Alexion Pharmaceuticals, Inc.

Synageva Biopharma Corporation

Inozyme Pharma, Inc.

Anthony Quinn

Paresh Soni

Alex J Harvey

Zhinan Xia

Kim Lynette Askew

Nelson Hsia

Markley C Leavitt

Tayeba Khan

Gregory A Grabowski

Zhiliang Cheng

W Charles O'Neill

Kiran Patki

Gary Kachun Yiu

Barbara Burton

Changlin Li

Sandra Rojas-Caro

Anthony Rossomando

Mohammed Qatanani

Robert John Lyng

Joseph Victor Rutkowski

Zachary Goodman

Andrew Rankin

Mark Friedman

The present invention provides methods of treating LAL deficiency comprising administering to a mammal a therapeutically effective amount of lysosomal acid lipase with an effective dosage frequency. Methods of improving growth and liver function, increasing LAL tissue concentration, and increasing LAL activity in a human patient suffering from LAL deficiency are also provided.

Methods for treating lysosomal acid lipase deficiency in patients

The present invention provides a method of treating NPP1 deficiency or NPP1-associated disease such as idiopathic infantile arterial calcification (IIAC), pseudoxanthoma elasticum, vascular calcification in chronic kidney disease (VCCKD), insulin resistance, hypophosphatemic rickets, myocardial ischemia, joint calcification, angioid streaks, and ossification of the posterior longitudinal ligament of the spine. The present invention provides a method for treating tissue calcification by administering soluble NPP1 to produce a transient increase in serum pyrophosphate levels.

Methods of treating tissue calcification

The present invention provides compositions of recombinant human lysosomal acid lipase having particular glycosylation patterns for internalization into target cells, a vector containing the nucleic acid encoding human lysosomal acid lipase, a host cell transformed with the vector, pharmaceutical compositions comprising the recombinant human lysosomal acid lipase and method of treating conditions associated with lysosomal acid lipase deficiency.

Lysosomal storage disease enzymes

The present invention provides methods of treating LAL deficiency comprising administering to a mammal a therapeutically effective amount of lysosomal acid lipase with an effective dosage frequency. Methods of improving growth and river function, increasing LAL tissue concentration, and increasing LAL activity in a human patient suffering from LAL deficiency are also provided.

The present invention is directed to isolated recombinant human ADA2 proteins, ADA2 biologically active fragments, and ADA2 fusion proteins. The proteins of the invention can be surprisingly used to restore ADA2 activity in subjects having loss-of-function mutations in ADA2 and increase differentiation of monocytes into macrophages, e.g., M2 macrophages, e.g., M2c macrophages, stimulate CD4+ T cell proliferation, and increase endothelial cell development. More specifically, the ADA2 proteins, ADA2 biologically active fragments, and ADA2 fusion proteins of the invention can be used to treat subjects having ADA2-associated diseases or disorders, including but not limited to, polyarteritis nodosa, Sneddon Syndrome, vasculitis, ischemic stroke, hemorrhagic stroke, lacunar stroke, aneurysm in the celiac artery, skin rash, skin necrosis, livedo racemosa, hepatosplenomegaly, organ failure, retinal artery occlusion, optic nerve atrophy, diplopia, cranial nerve palsy, strabismus, and low serum IgM.

Recombinant human ADA2 and ADA2 fusion proteins and methods for treating ADA2 deficiencies

Methods for treating the central nervous system (CNS) in a human patient with mucopolysaccharidosis (MPS) MB who has an intact blood brain barrier, comprising intravenous administration of recombinant NaGlu.

Methods of treating Mucopolysaccharidosis IIIB (MPSIIIB)

The present invention provides compositions comprising an isolated mixture of recombinant human NaGlu proteins in which a substantial amount of the NaGlu proteins in the mixture has increased levels of phosphorylated mannose that confer the proteins to be efficiently internalized into human cells. The present invention also provides methods of producing such mixture of NaGlu proteins, vectors used in transgenesis and expression, host cells harboring such vectors, and methods of isolating and purifying the mixture of NaGlu proteins. The invention further provides methods of treating NaGlu associated diseases.

Recombinant human NaGlu protein and uses thereof

The present invention provides a novel fusion polypeptide containing a catalytic portion of NPP1 fused to a targeting moiety, nucleic acids encoding the fusion polypeptide, a vector containing the nucleic acid integrated thereinto, a host cell transformed with the vector and pharmaceutical compositions comprising the fusion polypeptide.

NPP1 fusion proteins

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Chestnut Hill, MA, United States of America

Anthony Quinn