Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

Orphanet Journal of Rare Diseases

Volumn 12, Issue 1, 2017, Pages

  Jones, Simon A ^a   Rojas Caro, Sandra ^b   Quinn, Anthony G ^b,k   Friedman, Mark ^c   Marulkar, Sachin ^c   Ezgu, Fatih ^d   Zaki, Osama ^e   Gargus, J Jay ^f   Hughes, Joanne ^g   Plantaz, Dominique ^h   Vara, Roshni ⁱ   Eckert, Stephen ^b   Arnoux, Jean Baptiste ^j   Brassier, Anais ^j   Le Quan Sang, Kim Hanh ^j   Valayannopoulos, Vassili ^j,l  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b Synageva BioPharma Corp   (United States)

^c ALEXION PHARMACEUTICALS   (United States)

^d GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^e AIN SHAMS UNIVERSITY   (Egypt)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^h GRENOBLE UNIVERSITY HOSPITAL   (France)

ⁱ EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^j HÔPITAL NECKER ENFANTS MALADES   (France)

^k IDBioPharm Consulting   (United States)

^l GENZYME CORPORATION   (United States)

more..

Author keywords

Hemophagocytic lymphohistiocytosis; Lysosomal acid lipase deficiency; Sebelipase alfa; Survival; Wolman disease

Indexed keywords

SEBELIPASE ALFA; CHOLESTEROL ESTERASE;

ANEMIA; ARTICLE; CAUSE OF DEATH; CHILL; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DRUG DOSE ESCALATION; DRUG EFFICACY; DRUG SAFETY; FEMALE; FEVER; GASTROINTESTINAL SYMPTOM; HEPATOSPLENOMEGALY; HUMAN; INFANT; INFUSION RELATED REACTION; LIVER DYSFUNCTION; MALE; MULTICENTER STUDY; OPEN STUDY; PALLOR; PARACENTESIS; PHASE 2 CLINICAL TRIAL; PHASE 3 CLINICAL TRIAL; REPEATED DRUG DOSE; TACHYCARDIA; WOLMAN DISEASE; CLINICAL TRIAL; MORTALITY; SURVIVAL ANALYSIS;

FEMALE; HUMANS; INFANT; MALE; STEROL ESTERASE; SURVIVAL ANALYSIS; WOLMAN DISEASE;

EID: 85012249357     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-017-0587-3     Document Type: Article

References (30)

1. Lysosomal acid lipase deficiency (#278000). Online Mendelian Inheritance in Man web site: omim.org. Accessed 19 Sept 2016.
2. Grabowski GA, Charnas L, Du H. Lysosomal acid lipase deficiencies: the Wolman disease/cholesteryl ester storage disease spectrum. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, editors. Metabolic and molecular bases of inherited disease. 8th ed. New York, NY: McGraw-Hill; 2012. Chapter 142.
3. Zhang B, Porto AF. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 2013;56:682-5.
4. Hoffman EP, Barr ML, Giovanni MA, Murray MF, et al. Lysosomal acid lipase deficiency. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, editors. GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993.
5. Abramov A, Schorr S, Wolman M. Generalized xanthomatosis with calcified adrenals. AMA J Dis Child. 1956;91:282-6.
6. Crocker AC, Vawter GF, Neuhauser EB, Rosowsky A. Wolman’s disease: three new patients with a recently described lipidosis. Pediatrics. 1965;35:627-40.
7. Jones SA, Banikazemi M, Bialer M, Cederbaum S, Chan A, Dhawan A, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med. 2016;18:452-8.
8. Bernstein DL, Hulkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58:1230-43.
9. Reiner Z, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, et al. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014;235:21-30.
10. Burton B, Balwani M, Feillet F, Baric I, Burrow T, Camarena Grande C, et al. A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency. N Engl J Med. 2015;373:1010-20.
11. Gomez-Najera M, Barajas-Medina H, Gallegos-Rivas MC, Mendez-Sashida P, Goss KA, Sims KB, et al. New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease). J Pediatr Gastroenterol Nutr. 2015;60:e22-4.
12. Krivit W, Freese D, Chan KW, Kulkarni R. Wolman’s disease: a review of treatment with bone marrow transplantation and considerations for the future. Bone Marrow Transplant. 1992;10 Suppl 1:97-101.
13. Krivit W, Peters C, Dusenbery K, Ben-Yoseph Y, Ramsay NK, Wagner JE, et al. Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplant. 2000;26:567-70.
14. Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, et al. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant. 2009;43:21-7.
15. Gramatges MM, Dvorak CC, Regula DP, Enns GM, Weinberg K, Agarwal R. Pathological evidence of Wolman’s disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. Bone Marrow Transplant. 2009;44:449-50.
16. Yanir A, Allatif MA, Weintraub M, Stepensky P. Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. Mol Genet Metab. 2013;109:24-6.
17. Stein J, Garty BZ, Dror Y, Fenig E, Zeigler M, Yaniv I. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. Eur J Pediatr. 2007;166:663-6.
18. Balwani M, Breen C, Enns GM, Deegan PB, Honzik T, Jones S, et al. Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease. Hepatology. 2013;58:950-7.
19. Trial in children with growth failure due to early onset lysosomal acid lipase (LAL) deficiency/Wolman disease NCT01371825. ClinicalTrials.gov. Accessed 19 Sept 2016.
20. WHO child growth standards: length/height-for-age, weight-for-age, weight-for-length, weight-for-height and body mass index-for-age: methods and development. Geneva, Switzerland: World Health Organization; 2006.
21. Tracking progress on child and maternal nutrition: a survival and development priority. New York: United Nations Children’s Fund; 2009.
22. Frankenburg WK, Dodds J, Archer P, Bresnick B, Maschka P, Edelman N, et al. Denver II training manual. Denver Developmental Materials: Oxford, United Kingdom; 1992.
23. Scott SA, Liu B, Nazarenko I, Martis S, Kozlitina J, Yang Y, et al. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G > A) in various racial and ethnic groups. Hepatology. 2013;58:958-65.
24. Lohse P, Maas S, Lohse P, Elleder M, Kirk JM, Besley GT, et al. Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. J Lipid Res. 2000;41:23-31.
25. Kanuma [summary of product characteristics]. Rueil-Malmaison, France: Alexion Europe, 2015.
26. Anderson RA, Bryson GM, Parks JS. Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. Mol Genet Metab. 1999;68:333-45.
27. Mayatepek E, Seedorf U, Wiebusch H, Lenhartz H, Assmann G. Fatal genetic defect causing Wolman disease. J Inherit Metab Dis. 1999;22:93-4.
28. Taurisano R, Maiorana A, De Benedetti F, Dionisi-Vici C, Boldrini R, Deodato F. Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation. Eur J Pediatr. 2014;173:1391-4.
29. Perry R, Kecha O, Paquette J, Huot C, Van Vliet G, Deal C. Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab. 2005;90:3243-50.
30. Valayannopoulos V, Malinova V, Honzik T, Balwani M, Breen C, Deegan PB, et al. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol. 2014;61:1135-42.