BS, Cornell University
Clinical trials to evaluate the safety and effectiveness of new treatments for patients with
Longitudinal studies to learn about natural history of patients with
An Open-Label, Multicenter, Ascending Dose Study Of The Tolerability And Safety Of Recombinant Human Acid Sphingomyelinase (rhASM) In Patients With Acid Sphingomyelinase Deficiency (ASMD)
This is a study designed to find out if a drug called recombinant human acid sphingomyelinase (rhASM) is safe to give to humans. This drug has been developed to treat a disease called Niemann Pick Disease type B or Acid Sphingomyelinase Deficiency (ASMD). If the safet...
Niemann-Pick Disease:Genotype/Phenotype Analysis
The purpose of this study is to determine the range of illness among patients affected with Niemann-Pick disease A or B and to study how fast the disease symptoms progress, or get worse. Patients may qualify for participation in this study if they are affected with Niemann-Pick d...
Long-term Extension of a Phase 2, Open-Label Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects with PKU (BioMarin Pharmaceutical Inc. Protocol PAL-003)
The purpose of the study is to find out what good effects and side effects the study drug rAvPAL-PEG has on people with Phenylketonuria (PKU). It is also being done to see if the drug has any effect on Phenylalanine (Phe) levels for people with PKU. PKU is a condition that people...
McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics 2008 Aug; 122(2): e341-349.
Wasserstein M, McGovern MM. Genetic basis of the lipid storage disorders. Future Lipidology 2008 April; 3(2): 189-201.
Willis A, Vanhuse C, Newton K, Wasserstein M, Morotti R. Farber Disease Type IV Presenting with Cholestatic Jaundice and neonatal liver failure:Report of Two Cases. Pediatr Dev Pathol 2007 Sept; 28(1).
Mc Guire PJ, Lim-Melia E, Diaz GA, Raymond K, Larkin A, Wasserstein MP, Sansaricq C. Combined liver-kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature. Mol Genet Metab 2007 Oct 25;.
Salomons GS, Gibson KM, Landegge Pope L, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JJ, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JH, Ketteridge D, Wasserstein MP, Jakobs C. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. J Inherit Metab Dis 2007 Feb; 30(1): 23-28.
Wasserstein MP, Aron A, McGovern MM, Simonaro C, Desnick RJ, Brodie SE. Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediat 2006 October; 149(4): 554-559.
McGovern MM, Aron A, Wasserstein MP, Desnick RJ, Brodie SE. Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology 2006 Jan 24; 66(2): 228-232.
Wasserstein MP, Buchsbaum MS, Sansaricq C, Snyderman SE. Cerebral glucose metabolism in patients with early treated classical phenylketonuria. Molec Genet Metab 2006 March; 87: 272-277.
Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, McGovern MM, Skloot G, Vanier M, Bembi B, Giugliani R, Simpson W. Findings and Pulmonary Function in Niemann-Pick Disease Type B. Radiology 2006 Jan; 238(1): 339-345.
Wasserstein MP, Desnick RJ, Schuchman EH, McGovern MM, Wallenstein S, Lamm C, Hossain S. Natural history of type B Niemann-Pick Disease: results from a ten. Pediatrics 2004 Dec; 114(6): 672-677.