An MDA-supported research team has added mutations in titin, a gene for a protein involved in muscle contraction, to the known causes of centronuclear myopathy
Researchers in the United States and France, supported in part by MDA, have established that mutations in the titin gene are a cause of centronuclear myopathy (CNM), a group of muscle disorders characterized by variable degrees of weakness and cell nuclei that are abnormally located toward the center of muscle fibers rather than around the perimeter.
50 women are needed to fill out a questionnaire about the effects of myotonia congenita and paramyotonia congenita on pregnancy and delivery — and vice versa
Investigators at the University of Rochester (N.Y.) are seeking participants for a questionnaire-based study of pregnancy and delivery in women with nondystrophic myotonias. No travel is required.
Nondystrophic myotonias included in this study are:
A $1.2 million MDA grant will help move an experimental cell-penetrating treatment for myotubular myopathy toward human testing
The Muscular Dystrophy Association has awarded $1,195,762 over two years to biotechnology company Valerion Therapeutics (formerly 4s3 Bioscience) for development of a treatment for myotubular myopathy (MTM).
MDA partnered with a French muscle disease association to host a symposium on advancing gene therapy for neuromuscular diseases
Planning for the next generation of gene and stem cell therapies for muscular dystrophies — even as the first generation is still under development — was the theme of a joint symposium sponsored by MDA and the Association Française Contre les Myopathies (French Association Against Myopathies, or AFM) at the 16th annual meeting of the American Society of Gene & Cell Therapy (ASGCT).
Researchers conducting a study of medical changes and complications in myotubular myopathy (MTM) are seeking individuals with MTM or their parents for 12 monthly phone interviews
The Myotubular Myopathy Event Study, a telephone-based survey, will gather information about MTM-associated events, such as emergency room visits, hospitalizations, medication reactions, and complications from medical procedures, as well as improved or declined motor and respiratory function.
Drug testing for Duchenne MD, Leigh syndrome and Pompe disease moves forward; and two MDA-supported mouse studies suggest leads for myasthenia gravis and periodic paralysis
Drug development and identifying new leads for possible drug development are in the news for five neuromuscular diseases in MDA’s program.
Disease registry seeks input from people with congenital muscular dystrophies, congenital myasthenic syndromes or other congenital muscle disorders, including those with no clear diagnosis
An international patient registry (database) is gathering information about children and adults with any form of congenital muscular dystrophy (CMD), a congenital myasthenic syndrome or a congenital myopathy (congenital muscle disease), with the goals of promoting research and improving care in these disorders.