Clinical Trial: Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia and Lambert-Eaton Syndrome
Study Status: Available
Recruit Status: Available
Study Type: Expanded Access: Available for Individual Patients, Treatment IND/Protocol
Official Title: Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia and Lambert-Eaton Syndrome
Brief Summary:
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.
Detailed Summary:
The subject population will consist of selected patients proven by genetic testing, muscle biopsy or antibody testing to have CMS or LEMS. Consideration for entry in our clinical study will require referral from a treating pediatrician or neurologist. Dr. Maselli will examine patients and deem which are appropriate for neurophysiologic examinations at the University of California, Davis Medical Center. In vitro neuromuscular recordings of anconeus muscle biopsy material (as well as standard light and electron morphologic analysis) or documentation of a genetic mutation associated with congenital myasthenia will be required in some patients to confirm the diagnosis of CMS.
If a participant decides to volunteer, and if the diagnosis of Congenital Myasthenic Syndrome (CMS) or Lambert-Eaton Myasthenic Syndrome (LEMS) has not been established, the participant may need to undergo a muscle biopsy or a blood sampling for DNA testing. The investigators will also obtain a blood test before participants start treatment and annually after participants start treatment. Participants will have an electrocardiograph (EKG) before starting treatment, and every 2 years after that. All study participants will then return to the clinic once each year (or more often if the neurologist feels it is necessary) for follow-up care. Participants will have a blood test at each annual visit.
Participants will receive treatment with the study drug until it is approved by the FDA for use in patients with CMS or LEMS, until the investigator stops the study drug (because it doesn't work for the participant or it is unsafe for to take), or until the study is ended for other reasons (i.e. safety concerns are discovered, etc.), whichever comes first. Participants will be allowed to stay on other medications for myasthenia or add other medications to treat the
Sponsor: Ricardo Maselli
Current Primary Outcome:
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Information By: University of California, Davis
Dates:
Date Received: February 21, 2017
Date Started:
Date Completion:
Last Updated: May 11, 2017
Last Verified: February 2017
