View clinical trials related to Myasthenic Syndromes, Congenital.
Filter by:Lambert Eaton Myasthenic Syndrome (LEMS) is rare neurological disorder that results in muscle weakness and limited reflex activity. More than half of LEMS cases are associated with a malignancy, usually small cell lung cancer, and tend to progress more quickly than cases not coupled with malignant cells. 3,4diaminopyridine (3,4DAP)is a drug that has been demonstrated to be effective in treating the weakness associated with LEMS as it increases strength and improves autonomic symptoms in LEMS patients. It is not currently approved by the FDA for use in the United States. The investigators plan to use 3,4DAP to treat patients with LEMS here at the Columbia University MDA/ALS Research Center.
The study tests the notion that patients suffering from certain types of congenital myasthenic syndromes are benefitted by the use of Albuterol at doses used in clinical practice.
The purpose of this study is to determine the effectiveness and adverse effects of 3,4-diaminopyridine for the treatment of the Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenic Syndromes (CMS).
Previous research has demonstrated possible efficacy of Ephedrine in the treatment of congenital myasthenia caused by end-plate acetylcholinesterase deficiency. The aim of the current study is to test the hypothesis that Ephedrine may be beneficial to these patients. To test this hypothesis we will perform a double blind, placebo-controlled, crossover study clinical efficacy and safety study. Drug naïve patients who agree to participate will be randomized to two groups. Each group will be treated in a blinded manner for 5 weeks with either placebo or Ephedrine HCl in an escalating dose up to 100 mg per day divided in two doses. After five weeks the groups will cross over and continue treatment or placebo for a further five weeks. Evaluations of strength and fatiguability will be done at baseline, at the end of each five week period and after a further two weeks. Safety will be assessed weekly by the investigators using interview and physical examination. Outcome measures will include Barthel index, Quality of life questionnaire, Timed up and go, spirometry, timed elevation of limbs, and force measurements. All patients will report to the clinic as per study schedule (See Appendix A). Specifically, the 12 clinic visits will include: baseline (1), safety and efficacy assessments(10) and closeout (1).