Trial record 2 of 10 for:    Congenital Myasthenia

Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes

This study has been completed.
Information provided by:
Mayo Clinic Identifier:
First received: September 15, 2010
Last updated: January 8, 2014
Last verified: January 2014

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.

Condition Intervention
Congenital Myasthenic Syndrome
Drug: Albuterol

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

Resource links provided by NLM:

Further study details as provided by Mayo Clinic:

Primary Outcome Measures:
  • 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

Enrollment: 21
Study Start Date: September 2010
Study Completion Date: August 2013
Primary Completion Date: August 2013 (Final data collection date for primary outcome measure)
Intervention Details:
    Drug: Albuterol
    4 mg twice daily by mouth for adults. The dose for children 6 to 12 years is 2 mg two or three times daily; the dose for children 2 to 6 years is 0.1 mg/kg/day (maximum 2 mg) three times daily.
    Other Name: Ventolin
Detailed Description:

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.


Ages Eligible for Study:   2 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01203592

United States, Minnesota
Mayo Clinic
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
Mayo Clinic
  More Information

No publications provided

Responsible Party: Andrew G. Engel, MD, Mayo Clinic Rochester Identifier: NCT01203592     History of Changes
Other Study ID Numbers: 10-004529
Study First Received: September 15, 2010
Last Updated: January 8, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Mayo Clinic:
Congenital myasthenic syndrome
Neuromuscular transmission

Additional relevant MeSH terms:
Myasthenic Syndromes, Congenital
Lambert-Eaton Myasthenic Syndrome
Pathologic Processes
Paraneoplastic Syndromes, Nervous System
Nervous System Neoplasms
Neoplasms by Site
Paraneoplastic Syndromes
Autoimmune Diseases of the Nervous System
Nervous System Diseases
Neurodegenerative Diseases
Neuromuscular Junction Diseases
Neuromuscular Diseases
Autoimmune Diseases
Immune System Diseases
Genetic Diseases, Inborn
Bronchodilator Agents
Autonomic Agents
Peripheral Nervous System Agents
Physiological Effects of Drugs
Pharmacologic Actions
Anti-Asthmatic Agents
Respiratory System Agents
Therapeutic Uses
Tocolytic Agents
Reproductive Control Agents
Adrenergic beta-2 Receptor Agonists processed this record on September 18, 2014