Spinal Muscular Atrophy News and Research

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Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of death among infants and toddlers. Characterized by selective loss of nerve cells in the spinal cord, the disease leads to increasing muscular weakness and atrophy. Over time, patients afflicted by SMA continue to lose muscle control and strength, leading to progressive inability to walk, stand, sit up and breathe. It is estimated that approximately 1 in 6,000 to 1 in 10,000 infants are born annually worldwide with SMA.

AMRI awarded NIH contract for drug development services

AMRI today announced it received a 10-year federal contract award from the National Institutes of Health for drug development and manufacturing services. This NIH/National Institute of Neurological Disorders and Stroke award will support NIH's Drug Manufacturing and Formulation Program (DMFP), which is a component of the Blueprint Neurotherapeutics Network (BPN).

19 Jan 2015

New computational technique reveals genetic roots of autism, cancers

In the decade since the genome was sequenced in 2003, scientists and doctors have struggled to answer an all-consuming question: Which DNA mutations cause disease?

22 Dec 2014

Isis Pharmaceuticals begins ISIS-DMPK Rx clinical study in DM1 patients

Isis Pharmaceuticals, Inc. announced today that it has initiated a study for ISIS-DMPK Rx in patients with Myotonic Dystrophy Type 1 (DM1). DM1 is a rare genetic neuromuscular disease caused by the production of toxic dystrophia myotonica-protein kinase (DMPK) RNA in cells. ISIS-DMPKRx is specifically designed to reduce toxic DMPK RNA.

16 Dec 2014

Isis Pharmaceuticals CEO honored with SCRIP Lifetime Achievement Award

Stanley T. Crooke, Ph.D., M.D., founder, CEO and chairman of the board of directors of Isis Pharmaceuticals, Inc., has been awarded the 2014 SCRIP Lifetime Achievement Award, one of the most prestigious of its kind in the pharmaceutical and biotechnology industries worldwide.

5 Dec 2014

Isis Pharmaceuticals announces initiation of ISIS-SMN Rx Phase 3 study in children with SMA

Isis Pharmaceuticals, Inc. announced today the initiation of a pivotal Phase 3 study evaluating ISIS-SMNRx in approximately 120 non-ambulatory children with spinal muscular atrophy (SMA).

25 Nov 2014

Isis receives $10 million from Biogen Idec to initiate IND-supporting studies of ISIS-BIIB3 Rx

Isis Pharmaceuticals, Inc. announced today that it has earned a $10 million milestone payment from Biogen Idec related to the initiation of investigational new drug (IND)-supporting studies of ISIS-BIIB3Rx. ISIS-BIIB3Rx is a recently identified development candidate designed to inhibit an undisclosed target to treat a neurodegenerative disease.

6 Nov 2014

Murdoch University researchers receive NHMRC grant to develop genetic drugs for rare diseases

Murdoch University researchers from the Centre for Comparative Genomics have received almost $800,000 in funding from the National Health and Medical Research Council to develop genetic drugs to treat rare diseases.

6 Nov 2014

Isis Pharmaceuticals provides update on Phase 2 clinical studies of ISIS-SMN Rx in children with SMA

Isis Pharmaceuticals, Inc. today provided an update on its ongoing open-label Phase 2 clinical studies of ISIS-SMN Rx in infants and children with spinal muscular atrophy at the 19th International World Muscle Society (WMS) Congress in Berlin, Germany.

10 Oct 2014

Cedars-Sinai to participate in a consortium studying motor neuron disorders

Investigators at the Cedars-Sinai Board of Governors Regenerative Medicine Institute have received a grant from the National Institutes of Health to participate in a consortium taking the study of motor neuron disorders - such as Lou Gehrig's disease and spinal muscular atrophy - to a new, comprehensive perspective.

26 Sep 2014

MU researchers make new breakthrough in spinal muscular atrophy drug

According to recent studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken over time.

16 Sep 2014

Six research institutions awarded NIH grants to create database of human cellular responses

Building on a successful three-year pilot project, the National Institutes of Health has awarded more than $64 million to six research institutions to create a database of human cellular responses, the Library of Integrated Network-based Cellular Signatures.

15 Sep 2014

Splice-switching oligonucleotide drugs alter editing of gene transcript

In splice-switching, an innovative therapeutic approach, targeted oligonucleotide drugs alter the editing of a gene transcript to produce the desired form of a protein.

18 Jul 2014

Isis Pharmaceuticals begins ISIS-DMPK Rx Phase 1 study for treatment of Myotonic Dystrophy Type 1

Isis Pharmaceuticals, Inc. announced today that it has initiated a Phase 1 study for ISIS-DMPKRx. Isis earned a $14 million milestone payment from Biogen Idec associated with this achievement.

9 Jun 2014

Study: Sufficient copies of SMN1 gene extend survival in animals with spinal muscular atrophy

To make up for insufficient amounts of SMN protein, the cause of the inherited neuromuscular disease spinal muscular atrophy (SMA), researchers have successfully delivered a replacement SMN1 gene directly to the spinal cords of animal models of SMA.

23 May 2014

Isis Pharmaceuticals reports pro forma net operating loss of $22.6 million for Q1 2014

Isis Pharmaceuticals, Inc. today reported a pro forma net operating loss (NOL) of $22.6 million for the three months ended March 31, 2014 compared to pro forma operating income of $4.5 million for the same period in 2013.

6 May 2014

Astrocytes malfunction may contribute to neurodegenerative disorders

Scientists studying brain diseases may need to look beyond nerve cells and start paying attention to the star-shaped cells known as "astrocytes," because they play specialized roles in the development and maintenance of nerve circuits and may contribute to a wide range of disorders, according to a new study by UC San Francisco researchers.

29 Apr 2014

Positive results from pivotal clinical trial of Trophos’ olesoxime in SMA patients to be presented at AAN 2014

Trophos and AFM-Telethon today announce that data from the pivotal clinical trial of Trophos’ lead product candidate olesoxime in spinal muscular atrophy (SMA) will be presented during the 66th American Academy of Neurology annual meeting to be held in Philadelphia, PA, USA, from April 26 to May 3 2014.

29 Apr 2014

New way to make large concentrations of skeletal muscle cells from human stem cells

As stem cells continue their gradual transition from the lab to the clinic, a research group at the University of Wisconsin-Madison has discovered a new way to make large concentrations of skeletal muscle cells and muscle progenitors from human stem cells.

24 Mar 2014

Trophos' olesoxime shows beneficial effect on maintaining motor function in SMA patients

Trophos today announces that top-line results from a pivotal clinical trial of its lead product candidate olesoxime in spinal muscular atrophy (SMA) show a beneficial effect on the maintenance of motor function in SMA patients. If approved, olesoxime could be the first treatment specifically developed for SMA patients.

10 Mar 2014

Plant pigment could prevent damage to nerves linked with childhood form of SMA

The research team have found that a plant pigment called quercetin - present in some fruits, vegetables, herbs and grains - could help to prevent damage to the nerves associated with the childhood form of motor neurone disease, spinal muscular atrophy (SMA).

5 Mar 2014