Guidelines developed for CMD

An international panel of doctors and scientists, including many supported by MDA, produces the first-ever standard of care guidelines for the congenital muscular dystrophies (CMD). The guidelines are intended to improve and standardize the diagnosis, treatment and clinical care of people affected by this group of muscular dystrophies.

MDA awards grant to develop new stop codon read-through drug

MDA awards a translational research grant of about $500,000 for development of a new "stop codon read-through" drug called RTC13 to treat Duchenne or Becker muscular dystrophy caused by premature stop codon mutations. The grant is to a research group at the University of California, Los Angeles. It's been estimated that up to 15 percent of boys with DMD or BMD have this type of mutation, which creates an erroneous “stop signal” in the dystrophin gene. It's this type of mutation that RTC13 will target. Another stop codon read-through drug, called ataluren, is being developed for this type of DMD/BMD mutation by biotechnology company PTC Therapeutics. PTC also has received MDA support for drug development.

MDA awards additional $2 million to ALS TDI nonprofit biotech

MDA awards an additional $2 million to the ALS Therapy Development Institute of Cambridge, Mass., for development of treatments for amyotrophic lateral sclerosis. The new grant brings the total amount the Association has awarded to this nonprofit biotech institution to more than $23.7 million since 2007. The ALS TDI plans to test four new compounds in the SOD1 ALS research mouse model and to begin working with the new TDP43 mouse model of ALS.

MDA makes translational research award to develop new MG treatment

MDA's translational research program makes an award of more than $500,000 for development of a potential new treatment for myasthenia gravis, a disease in which the immune system attacks the neuromuscular junction (the place where nerve and muscle fibers meet). The grant is for development into a therapy of the protein GM-CSF, which may stimulate regulatory immune system cells, dampening the unwanted immunologic attack.

MDA supports development of HSP70 for ALS

MDA's translational research program awards $250,000 to biotechnology company ALS Biopharma to develop a new strategy for the treatment of amyotrophic lateral sclerosis, with the goal of bringing it into human trials. The company will test different forms of HSP70, a "heat shock protein" that’s part of a class of chemicals known to help cells withstand stress. Preliminary studies have shown that HSP70 delays symptom onset and improves survival time in the SOD1 mouse model of ALS.

Three drug candidates identified for DMD/BMD in zebrafish model

A screen of 1,120 chemicals in a recently developed zebrafish model of Duchenne muscular dystrophy leads MDA-supported scientists to three new drug candidates for this disease and the related Becker muscular dystrophy. The three candidates caused improved survival and muscle structure in the fish. All three have been used to treat other human diseases.

MDA supports development of GLX1112 for ALS

MDA's translational research program awards a grant of more than $250,000 to biotechnology company Glialogix to develop a new glutamate inhibitor for the potential treatment of amyotrophic lateral sclerosis. The grant will fund a study of the experimental compound GLX1112 in the SOD1 research mouse. Excessive glutamate, a central nervous system chemical, is believed to play a role in ALS. Riluzole, the only drug approved by the U.S. Food and Drug Administration to treat ALS, is a glutamate inhibitor with modest benefits in this disease.

Exon-skipping drugs show promise in boys with DMD

Two experimental drugs to treat Duchenne muscular dystrophy, both of which make use of a strategy called "exon skipping," show promise in human trials in this disease. One drug, PRO051/GSK2402968, results in increased production of the needed dystrophin protein and improved walking ability in boys with DMD. It's being developed by the pharmaceutical companies Prosensa and GlaxoSmithKline. The other drug, known as eteplirsen, being developed by AVI BioPharma, also increases dystrophin production. Both are designed to cause cells to reinterpret genetic instructions for the dystrophin protein by telling the cells to "skip" a section of the instructions called exon 51. MDA-supported laboratory research on exon skipping provided much of the scientific data on which these trials are based.

ISIS-SOD1-Rx shows safety in familial ALS trial

An MDA-supported clinical trial of ISIS-SOD1-Rx demonstrates safety in people with a form of familial amyotrophic lateral sclerosis caused by a mutation in the SOD1 gene. ISIS-SOD1-Rx is an "antisense oligonucleotide" in development by Isis Pharmaceuticals with MDA support. It's designed to block synthesis of toxic SOD1 protein molecules in this form of ALS. The trial moves to a higher dosage level.

FDA approves testing of RG3039 in people with SMA

The U.S. Food and Drug Administration (FDA) gives biotechnology company Repligen approval to begin a human trial of RG3039, an experimental treatment for spinal muscular atrophy. A $1.4 million grant from MDA supports this phase 1 trial and also supported earlier, laboratory development of RG3039. The drug is a small-molecule therapy designed to increase levels of the SMN protein, which is deficient in SMA. It's the first medication specifically designed to treat SMA.