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Albuterol in Individuals With Late Onset Pompe Disease (LOPD)

Primary Purpose

Pompe Disease

Status

Completed

Phase

Phase 1

Locations

United States

Study Type

Interventional

Intervention

Albuterol

About this trial

This is an interventional treatment trial for Pompe Disease focused on measuring LOPD, Pompe Disease

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

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

Exclusion Criteria:

Continuous invasive ventilation (via tracheostomy or endotracheal tube)
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.
Chronic heart disease (Myocardial infarction, arrythmia, cardiomyopathy)
History of seizure disorder
Hypothyroidism
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.
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).

Sites / Locations

Duke University Medical Center

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Albuterol

Arm Description

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.

Outcomes

Primary Outcome Measures

Number of Participants with Adverse Events

Secondary Outcome Measures

Change in forced vital capacity at 3 months

Change in 6 minute walk test in 6 months.

Assessed by physical therapist.

Full Information

NCT ID

NCT01859624

First Posted

May 8, 2013

Last Updated

July 1, 2019

Sponsor

Duke University

1. Study Identification

Unique Protocol Identification Number

NCT01859624

Brief Title

Albuterol in Individuals With Late Onset Pompe Disease (LOPD)

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

Study Type

Interventional

2. Study Status

Record Verification Date

June 2019

Overall Recruitment Status

Completed

Study Start Date

June 2012 (undefined)

Primary Completion Date

April 2013 (Actual)

Study Completion Date

April 2013 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

Duke University

4. Oversight

Data Monitoring Committee

5. Study Description

Brief Summary

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Pompe Disease

Keywords

LOPD, Pompe Disease

7. Study Design

Primary Purpose

Treatment

Study Phase

Phase 1

Interventional Study Model

Single Group Assignment

Masking

None (Open Label)

Allocation

N/A

Enrollment

8 (Actual)

8. Arms, Groups, and Interventions

Arm Title

Albuterol

Arm Type

Experimental

Arm Description

Intervention Type

Drug

Intervention Name(s)

Albuterol

Intervention Description

Albuterol 4 mg

Primary Outcome Measure Information:

Title

Number of Participants with Adverse Events

Time Frame

24 weeks

Secondary Outcome Measure Information:

Title

Change in forced vital capacity at 3 months

Time Frame

Baseline and week 12

Title

Change in 6 minute walk test in 6 months.

Description

Assessed by physical therapist.

Time Frame

Baseline and 24 weeks

10. Eligibility

Sex

All

Minimum Age & Unit of Time

18 Years

Accepts Healthy Volunteers

Eligibility Criteria

Inclusion Criteria: Diagnosis of Pompe disease by blood acid alpha-glucosidase (GAA) assay and GAA gene sequencing Age: 18+ years at enrollment Exclusion Criteria: Continuous invasive ventilation (via tracheostomy or endotracheal tube) 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. Chronic heart disease (Myocardial infarction, arrythmia, cardiomyopathy) History of seizure disorder Hypothyroidism 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. 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).

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Dwight D Koeberl, MD, PhD

Organizational Affiliation

Duke University

Official's Role

Principal Investigator

Facility Information:

Facility Name

Duke University Medical Center

City

Durham

State/Province

North Carolina

ZIP/Postal Code

27710

Country

United States

12. IPD Sharing Statement

Citations:

PubMed Identifier

22154081

Citation

Koeberl DD, Li S, Dai J, Thurberg BL, Bali D, Kishnani PS. beta2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease. Mol Genet Metab. 2012 Feb;105(2):221-7. doi: 10.1016/j.ymgme.2011.11.005. Epub 2011 Nov 11.

Results Reference

background

PubMed Identifier

24443373

Citation

Koeberl DD, Austin S, Case LE, Smith EC, Buckley AF, Young SP, Bali D, Kishnani PS. Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. FASEB J. 2014 May;28(5):2171-6. doi: 10.1096/fj.13-241893. Epub 2014 Jan 17.

Results Reference

result

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Albuterol in Individuals With Late Onset Pompe Disease (LOPD)

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