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2 Years
Open (Enrolling)
Congenital Myasthenic Syndrome

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Trial Information

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 ( ,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.

Inclusion Criteria:

- Diagnosis of congenital myasthenic syndrome substantiated by typical clinical
history, seronegativity to AChR and MuSK, and evidence of a decremental EMG response.

Exclusion Criteria:

- Uncontrolled hypertension, arrhythmias, or other significant cardiac disease.

Type of Study:


Study Design:

Allocation: Non-Randomized, Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Outcome Measure:

Name: Efficacy of albuterol in the treatment of congenital myasthenic syndromes

Outcome Description:

The primary outcome measures pertain to evaluating the improvement in the patient's strength

Outcome Time Frame:

3 years

Safety Issue:



United States: Institutional Review Board

Study ID:




Start Date:

September 2010

Completion Date:

September 2013

Related Keywords:

  • Congenital Myasthenic Syndrome
  • Congenital myasthenic syndrome
  • Albuterol
  • Neuromuscular transmission
  • Lambert-Eaton Myasthenic Syndrome
  • Myasthenic Syndromes, Congenital



Mayo Clinic Rochester, Minnesota  55905