis, A. Ballabio, K. Gibson, G. Mitchell (Eds.).
4. McGovern M.M., Aron A., Brodie S.E., Desnick R.J., Wasserstein M.P. Natural history of type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology 2006, 66(2):228-232.
5. McGovern M.M., Lippa N., Bagiella E., Schuchman E.H., Desnick R.J., Wasserstein M.P. Morbidity and mortality in type B Niemann-Pick disease. Genet. Med. 2013, 15(8):618-623.
6. Wasserstein M.P., Desnick R.J., Schuchman E.H., et al. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 2004, 114(6):e672-e677.
7. Wasserstein M., Godbold J., McGovern M.M. Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. J. Inherit. Metab. Dis. 2013, 36(1):123-127.
8. Miranda S.R., He X., Simonaro C.M., et al. Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. FASEB J. 2000, 14(13):1988-1995.
9. Murray J.M., T., A.M., Vitsky A., Hawes M., Chuang W-L., Pacheco J., Wilson S., McPherson J.M., Thurberg B.L., Karey K.P., Andrews L. Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency: The utility of animal models of disease in the toxicological evaluation of potential therapeutics. Mol. Genet. Metab. 2015, 114(2):217-225.
10. McGovern M., Wasserstein M., Kirmse B., et al. Novel first-dose adverse drug reactions during a phase 1 trial of recombinant human acid sphingomyelinase (rhASM) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). Genet. Med. 2015, 10.1038/gim.2015.24.
11. Thurberg B.L., Wasserstein M.P., Schiano T., et al. Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). Am. J. Surg. Pathol. 2012, 36(8):1234-1246.
12. Mendelson D.S., Wasserstein M.P., Desnick R.J., et al. Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology 2006, 238(1):339-345.
13. Miller M.R., Hankinson J., Brusasco V., et al. Standardisation of spirometry. Eur. Respir. J. 2005, 26(2):319-338.
14. Mendoza T.R., Wang X.S., Cleeland C.S., et al. The rapid assessment of fatigue severity in cancer patients: use of the Brief Fatigue Inventory. Cancer 1999, 85(5):1186-1196.
15. Cleeland C.S., Ryan K.M. Pain assessment: global use of the Brief Pain Inventory. Ann. Acad. Med. Singap. 1994, 23(2):129-138.
16. Cleeland C. Pain assessment: the advantages of using pain scales in lysosomal storage diseases. Acta Paediatr. Suppl. 2002, 91(439):43-47.
17. Odze R., Goldblumm J., Crawford J. Surgical Pathology of the GI Tract, Liver, Billiary Tract and Pancreas 2004, Saunders, Philadelphia.
18. Hankinson J.L., Odencrantz J.R., Fedan K.B. Spirometric reference values from a sample of the general U.S. population. Am. J. Respir. Crit. Care Med. 1999, 159(1):179-187.
19. Miller A., Thornton J.C., Warshaw R., Anderson H., Teirstein A.S., Selikoff I.J. Single breath diffusing capacity in a representative sample of the population of Michigan, a large industrial state. Predicted values, lower limits of normal, and frequencies of abnormality by smoking history. Am. Rev. Respir. Dis. 1983, 127(3):270-277.
20. Legnini E., Orsini J.J., Muhl A., Johnson B., Dajnoki A., Bodamer O.A. Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry. Ann. Lab. Med. 2012, 32(5):319-323.
21. Zhang X.K., Elbin C.S., Chuang W.L., et al. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin. Chem. 2008, 54(10):1725-1728.
22. Pastores G., Weinreb N., Aerts H., Andria G., Cox T., Giralt M. Therapeutic goals in the treatment of Gaucher disease. Semin. Hematol. 2004, 41(Supple 5):4-14.
23. Mozaheb Z., Khayami M., Sayadpoor D. Iron balance in regular blood donors. Transfus. Med. Hemother. 2011, 38:190-194.
24. Pellegrino R., Viegi G., Brusasco V., et al. Interpretative strategies for lung function tests. Eur. Respir. J. 2005, 26(5):948-968.
25. Richards S.M. Immunologic considerations for enzyme replacement therapy in the treatment of lysosomal storage disorders. Clin. Appl. Immunol. Rev. 2002, 2(4-5):241-253.
26. Starzyk K., Richards S., Yee J., Smith S.E., Kingma W. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol. Genet. Metab. 2007, 90(2):157-163.
27. Jones I., He X., Katouzian F., Darroch P.I., Schuchman E.H. Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. Mol. Genet. Metab. 2008, 95:152-162.
28. Reid I.R., Gamble G.D., Mesenbrink P., Lakatos P., Black D.M. Characterization of and risk factors for the acute-phase response after zoledronic acid. J. Clin. Endocrinol. Metab. 2010, 95(9):4380-4387.
29. Spiegel S., Foster D., Kolesnick R. Signal transduction through lipid second messengers. Curr. Opin. Cell Biol. 1996, 8(2):159-167.
30. Gulbins E., Dreschers S., Wilker B., Grassme H. Ceramide, membrane rafts and infections. J. Mol. Med. (Berl.) 2004, 82(6):357-363.
31. Schissel S.L., Jiang X., Tweedie-Hardman J., et al. Secretory sphingomyelinase, a product of the acid sphingomyelinase gene, can hydrolyze atherogenic lipoproteins at neutral pH. Implications for atherosclerotic lesion development. J. Biol. Chem. 1998, 273(5):2738-2746.
32. Hollak C.E., van Weely S., van Oers M.H., Aerts J.M. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 1994, 93(3):1288-1292.
33. Boot R.G., Verhoek M., Langeveld M., et al. CCL18: a urinary marker of Gaucher cell burden in Gaucher patients. J. Inherit. Metab. Dis. 2006, 29(4):564-571.
34. Vellodi A., Foo Y., Cole T.J. Evaluation of three biochemical markers in the monitoring of Gaucher disease. J. Inherit. Metab. Dis. 2005, 28(4):585-592.
35. McGovern M.M., Pohl-Worgall T., Deckelbaum R.J., et al. Lipid abnormalities in children with types A and B Niemann Pick disease. J. Pediatr. 2004, 145(1):77-81.
36. Zimmermann A., Grigorescu-Sido P., Rossmann H., et al. Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study. J. Inherit. Metab. Dis. 2012, 36(3):555-563.
37. Ratko T., Marbella A., Godfrey S., Aronson N. Enzyme-Replacement Therapies for Lysosomal Storage Diseases [Internet].; 2013 Jan. (Technical Briefs, No. 12.). Technical Briefs 2013, Available from: http://www.ncbi.nlm.nih.gov/books/NBK117219/, Agency for Healthcare Research and Quality (US), Rockville (MD).
38. Sanford M., Lo J.H. Elosulfase alfa: first global approval. Drugs 2014, 74(6):713-718.