Neuromuscular Studies

 
 
Identification of Diagnostic and Prognostic Biomarkers from Amyotrophic Lateral Sclerosis (ALS) Skin and Adipose Samples
 
The main purpose of the study is to collect tissue samples for genetic and biomarker analysis. 
 
Qualified participants
  • Have a diagnosis of ALS
  • Will be undergoing a scheduled feeding tube placement at UMC
For more information, see the contact information below. 
 

 
3,4 diaminopyridine for Lambert-Eaton Myasthenic Syndrome and Congenital Myasthenic Syndromes
 
The purpose of this study is to provide symptomatic treatment for patients with LEMS and CMS with the medication 3,4 DAP. This medication enhances the effects of pyridostigmine. 
 
Qualified participants
  • Have a confirmed diagnosis of LEMS or CMS
  • Will have significant symptomatic weakness despite treatment with immune therapy or pyridostigmine
Children or adults are welcome to participate.
 
For more information, see the contact information below. 
 

 
Alglucosidase Alfa Temporary Access Program
 
The purpose of this study is to provide enzyme replacement therapy to patients with Pompe disease. This study currently running but is closed to new subject enrollment. 
 

For more information about the above research studies, please contact Dr. Katalin Scherer (520)874-2747 or  Eddie Soto, Research Specialist, (520)626-3576