Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes
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.
|Study Design:||Allocation: Non-Randomized
Endpoint Classification: Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
- Name: Efficacy of albuterol in the treatment of congenital myasthenic syndromes [ Time Frame: 3 years ] [ Designated as safety issue: Yes ]The primary outcome measures pertain to evaluating the improvement in the patient's strength
|Study Start Date:||September 2010|
|Estimated Study Completion Date:||September 2013|
|Estimated Primary Completion Date:||September 2013 (Final data collection date for primary outcome measure)|
The aim of the proposal is to evaluate the effects of albuterol, an adrenergic agonist, in the treatment of congenital myasthenic syndromes (CMS). Over the past 2 decades I found that some CMS patients refractory to or worsened by cholinergic agonists, namely those suffering from defects in acetylcholinesterase (AChE) or Dok-7, respond to ephedrine, a medication used for over half-a-century in the treatment of autoimmune myasthenia gravis. After ephedrine became unavailable, I treated the same type of patients with albuterol in doses ranging from 4 mg daily to twice daily for adults; the dose for children 6 to 12 years is 2 mg two or three times daily; the dose for children 2to 6 years is 0.1 mg/kg/day (maximum 2 mg) three times daily. Evaluation of the effects of the medications are based on the Table shown below.
Mayo Clinic no:
Date of this report: (dd/mm/yyyy):
Before taking Albuterol ER On Albuterol (date of this report)
- Current daily dose of albuterol:
Dates when started (d/m/year) Daily dose Distance in feet walked without stopping to rest Number of steps climbed without stopping to rest Difficult to sit up from lying on back* Difficult to rise from sitting* Difficult to speak or swallow* Shortness of breath on exertion* Shortness of breath at night* Weakness of arm or hand muscles * Weakness of leg or foot muscles*
*Rate as mild, moderate, severe Describe below any additional changes in your condition such as arm elevation time, number of deep knee bends before having to stop, or in activities of daily living relevant to the effects of the treatment. Also indicate any unwanted side effects of the medication. Continue on other side or separate page if necessary. Return this questionnaire to Dr. Andrew Engel (email:firstname.lastname@example.org) ,after treatment with albuterol for 1 month and then monthly thereafter, or mail to Dr. Andrew Engel, Department of Neurology, Mayo Clinic, Rochester, MN 55905.
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|Contact: Andrew G. Engel, MD 507-284-5102 email@example.com|
|Principal Investigator: Andrew G. Engel, MD|