http://www.mda.org/whatsnew/default.htm 12/30/2008 Get the latest research news from the Muscular Dystrophy Association (MDA) en-us http://www.mda.org/research/081230mmd-blocking-CUG-repeats.html 12/30/2008 The identification of small molecules that can block the genetic defect that causes type 1 myotonic dystrophy (MMD1, or DM1) may be the first step toward developing a new drug treatment for the disease, say researchers at the University of Rochester (N.Y.) Medical Center (URMC). http://www.mda.org/research/081229dmd-sarcospan.html 12/29/2008 The small protein sarcospan appears to have much more potential as a treatment for Duchenne muscular dystrophy (DMD) and perhaps other types of muscular dystrophy (MD) than previously believed, say researchers at the University of California-Los Angeles. http://www.als-mda.org/research/news/081222als-diaphragm-pacing.html 12/22/2008 Raymond Onders, director of Minimally Invasive Surgery at University Hospitals Case Medical Center in Cleveland, presented data at the 19th International Symposium on ALS on 88 patients who were involved in trials of an implanted diaphragm pacing system. http://www.mda.org/research/081218blood-vessel-narrowing.html 12/18/2008 Missing or reduced levels of an enzyme known as neuronal nitric oxide synthase (nNOS) at its normal location on muscle-fiber membranes prevents blood vessels that supply active muscles from relaxing normally, leading to exercise-associated fatigue, says a team of researchers from the University of Iowa, the University of Michigan and the University of Washington School of Medicine. http://www.mda.org/research/081215dmd-utrophin.html 12/15/2008 MDA-supported researchers at the Montreal Neurological Institute of McGill University substantially improved muscle health and resistance to mechanical stress in mice with a disease resembling human Duchenne muscular dystrophy (DMD) by increasing production and distribution of the protein utrophin. http://www.als-mda.org/research/news/081210mda-finding-harvard-top10.html 12/10/2008 A stem-cell research advance published in July 2008 that resulted in part from MDA support is among the top 10 health stories of the year compiled by the editors of the Harvard Health Letter. http://www.als-mda.org/research/news/081209als-vegf-b.html 12/9/2008 A protein called VEGF-B (vascular endothelial growth factor B) protects nerve cells that control muscle action and prolongs the lives of rats with a genetic disease resembling human ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease), an MDA-supported research team has found. http://www.mda.org/research/081205sma-neural-stem-cells.html 12/5/2008 Mice with a disease resembling human spinal muscular atrophy (SMA) that were treated with specialized stem cells lived 39 percent longer and showed better neuromuscular function than did untreated mice, lending support for development of this type of therapy for SMA. http://www.als-mda.org/research/news/081202cells_injected.html 12/2/2008 Transplantation of immature nervous-system support cells slowed the loss of motor neurons (nerve cells controlling muscle activity) in rats engineered to have a disease resembling human ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease), says a team of researchers from the Johns Hopkins School of Medicine in Baltimore and Invitrogen Corp. in Carlsbad, Calif. http://www.als-mda.org/research/news/081202tissue_damaged.html 12/2/2008 Damage to muscle fibers may play an earlier and larger role in ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease) than previously believed, according to a multinational team of researchers coordinated by MDA grantee Antonio Musaro at the University of Rome (Italy). http://www.mda.org/research/081126immune_attach.html 11/26/2008 Immune-system proteins called antibodies that stick to and destroy an enzyme known as muscle-specific kinase (MuSK) have been identified beyond a reasonable doubt as the cause of myasthenia gravis (MG) in about 10 percent of people with the disease. http://www.mda.org/research/081124bmd-dmd-cardiomyopathies.html 11/24/2008 Cardiac muscle deterioration (cardiomyopathy) tends to follow a different course in children with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), and both courses are different from the progression of cardiomyopathy from other causes, according to a report published in the June issue of the American Heart Journal. http://www.mda.org/research/081120pompeenzyme.html 11/20/2008 Two children and one adult with Pompe disease (also called acid maltase deficiency who’ve been receiving long-term acid maltase enzyme replacement therapy have stabilized or improved, say researchers in the Netherlands, who published their findings in June in Neuromuscular Disorders. http://www.mda.org/research/081117cpt2-deficiency-symptoms.html 11/18/2008 Seven people with carnitine palmityl transferase 2 (CPT2) deficiency who took a special dietary supplement and followed a prescribed diet for seven months to five years found their exercise-associated muscle pain, as well as dangerous episodes of acute muscle breakdown, resolved. http://www.mda.org/research/081113fa-therapeutic-path.html 11/13/2008 Experiments examining the effects of iron chelation, a process that removes toxic levels of iron from cells, have provided insight to the potential therapeutic value of the process in Friedreich's ataxia (FA). http://www.als-mda.org/research/news/081112iplex_als.html 11/12/2008 The biopharmaceutical companies Insmed, Genentech and Ipsen/Tercica jointly announced this week that Insmed's drug Iplex may become available to people with ALS (amyotrophic lateral sclerosis) worldwide. http://www.als-mda.org/research/news/081111myotrophin_trial_als.html 11/11/2008 A nationwide team of investigators representing 21 U.S. centers announced Nov. 5 at the 19th International Symposium on ALS/MND in Birmingham, UK, that Myotrophin, injected subcutaneously (under the skin), does not slow the progression of weakness, prolong survival or slow functional deterioration for people with ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease). http://www.mda.org/research/081110edmd_PD98059.html 11/10/2008 Treatment with a compound that blocks a signaling pathway in the hearts of mice with a disease resembling human Emery-Dreifuss muscular dystrophy (EDMD) resulted in markedly improved cardiac function compared to that seen in untreated EDMD mice, say researchers at Columbia University in New York and the Institute of Myology in Paris. http://www.mda.org/research/081105missing-link-LRP4.html 11/05/2008 MDA grantee Lin Mei recently coordinated a team of scientists who identified a previously missing link necessary to the mechanism that allows signals to pass from nerve to muscle cells. Without these signals, muscles cannot contract. http://www.mda.org/research/081103AAV9.html 11/03/2008 Researchers at the University of Missouri, the University of North Carolina and Auburn University in Alabama have found that genes encased in a type 9 adeno-associated virus (AAV9) reached all the skeletal muscles of dogs after a single intravenous injection. http://www.mda.org/news/081015sma_website.html 10/15/2008 After many months of anticipation we are pleased to announce the unveiling of the new International Spinal Muscular Atrophy Patient Registry Web site! The Web site now allows individuals to participate in the Registry completely through on-line interaction including registering, completing questionnaires, learning about and signing up for new research study opportunities and completing annual information updates. http://www.als-mda.org/research/news/081014bone_marrow_stem_cells_als.html 10/14/2008 Six men with ALS (amyotrophic lateral sclerosis) who received intravenous infusions (transplantations) of donated bone-marrow stem cells failed to derive any apparent benefit from the cells, although the study showed that such cells can enter the central nervous system from the bloodstream. http://www.mda.org/research/081010mg-cellcept-trials.html 10/10/2008 Two large trials of the potent immunosuppressant myocophenolate mofetil (CellCept) in the autoimmune disease myasthenia gravis (MG) have, surprisingly, yielded results that suggest the drug is no better than standard treatment with the corticosteroid prednisone in this disease. http://www.mda.org/research/081009clinical_network.html 10/09/2008 The Muscular Dystrophy Association (MDA) has launched a unique Clinical Research Network to speed and support research into two forms of muscle-wasting disease. http://www.mda.org/research/081007Utrophin_gene_transfer.html 10/07/2008 A research team coordinated by MDA grantee Jeffrey Chamberlain at the University of Washington-Seattle found intravascular gene transfer with a miniaturized utrophin gene had roughly the same benefits as intravascular gene transfer with a miniaturized dystrophin gene in mice missing both utrophin and dystrophin and showing a severe disease resembling Duchenne muscular dystrophy (DMD). http://www.als-mda.org/research/news/081007Enzyme_flaws.html 10/07/2008 The search for genetic variations that predispose a person to developing ALS (amyotrophic lateral sclerosis) a paralyzing and ultimately fatal neurologic disease, has been complex and frustrating, although a few intriguing examples stand out as worthy of further investigation. http://www.als-mda.org/research/news/081002supercharged.html 10/02/2008 Scientists at the University of Wisconsin-Madison and institutions in the United Kingdom and Switzerland have shown that stem cells derived from human bone marrow and then engineered to produce a neuroprotective substance can significantly slow the course of a disease resembling human ALS (amyotrophic lateral sclerosis) in rats. http://www.mda.org/research/081002SMA_problem.html 10/02/2008 Spinal muscular atrophy (SMA), long believed to be caused by the loss of motor neurons (nerve cells that control muscle) in the spinal cord, may begin with events preceding motor neuron loss, according to a group of researchers coordinated by MDA grantee Umrao Monani at Columbia University in New York. http://www.als-mda.org/research/news/080922als_t_cells.html 09/22/2008 T cells, the foot soldiers of the immune system, are involved in protecting motor neurons (nerve cells that activate muscle) in ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease), a paralyzing neurologic disease, says a group of scientists led by MDA grantee Stanley Appel at Methodist Neurological Institute (MNI) in Houston. http://www.mda.org/research/080919boston-institute-md-center.html 09/19/2008 Boston Biomedical Research Institute (BBRI) in Watertown, Mass., recently was awarded $9 million by the U.S. National Institutes of Health (NIH) to become a Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center. http://www.mda.org/research/080915dmd-exon-skipping.html 09/15/2008 The Muscular Dystrophy Association today announced that researchers coordinated by MDA grantee Qi Long Lu at Carolinas Medical Center in Charlotte, N.C., have shown in mice that an experimental treatment for Duchenne muscular dystrophy (DMD) known as "exon skipping" can treat the heart, in addition to other muscles. Exon skipping tells cells to ignore, or "skip over," genetic errors. http://www.mda.org/research/080904fa-repligen.html 09/04/2008 The Muscular Dystrophy Association (MDA) announced today that it has awarded approximately $1 million to Repligen Corp. of Waltham, Mass., for development of new compounds to treat Friedreich's ataxia (FA). http://www.als-mda.org/research/news/080821als_tdi_tissue_collection.html 08/21/2008 Blood and tissue samples will be collected from people with ALS (amyotrophic lateral sclerosis) who are cared for at three of MDA's specialized ALS Centers as part of a collaborative effort between MDA and the ALS Therapy Development Institute (ALS TDI) of Cambridge, Mass. The Institute announced the collaboration Aug. 19. http://www.als-mda.org/research/news/080731als_skin_cells_mn.html 07/31/2008 MDA-supported scientists at Harvard University in Cambridge, Mass., and Columbia University in New York have created muscle-controlling nerve cells known as motor neurons from the skin cells of a patient with ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease). http://www.mda.org/research/080730fa-idebenone.html 07/30/2008 The Muscular Dystrophy Association (MDA) and the Friedreich's ataxia Research Alliance (FARA) announced this week that, on July 24, the antioxidant compound idebenone received conditional market approval for the treatment of Friedreich's ataxia (FA) in Canada but failed to obtain such approval in Europe. http://www.mda.org/research/080728lgmd2d-gene-therapy-trial.html 07/28/2008 Experiments conducted in mice suggest gene therapy for type 2D limb-girdle muscular dystrophy (LGMD2D) has the potential for safety and efficacy in humans with this serious muscle disease, says a new MDA-supported study. http://www.mda.org/research/080725ptc_receives_award.html 07/25/2008 PTC Therapeutics, a South Plainfield, N.J., biotechnology company testing an experimental medication for Duchenne muscular dystrophy (DMD), received the Art of Industry Partnership Award from the Genetic Alliance in Washington July 23. http://www.mda.org/research/080722dmd_ptc124_collaboration.html 07/22/2008 Genzyme Corp., a Cambridge, Mass.-based biopharmaceutical company, will collaborate with PTC Therapeutics of South Plainfield, N.J., to develop PTC124 for Duchenne muscular dystrophy (DMD), cystic fibrosis and other genetic disorders. http://www.mda.org/research/080710sma-severity-protein.html 07/10/2008 Researchers at several German and U.S. institutions announced they have identified a protein that can almost completely compensate for the genetic defect that causes chromosome-5-linked spinal muscular atrophy (SMA), which is by far the most common type of the disease. http://www.als-mda.org/research/news/080708als_gulf_war.html 07/08/2008 U.S. veterans of the first Gulf War don't have a permanently increased chance of developing ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease), according to a new study supported by the Department of Veterans Affairs and the Department of Defense and published online June 6 in Neuroepidemiology. http://www.mda.org/research/080707type1_mmd_risk.html 07/07/2008 Adults with type 1 myotonic dystrophy (MMD1, or DM1) and either a severely abnormal electrocardiogram (ECG) or a diagnosis of so-called atrial tachyarrhythmia (an abnormally fast, irregular heart rate originating in the upper chamber, or atrium, of the heart) are at significantly higher than average risk of sudden death, according to a study in the June 19 issue of the New England Journal of Medicine. http://www.als-mda.org/research/news/080627als_10_lithium_trials.html 06/27/2008 An MDA-supported trial of lithium carbonate in ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease) is now open at 10 medical centers across the United States. http://www.mda.org/research/080627lgmd1a_myotilin.html 06/27/2008 Overproduction of the protein myotilin worsens the symptoms of type 1A limb-girdle muscular dystrophy (LGMD1A) in mice, say researchers at Duke University in Durham, N.C., who published their findings in the May issue of Muscle and Nerve. MDA supported Michael Hauser at the Center for Human Genetics at Duke for this work. http://www.mda.org/research/080513dmd_bmd_viagra.html 05/13/2008 Treatment with sildenafil (Viagra) significantly improved heart function in mice with a disease resembling Duchenne muscular dystrophy (DMD) due to the absence of the protein dystrophin, suggesting a possible new approach to treating cardiac deterioration in humans with the disease. http://www.als-mda.org/research/news/080507als_lithium_trial.html 05/07/2008 An MDA-supported clinical trial of lithium carbonate, a medication commonly used to treat bipolar disorder, is set to begin in people with ALS following reports that the drug may dramatically slow the progress of this devastating, paralyzing disease. http://www.mda.org/research/080428aan_meeting_report.html 04/28/2008 The 60th annual meeting of the American Academy of Neurology (AAN) was held in Chicago April 12-19. Valerie Cwik, MDA medical director and vice president-research, attended the meeting. http://www.mda.org/research/080424sma_care_standard.html 04/24/2008 The Patient Advisory Group of the International Coordinating Committee (ICC) for SMA Clinical Trials has published a family-friendly set of guidelines for care in spinal muscular atrophy (SMA) to complement the physician guidelines published in August. http://www.als-mda.org/research/news/080423coenzyme.html 04/23/2008 Principal investigator Petra Kaufmann at Columbia University Medical Center in New York, with colleagues at 19 U.S. centers, have found that high-dose coenzyme Q10 (coQ10) is not promising enough to warrant further study as a treatment for ALS (amyotrophic lateral sclerosis, or Lou Gehrig’s disease). http://www.mda.org/research/080415dmd_prednisone.html 04/15/2008 Two days a week of the corticosteroid prednisone at a high dose appears to be almost as beneficial as a daily moderate dose of the drug in boys with Duchenne muscular dystrophy (DMD), and some side effects may be less severe, investigators reported today at the 60th annual meeting of the American Academy of Neurology in Chicago. http://www.als-mda.org/research/news/080408blood-spinal_cord_als.html 04/08/2008 A research team that included MDA grantees M. Kerry O'Banion at the University of Rochester (N.Y.) Medical Center and Severine Boillee at the University of California-San Diego has found that leaks in the blood vessels of the spinal cord precede damage to the nervous system in ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease) in mice with a genetic form of this paralyzing disorder. http://www.mda.org/research/080403lgmd_dmd_debio-025.html 04/03/2008 A compound that protects cellular structures known as mitochondria from damage is beneficial in mice with two forms of muscular dystrophy, investigators have found. http://www.mda.org/research/080331_dmd-bmd.html 03/31/2008 The exciting progress being made in MDA-sponsored research into treatments for Duchenne and Becker muscular dystrophies (DMD and BMD) is detailed in a one-time publication, the "Duchenne-Becker MDA Special Report." http://www.mda.org/research/080319gene_repair.html 03/19/2008 Researchers in the laboratory of Eric Kmiec at the University of Delaware in Newark say they've developed a gene repair method that has the potential to improve the prognosis in spinal muscular atrophy (SMA), a disease in which muscle-controlling nerve cells (motor neurons) are lost and muscles become weak and atrophied. http://www.mda.org/research/080317myostatin_blocking.html 03/17/2008 Two sets of experiments investigating the effects of interfering with myostatin, a protein that limits muscle growth, have shown that this approach may have to be individualized with respect to different types and stages of muscular dystrophy, and that some myostatin suppression strategies may be better than others. http://www.mda.org/research/080314fshd_mmd_pain.html 03/14/2008 Chronic pain of long duration is common in adults with myotonic muscular dystrophy (MMD) and facioscapulohumeral muscular dystrophy (FSHD), and it generally worsens as disability level increases, say investigators at the University of Washington-Seattle and the University of California-Davis. http://www.mda.org/research/080311md_myo-029.html 03/11/2008 Wyeth Pharmaceuticals of Madison, N.J., has announced it will not continue development of its experimental compound MYO-029 for muscular dystrophy. http://www.mda.org/research/080311pfizer_award_gregorevic.html 03/11/2008 MDA research grantee Paul Gregorevic, who recently relocated from the University of Washington-Seattle to the Baker Heart Research Institute in Melbourne, Australia, has received a $1 million award from Pfizer Australia to develop gene-based therapies for muscle disease. http://www.als-mda.org/research/news/080306nerve_cells.html 03/06/2008 Researchers in the laboratory of Don Cleveland at the University of California-San Diego have further extended the suspected role of astrocytes, a type of nervous-system “support” cell, in amyotrophic lateral sclerosis (ALS). http://www.mda.org/research/080303mmd1_sleep.html 03/03/2008 An abnormally low level of a protein called hypocretin 1, which is associated with a sleep disorder known as narcolepsy, doesn't play a role in the excessive daytime sleepiness reported by many people with type 1 myotonic muscular dystrophy (MMD1), says a study in the Jan. 15 issue of Neurology. http://www.als-mda.org/research/news/080229als_tdp-43.html 02/29/2008 Nigel Cairns at Washington University School of Medicine in St. Louis, with colleagues there and at several other U.S. institutions, announced online Feb. 20 in Annals of Neurology that a mutation in the gene for the TDP-43 protein is the cause of amyotrophic lateral sclerosis (ALS) in a family of European descent with four affected members. http://www.mda.org/research/080228tendons_myostatin.html 02/28/2008 Blocking the protein myostatin as a possible way of increasing muscle mass and strength has been a goal of clinical and laboratory research in the muscular dystrophies for several years. However, new results from the University of Michigan reveal a previously unrecognized downside of myostatin blocking. http://www.als-mda.org/research/news/080226als_axon_guidance.html 02/26/2008 Investigators at the Mayo Clinic in Rochester, Minn., and the University of Miami have applied a new approach to studying genetic variants that may play a role in ALS and say genes involved in "axon guidance" are significantly different in people with ALS. http://www.als-mda.org/research/news/080219nerve_muscle_signals_ALS.html 02/19/2008 Researchers in the laboratory of MDA-supported Lin Mei at the Medical College of Georgia in Augusta have found that muscle fibers do more than passively receive signals from nerve fibers that tell them to contract or relax. http://www.mda.org/research/080211mmd_mouse.html 02/11/2008 MDA grantee Thomas Cooper at Baylor College of Medicine, with colleagues there and in France, has added a new piece to the puzzle of type 1 myotonic dystrophy (MMD1) that may help explain some of the differences between it and the type 2 form of the disease (MMD2), and could ultimately lead to treatment advances. http://www.als-mda.org/research/news/080204Lithium_slows_ALS.html 02/04/2008 Daily doses of lithium, a drug used to treat bipolar disorder, have been found to delay progression of amyotrophic lateral sclerosis (ALS) in an Italian study of 44 people with the disease. http://www.mda.org/research/080128Dystrophin_DMD.html 01/28/2008 An MDA-supported trial to transfer genes for the muscle protein dystrophin, needed but missing in Duchenne muscular dystrophy (DMD), has shown that the procedure is safe and well tolerated in six boys. Researchers plan to test three additional patients at a higher dosage level. http://www.als-mda.org/research/news/080125new_ALS_lead.html 01/25/2008 Investigators at the University of Iowa led by molecular biologist John Engelhardt say they’ve uncovered an unexpected protein-protein interaction that appears to open a new avenue in the study of amyotrophic lateral sclerosis (ALS). Their results were published online yesterday in the Journal of Clinical Investigation. http://www.als-mda.org/research/news/080125ALS_mice.html 01/25/2008 Failure to recognize differences in the genetic makeup of mice used to test drugs for amyotrophic lateral sclerosis (ALS) may have biased studies conducted in rodents in a way that made ineffective drugs look beneficial, investigators say. http://www.als-mda.org/research/news/080125arimoclomol_trial.html 01/25/2008 Further clinical testing of the drug arimoclomol, an experimental compound developed by CytRx Corp. of Los Angeles to treat amyotrophic lateral sclerosis (ALS), has been placed on hold by the Food and Drug Administration (FDA). http://www.mda.org/research/080103dmd_concept_proof.html 01/25/2008 The Dec. 27 issue of the prestigious New England Journal of Medicine featured encouraging results of a phase 1 clinical trial of an exon skipping compound in four boys with Duchenne muscular dystrophy (DMD). http://www.als-mda.org/research/news/080122appel_mcgovern_award.html 01/22/2008 Neurologist Stanley H. Appel, chairman of MDA's Medical Advisory Committee, director of the MDA/ALS Center at the Methodist Neurological Institute in Houston, and a long-time MDA research grantee, will receive the prestigious John P. McGovern Compleat Physician Award for 2008 on Jan. 25. http://www.mda.org/research/080110sma_x-linked.html 01/10/2008 Flaws in a gene known as UBE1 have been identified as the cause of a rare, X-chromosome-linked form of spinal muscular atrophy (SMA), a severe neurodegenerative disease, the Muscular Dystrophy Association (MDA) announced today. http://www.mda.org/research/080104Louis_M_Kunkel.html 01/04/2008 The Muscular Dystrophy Association (MDA) announced today that it has appointed Louis M. Kunkel as chairman of its Scientific Advisory Committee. http://www.mda.org/research/080104anesthesia_care.html 01/04/2008 MDA, in collaboration with the American College of Chest Physicians, has issued a consensus statement on management of patients with Duchenne muscular dystrophy (DMD) undergoing anesthesia or sedation. http://www.mda.org/research/080102overproduction_heart_protein.html 01/02/2008 Overproduction of a protein crucial for the development of the heart is yet another result of the genetic defect that underlies type 1 myotonic dystrophy (MMD1), MDA research grantees report.