A composition and a use thereof in treating facial dysmorphism in mucopolysaccharidosis are disclosed. The composition is obtained by subcutaneously injecting a composition into the face for facial subcutaneous injection formulation including a lysosomal enzyme and hyaluronic acid into a subject, thereby effectively improving facial dysmorphism in mucopolysaccharidosis

Embodiments disclosed herein provide compositions for conjugates, including fusion proteins, and methods of using them to treat a variety of conditions. In some embodiments, the conjugates and/or fusion proteins incorporate a 60-amino acid human homeodomain (e.g., peptides derived from human HOX genes), to translocate functional and regulatory peptides and proteins or other biologically active molecules such as nucleic acids, which are not naturally associated with the human homeodomain, across cell and nuclear membranes to intended sites of action without provoking an unwanted immune response that may reduce exposure to the conjugate and/or result in a clinical adverse event. In further embodiments, disclosed conjugates and fusion proteins can pass through the blood-brain barrier to allow entry into the CNS. In various embodiments, the disclosed compositions are suitable for delivery into a cell (i) the expression product of a gene of interest and/or (ii) novel peptides or polynucleotides to regulate gene function.

Embodiments disclosed herein provide compositions for conjugates, including fusion proteins, and methods of using them to treat a variety of conditions. In some embodiments, the conjugates and/or fusion proteins incorporate a 60-amino acid human homeodomain (e.g., peptides derived from human HOX genes), to translocate functional and regulatory peptides and proteins or other biologically active molecules such as nucleic acids, which are not naturally associated with the human homeodomain, across cell and nuclear membranes to intended sites of action without provoking an unwanted immune response that may reduce exposure to the conjugate and/or result in a clinical adverse event. In further embodiments, disclosed conjugates and fusion proteins can pass through the blood-brain barrier to allow entry into the CNS. In various embodiments, the disclosed compositions are suitable for delivery into a cell (i) the expression product of a gene of interest and/or (ii) novel peptides or polynucleotides to regulate gene function.

Compositions and methods for delivering enzymes in enzyme hydrogel formulations are disclosed. More particularly, the present disclosure relates to injectable enzyme hydrogel formulations and delivery of injectable enzyme hydrogel formulations. Also disclosed are methods for GALNS enzyme replacement therapy and lysosomal enzyme replacement therapy.

Lysosomal storage diseases can be successfully treated using intraventricular delivery of the enzyme which is etiologically deficient in the disease. The administration can be performed slowly to achieve maximum effect. Surprisingly, effects are seen on both sides of the blood-brain barrier, making this an ideal delivery means for lysosomal storage diseases which affect both brain and visceral organs.

Provided herein are methods and compositions for treating a subject suffering from a deficiency in iduronate 2-sulfatase in the CNS. The methods include systemic administration of a bifunctional fusion antibody comprising an antibody that crosses the blood brain barrier (BBB) and an iduronate 2-sulfatase.

A suspension useful for AAV9-mediated intrathecal and/or systemic delivery of an expression cassette containing a hIDS gene is provided herein. Also provided are methods and kits containing these vectors and compositions useful for treating Hunter syndrome and the symptoms associated with Hunter syndrome.

The present disclosure provides methods for producing activated type I sulfatases, or functional fragments thereof, using Formylglycine Generating Enzymes (FGEs). Also featured by the disclosure are recombinant fungal (e.g., Yarrowia lipolytica) cells expressing the FGE and, in some embodiments, type I sulfatases, or functional fragments thereof, and/or additional accessory enzymes. The disclosure also provides activated type I sulfatases or functional fragments thereof, made by the disclosed methods and therapeutic methods using the activated type I sulfatases or functional fragments thereof.

A Hunter syndrome therapeutic agent contains a first composition to be intravenously injected and a second composition to be subcutaneously injected. The agent can reduce the number of visits to the hospital by patients with Hunter syndrome to twice a month or less. It maintains a medicinal effect equivalent to or greater than that of a conventional once-a-week IV injection, increases drug-taking compliance of patients in comparison to conventional therapeutic agents and treatment methods, and enables enhanced patient welfare and convenience.

Mutated Pseudomonas aeruginosa sulfatase (PaS) enzymes with enhanced enzymatic activity as compared to the parental wild type enzyme are provided. The variant sulfatases of the invention advantageously allow for accurate analysis of bodily samples for the presence of drugs. Methods of using the mutated enzymes for hydrolysis of sulfate ester linkages are also provided, including with substrates such as opioids or steroids containing a sulfate ester linkage.