Theranostics platforms for identifying drugs and nutraceuticals for treatment of rare disease are described. The platforms comprise (a) a cell-phenotype image-enhancing instrument; (b) a drug/nutraceutical library; and (c) a computer-implemented system for analyzing a response of an optically-visible rare-disease cell phenotype to a drug or nutraceutical from the drug/nutraceutical library.

Methods and compositions for diagnosing or detecting Facioscapulohumeral Dystrophy (FSHD) are provided. One aspect provides a method for the evaluation of risk, progression, and therapeutic response of FSHD in human subjects. The method includes measuring/detecting an overall expression pattern or expression level of neutrophil extracellular traps (NETs) in one or more biological samples obtained from the subject and comparing the measured levels of these NETs to overall expression pattern or level of the neutrophil extracellular traps (NETs) from a biological sample of a normal subject. The method further comprises detecting the expression level of a mitochondrial protein in the one or more biological samples of the subject.

The present disclosure provides methods for predicting a patient's response to biglycan therapy for diseases or conditions associated with an abnormal level or activity of biglycan; disorders associated with an unstable cytoplasmic membrane, for example, due to an unstable dystrophin associated protein complex (DAPC); disorders associated with abnormal synapses or neuromuscular junctions, including those resulting from an abnormal MuSK activation or acetylcholine receptor (AChR) aggregation. Examples of such diseases include muscular dystrophies, such as Duchenne's Muscular Dystrophy, Becker's Muscular Dystrophy, neuromuscular disorders and neurological disorders. This application also provides combination therapeutics, such as a biglycan therapeutic and a utrophin therapeutic.

A method for the diagnosis, prognosis and therapeutic monitoring of muscular dystrophy, by detecting titin or one or more fragments of titin in a bodily fluid is provided.

The present invention relates to uses and methods comprising one or more RANK/RANKL antagonists or of a pharmaceutical composition comprising one or more RANK/RANKL antagonists and a pharmaceutically acceptable carrier for treating neuromuscular disorders, non-genetic myopathies, or genetic myopathies; maintaining and/or preserving the excitation:contraction:relaxation coupling; reducing loss of muscle strength associated with neuromuscular disorders, non-genetic myopathies or genetic myopathies; reducing the loss of muscular strength associated with skeletal or cardiac muscle disuse, diseases and aging; or regulating skeletal or cardiac muscle disuse, diseases and/or aging in a patient in need thereof. The present invention also relates to combinations and compositions comprising one or more RANK/RANKL antagonists and to methods for identifying candidate compounds.

Disclosed herein are methods for diagnosing, prognosing and treating muscular dystrophy. Also disclosed are methods of determining the effectiveness of an agent for the treatment of muscular dystrophy. Provided are methods of enhancing muscle regeneration, repair, or maintenance in a subject by administering galectin, such as Galectin-1 and/or Galectin-3 to a subject in need thereof. Also disclosed are methods of increasing or maintaining muscle strength and/or bone density in a subject by administering an effective amount of a Galectin-1 composition, Galectin-3 composition or a combination thereof to the subject in need thereof. Methods of preventing, inhibiting and/or reducing muscle loss and/or bone loss in a subject by administering an effective amount of a Galectin-1 composition, Galectin-3 composition or a combination thereof to the subject in need thereof are disclosed.

Methods for identifying compounds in the treatment of muscular dystrophies, include the use of disease relevant cells derived from a patient. Compounds identified by these methods are useful in the treatment of muscular dystrophy.

The present invention relates to a composition for diagnosing limb-girdle muscular dystrophy type 2H, a method of providing information for diagnosis, and a method of screening a drug for the treatment of limb-girdle muscular dystrophy type 2H.

Disclosed herein are methods for diagnosing, prognosing and treating muscular dystrophy. The disclosed methods can be used to diagnosis, prognosis or treat a subject with merosin-deficient congenital muscular dystrophy Type 1A (MDC1A), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral (FHMD), Beckers muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD). Also disclosed are methods of determining the effectiveness of an agent for the treatment of muscular dystrophy. In an example, a method of diagnosing or prognosing a subject with muscular dystrophy includes detecting expression of Galectin-1 or Galectin-3 in a sample obtained from the subject at risk of having or having one or more signs or symptoms associated with muscular dystrophy, thereby diagnosing or prognosing the subject with muscular dystrophy. Also provided are methods of enhancing muscle regeneration, repair, or maintenance in a subject by administering galectin, such as Galectin-1 and/or Galectin-3 to a subject in need thereof.

Embodiments of this invention include synthetic compounds (NRP analogues) of peptides termed neural regeneration peptides (NRPs). NRP analogues are made by substituting amino acids in the native peptide sequence, modifying amino acids chemically, by replacing amino acids with synthetic moieties, by stabilizing -turns, acetylation of terminal glycine residues or by cyclization. NRP analogues can be used to treat a variety of conditions involving degeneration of neural cells, and includes treating disorders of the nervous system, including peripheral neuropathy, multiple sclerosis, diabetic peripheral neuropathy, neurotoxin-induced neurodegeneration, and amyotrophic lateral sclerosis.