Genzyme Corporation

Timothy E Weeden

Clark Qun Pan

James E Stefano

Carol A Nelson

Bruce M Wentworth

Nicholas P Clayton

Michael A Perricone

John Lyle Dzuris

Andrea E Edling

Ronald K Scheule

Andrew Leger

Nikolai Bukanov

Sarah Moreno

Seng H Cheng

Seng Cheng

Nicholas Clayton

Bruce Wentworth

Provided herein are methods for determining the efficacy of treatment for polycystic kidney disease (PKD) in a patient, diagnosing PKD in a patient, staging PKD in a patient, and monitoring PKD in a patient. These methods include determining a single or multiple levels of AMBP. Also provided are kits that include an antibody specifically binds to AMBP protein and at least one antibody that specifically binds to an additional marker of PKD.

Biomarker of polycystic kidney disease and uses thereof

The present disclosure relates to antisense oligonucleotides (AONs) for modulating the expression of glycogen synthase. AONs of the present disclosure may be useful in treating diseases associated with the modulation of the expression of the enzyme glycogen synthase, such as Pompe disease. Also provided by the present disclosure are compositions comprising AONs, as well as methods of down regulating mRNA coding for glycogen synthase, methods for reducing glycogen synthase in skeletal and cardiac muscle, and methods for treating Pompe disease.

Inhibiting or downregulating glycogen synthase by creating premature stop codons using antisense oligonucleotides

The present disclosure relates to antisense oligonucleotides (AONs), such as phosphorodiamidate morpholino oligonucleotides (PMOs). The present disclosure further relates to the conjugation of multiple PMOs to cationic cell penetrating peptides (CPPs) to enhance the uptake of PMOs into skeletal and cardiac muscle cells.

Multiple oligonucleotide moieties on peptide carrier

Provided herein are stable peptide analogs of the native alpha-melanocyte stimulating hormone (&#x3b1;-MSH) having selectivity for the melanocortin 1 receptor (MC1R). Also provided herein are pharmaceutical preparations of the &#x3b1;-MSH peptide analogs, as well as methods of using these analogs in the treatment of medical and veterinary conditions involving MC1R.

Peptide analogs of alpha-melanocyte stimulating hormone

Provided herein are peptide-linked morpholino (PPMO) antisense oligonucleotides that target the poly CUG repeat tract in the 3' untranslated region of the gene encoding dystrophia myotonica-protein kinase (DMPK) and methods for systemic administration of the same for the treatment of mytonic dystrophy type I (DM1).

Peptide-linked morpholino antisense oligonucleotides for treatment of myotonic dystrophy

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Sturbridge, MA, United States of America

Timothy E Weeden