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Ricardo Maselli - Congenital myasthenic syndrome

Partner

Not provided

Rare Disease

Congenital myasthenic syndrome

Sponsor

Ricardo Maselli

Access Program Information

Congenital myasthenia and LEMS are potentially lethal disorder, which, even with careful management, significantly impedes participation in normal daily functions. Currently approved therapies have had little impact on promoting a normal quality of life activity in these patients. The goal is to systematically examine the effect of 3,4-DAP on the natural course of this disease and to gain additional experience in titrating 3,4-DAP with other available therapies to maximize clinical function and development in this patient population. The specific aim of this study is to evaluate the use of 3,4 Diaminopyridine (DAP) on selected patients proven by genetic or serum antibody testing to have Congenital Myasthenic Syndrome (CMS) or Lambert-Eaton Myasthenic Syndrome (LEMS). We will evaluate the patient for CMS or LEMS, prescribe 3,4 DAP, and then clinically evaluate the response.

Contact

Contact: Janelle Butters, RN (916-734-6276)

Locations
  • United States
  • Sacramento, California, United States

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