The MDA Quest Newsletter is reaching out to adults with nonspecific diagnoses of muscular dystrophy or myopathy for a phone study held by New York University and funded by Genzyme Corp. If you are 18 years old and older and have an unconfirmed or unclassified diagnosis of LGMD, myotonic dystrophy, Emery-Dreifuss MD, oculopharyngeal MD, distal MD, facioscapulohumeral MD, polymyositis, hyperthyroid myopathy, hypothyroid myopathy, mitochondrial myopathy, or another unclassified myopathy please consider taking part in this study.
The basis of the study is to learn if adults with non-specific MD diagnosis may actually have late-onset Pompe disease, which has symptoms similar to the diagnosis listed above. Since late-onset Pompe disease can be treated with enzyme therapy, the earlier a diagnosis is made, the better. Genzyme Corp. has developed enzyme replacement therapies for Pompe disease.
You’ll begin with a phone interview and if accepted, (and with your consent) a blood sample will be requested. A kit will be sent to your home so you can have the blood drawn at a lab close to you. There is no need for travel to New York City. You’ll also be asked to fill out a questionnaire, and provide medical records all at no cost to you.
If interested, please contact Edward Nunziato, research assistant in the Division of Neurogenetics at New York University School of Medicine at firstname.lastname@example.org (preferred) or (212)263-5912.
For more information about this study, please see the article from the MDA Quest online.