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Albuterol in Individuals With Late Onset Pompe Disease (LOPD)

This study has been completed.
Information provided by (Responsible Party):
Duke University Identifier:
First received: May 8, 2013
Last updated: February 11, 2016
Last verified: January 2016
Albuterol is a drug approved by the US Food and Drug Administration (FDA) for treating breathing problems such as asthma. Studies have shown that albuterol may be beneficial in improving muscle function in people with late-onset Pompe disease. The purpose of this study is to evaluate whether albuterol is safe and effective for improving muscle function in people with late-onset Pompe disease, whether or not they are receiving enzyme replacement therapy (ERT). For this study, albuterol is considered an investigational drug. The word "investigational" means albuterol is not approved by the FDA for individuals with late-onset Pompe disease.

Condition Intervention Phase
Pompe Disease Drug: Albuterol Phase 1

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Clinical Investigation of the Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease, Whether or Not Receiving Enzyme Replacement Therapy

Resource links provided by NLM:

Further study details as provided by Duke University:

Primary Outcome Measures:
  • Number of Participants with Adverse Events [ Time Frame: 24 weeks ]

Secondary Outcome Measures:
  • Change in forced vital capacity at 3 months [ Time Frame: Baseline and week 12 ]
  • Change in 6 minute walk test in 6 months. [ Time Frame: Baseline and 24 weeks ]
    Assessed by physical therapist.

Enrollment: 8
Study Start Date: June 2012
Study Completion Date: April 2013
Primary Completion Date: April 2013 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Albuterol
This study includes the off-label administration of oral albuterol (4 mg pill) and tracking the effect of motor function at two additional visits, 6 and 12 weeks following the initiation of the study drug. The initial dose of albuterol will be a 4 mg daily for the first 6 weeks. If the 4 mg is well tolerated, the dose will be increased to 8 mg at the 6 week visit.
Drug: Albuterol
Albuterol 4 mg


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  1. Diagnosis of Pompe disease by blood acid alpha-glucosidase (GAA) assay and GAA gene sequencing
  2. Age: 18+ years at enrollment

Exclusion Criteria:

  1. Continuous invasive ventilation (via tracheostomy or endotracheal tube)
  2. Clinically relevant illness within two weeks of enrollment including fever > 38.2o C, vomiting more than once in 24 hours, seizure, or other symptom deemed contraindicative to new therapy.
  3. Chronic heart disease (Myocardial infarction, arrythmia, cardiomyopathy)
  4. History of seizure disorder
  5. Hypothyroidism
  6. Pregnancy/Breast Feeding [Women of childbearing potential must have a negative urine pregnancy test at each study visit. In addition, at Screening/Baseline women of childbearing potential must have been using a medically acceptable contraceptive for at least 3 months prior to study enrollment OR the subject a) has a regular menstrual cycle, b) Day 1 (onset of menses) for the current cycle is known, and c) the urine pregnancy test can be administered within the first two weeks of the current cycle (between Days 1 and 14)]. The urine pregnancy test will be administered and interpreted by Stephanie Dearmey, Physician Assistant (PA-C), who has completed training from the Department of Obstetrics and Gynecology. Mrs. Dearmey will use a commercially available test kit specified by the point-of-care testing policies. If these criteria for urine pregnancy testing are not met at the Screening/Baseline visit, then a blood pregnancy test will be done.
  7. Patients on a non-standard schedule for ERT; for example, weekly infusions as opposed to infusions every two weeks.

The use of the following concommitant meds is prohibited during the study:

  • diuretics (water pill);
  • digoxin (digitalis, Lanoxin);
  • beta-blockers such as atenolol (Tenormin), metoprolol (Lopressor), and propranolol (Inderal);
  • tricyclic antidepressants such as amitriptyline (Elavil, Etrafon), doxepin (Sinequan), imipramine (Janimine, Tofranil), and nortriptyline (Pamelor);
  • Monoamine oxidase (MAO) inhibitors such as isocarboxazid (Marplan), phenelzine (Nardil), rasagiline (Azilect), selegiline (Eldepryl, Emsam), or tranylcypromine (Parnate); or
  • other bronchodilators such as levalbuterol (Xopenex), bitolterol (Tornalate), pirbuterol (Maxair), terbutaline (Brethine, Bricanyl), salmeterol (Serevent), isoetherine (Bronkometer), metaproterenol (Alupent, Metaprel), or isoproterenol (Isuprel Mistometer).
  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: NCT01859624

United States, North Carolina
Duke University Medical Center
Durham, North Carolina, United States, 27710
Sponsors and Collaborators
Duke University
Principal Investigator: Dwight D Koeberl, MD, PhD Duke University
  More Information

Responsible Party: Duke University Identifier: NCT01859624     History of Changes
Other Study ID Numbers: Pro00034177
Study First Received: May 8, 2013
Last Updated: February 11, 2016

Keywords provided by Duke University:
Pompe Disease

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
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
Adrenergic Agents
Neurotransmitter Agents
Molecular Mechanisms of Pharmacological Action processed this record on September 21, 2017