Methods and compositions for a genetic disease are provided.

Provided are antibodies, and antigen-binding fragments thereof, which specifically bind to an extracellular poor loop of an alpha 1a subunit of L-type voltage gated calcium channel, and related compositions, kits, and methods of use thereof, for instance, administration to a subject in need thereof to modify an immune response, for example, in the treatment of cancer.

Formulations of human amniotic fluid and methods of use thereof for treatment of lung disorders, and/or injuries have been developed. The formulations are suitable for topical delivery to the lung for treatment of lung disorders including chronic obstructive pulmonary disorders (COPD), asthma, emphysema, bronchiectasis, chronic bronchitis, interstitial lung disease, alpha-1 antitrypsin emphysema, as well as for treatment of acute lung injuries. Methods including administering specifically formulated, diluted sterile de-cellularized human amniotic fluids topically to the lungs, preferably as aerosol droplets, are described. In particular, the methods involving administration of the amniotic fluid formulation in the form of aerosol droplets with size between about 1.5 μm to about 5 μm, preferably from about 2.5 μm to about 3.5 μm, inclusive, using apparatus such as high-efficiency vibrating mesh nebulizers, are described. Formulations described can treat, or prevent one or more symptoms of a chronic lung disorder.

The invention provides substituted pyrazolo[1,5-a]pyrimidinyl carboxamide and related organic compounds, compositions containing such compounds, medical kits, and methods for using such compounds and compositions to treat medical disorders, e.g., Gaucher disease, Parkinson's disease, Lewy body disease, dementia, or multiple system atrophy, in a patient. Exemplary substituted pyrazolo[1,5-a]pyrimidinyl carboxamide compounds described herein include 2-heterocyclyl-4-alkyl-pyrazolo[1,5-a]pyrimidine-3-carboxamide compounds and variants thereof.

The present invention provides methods and combinations for reducing the infarct volume in a tissue of a subject undergoing ischemia or at risk of developing ischemia.

The present invention relates to compounds of formula (I): ##STR00001##
or a pharmaceutically acceptable salt, hydrate, solvate, or prodrug thereof, wherein U, J, V, X, R.sup.2a, R.sup.2b, R.sup.2c, R.sup.5 and t are as described herein. The present invention relates generally to inhibitors of histone deacetylase and to methods of making and using them. These compounds are useful for promoting cognitive function and enhancing learning and memory formation. In addition, these compounds are useful for treating, alleviating, and/or preventing various conditions, including for example, neurological disorders, memory and cognitive function disorders/impairments, extinction learning disorders, fungal diseases and infections, inflammatory diseases, hematological diseases, and neoplastic diseases in humans and animals.

Provided herein are nucleic acid molecules that target the BCL11A enhancer functional regions, compositions comprising the nucleic acid molecules and methods for increasing fetal hemoglobin levels in a cell by disrupting BCL11A expression at the genomic level. Also provided herein are methods and compositions relating to the treatment of hemoglobinopathies by reinduction of fetal hemoglobin levels. In particular, the nucleic acid molecules target the +62, +58, and/or the +55 enhancer functional regions.

The present disclosure relates to crystalline solid forms of a stimulator of soluble guanylate cyclase (sGC), Compound I: ##STR00001##
Also provided herein are methods for the preparation of these solid forms. The invention also relates to pharmaceutical formulations and dosage forms comprising these solid forms and their uses thereof, alone or in combination with one or more additional agents, for treating and/or preventing various diseases or disorders; these diseases or disorders are ones that may benefit from sGC stimulation or from an increase in the concentration of nitric oxide (NO) and/or cyclic guanosine monophosphate (cGMP).

Solid state forms of Mitapivat, Mitapivat hemisulfate, Mitapivat HCl, Mitapivat phosphate, Mitapivat hemisulfate:ascorbic acid and Mitapivat hemisulfate:adipic acid, processes for preparation thereof, pharmaceutical compositions there-of, and uses thereof are disclosed.

The present disclosure relates to glutarimide skeleton-based compounds of Formula (I) or a salt, an enantiomer, a stereoisomer, a solvate, or a polymorph thereof, and uses thereof. The present disclosure further relates to a pharmaceutical composition comprising, as an active ingredient, the glutarimide skeleton-based compounds of Formula (I), or a salt, an enantiomer, a stereoisomer, a solvate, or a polymorph thereof, and uses thereof. The series of compounds designed and synthesized in the present disclosure can effectively prevent and/or treat a tumor.

##STR00001##