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Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01203592
First Posted: September 16, 2010
Last Update Posted: January 1, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by (Responsible Party):
Andrew Engel, Mayo Clinic
  Purpose
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 Phase
Congenital Myasthenic Syndrome Drug: Albuterol Phase 1

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes

Resource links provided by NLM:


Further study details as provided by Andrew Engel, Mayo Clinic:

Primary Outcome Measures:
  • Name: Efficacy of albuterol in the treatment of congenital myasthenic syndromes [ Time Frame: 3 years ]
    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)
Arms Assigned Interventions
Experimental: 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.
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 2 to 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.

Name:

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:schaefer.cleo@mayo.edu) ,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.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   2 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01203592


Locations
United States, Minnesota
Mayo Clinic
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
Mayo Clinic
Investigators
Principal Investigator: Andrew G Engel, MD Mayo Clinic
  More Information

Responsible Party: Andrew Engel, PI, Mayo Clinic
ClinicalTrials.gov Identifier: NCT01203592     History of Changes
Other Study ID Numbers: 10-004529
First Submitted: September 15, 2010
First Posted: September 16, 2010
Last Update Posted: January 1, 2016
Last Verified: December 2015

Keywords provided by Andrew Engel, Mayo Clinic:
Congenital myasthenic syndrome
Albuterol
Neuromuscular transmission

Additional relevant MeSH terms:
Syndrome
Lambert-Eaton Myasthenic Syndrome
Myasthenic Syndromes, Congenital
Paraneoplastic Syndromes, Nervous System
Paraneoplastic Syndromes
Disease
Pathologic Processes
Nervous System Neoplasms
Neoplasms by Site
Neoplasms
Autoimmune Diseases of the Nervous System
Nervous System Diseases
Neurodegenerative Diseases
Neuromuscular Junction Diseases
Neuromuscular Diseases
Autoimmune Diseases
Immune System Diseases
Genetic Diseases, Inborn
Albuterol
Bronchodilator Agents
Autonomic Agents
Peripheral Nervous System Agents
Physiological Effects of Drugs
Anti-Asthmatic Agents
Respiratory System Agents
Tocolytic Agents
Reproductive Control Agents
Adrenergic beta-2 Receptor Agonists
Adrenergic beta-Agonists
Adrenergic Agonists