Metabolic and Genetic Disorders
KZE has experience across a broad spectrum of metabolic diseases and has prepared regulatory documents and manuscripts in support of: diabetes mellitus, hypophosphatasia, hereditary angioedema, Cushing’s Syndrome, mucopolysaccharidoses, hereditary inclusion body myopathy and Neimann Pick Disease (acid sphingomyelinase deficiency).
Medical Writing Products
Documents in support of IND, NDA and BLA submissions including Clinical study reports, safety and efficacy summaries, and investigator brochures
Manuscripts based on pre-clinical and phase I-IV clinical data, observational studies, resource utilization data, and health outcomes research
Bibliography: Sample Publications and Abstracts
McGovern M., Dionisi-Vici C. Giugliani R, et al. Consensus Recommendation on a Diagnostic Guideline for Acid Sphingomyelinase Deficiency. Gen in Med, In Press 2017.
Donovan JM, Zimmer M. Offman E, et al. A Novel NF-κB Inhibitor (Edasalonexent, CAT-1004) in Development as a Disease-Modifying Treatment for Patients with Duchenne Muscular Dystrophy: Phase 1 Safety, Pharmacokinetics, and Pharmacodynamics in Adult Subjects. J Clin Pharm. In Press 2017.
Clarke LA, Atherton AM, Burton BK, et al. MPS I Newborn Screening: Best Practices for Diagnosis and Management. J Pediatrics. Dec 7; doi: 10.1016/j.jpeds.2016.11.036. 2016.
Bruni S, Lavery C, and Broomfield A. The diagnostic journey of patients with mucopolysaccharidosis I:
A real-world survey of patient and physician experiences. Mol Gen Metab Rep. Jul; 8: 67-73. 2016.
Cassiman D, Packman S, Bembi B, et al. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. Mol Genet Metab. 118(3):206-13. doi: 10.1016/j.ymgme.2016.05.001. 2016
Horovitz DD, Acosta AX, Giugliani R, et al. Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series. Orphanet J Rare Dis. 11(1):51. doi: 10.1186/s13023-016-0437-8. 2016
Al-Sannaa NA, Bay L, Barbouth DS et al. Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships. Orphanet J Rare Dis, 10:131, DOI 10.1186/s13023-015-0344-4, 2015.
G Hess, E Fonseca, R Scott, J Fegerness. Pharmacogenomic and pharmacogenetic-guided therapy as a tool in precision medicine: current state and factors impacting acceptance by stakeholders. Genet Res Camb 97: e13, 2015.
MP Wasserstein, SA Jones, H Soran, et al. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Molec Gen Metab, S1096-7192(15)30019-6. doi: 10.1016/j.ymgme, 2015.
HH Li, D Muldovan, JA Bernstein, et al. Recombinant human-C1 inhibitor is effective and safe for repeat hereditary angioedema attacks. J Allergy Clin Immunol, 3: 417-423, 2015.
B Darpo, R Bullingham, DL Combs, et al., Assessment of the cardiac safety and pharmacokinetics of a short course, twice-daily dose of orally-administered mifepristone in healthy male subjects. Cardiol J 20 (2): 152-160, 2013.
N Ejskjaer, G Dimcevski, J Wo et al., Safety and efficacy of ghrelin agonist TZP-101 in relieving symptoms in patients with diabetic gastroparesis: a randomized, placebo-controlled study Neurogastoenterol Motility. 22(10):1069-e281, 2010.