Safety and Efficacy of Albuterol in Individuals With Late-onset Pompe Disease

Phase 1

Completed

Conditions: Pompe Disease

Interventions: Drug: Placebo
Drug: Albuterol

Registration Number: NCT01885936

Lead Sponsor: Duke University

Brief Summary: In this study the study team proposes to investigate the efficacy of albuterol on motor function of individuals with Late Onset Pompe Disease (LOPD) who are receiving enzyme replacement therapy, given albuterol was well-tolerated in patients with Late Onset Pompe Disease.

Detailed Description: Not available

Recruitment & Eligibility

Status: COMPLETED

Sex: All

Target Recruitment: 16

Inclusion Criteria

Diagnosis of Pompe disease by blood acid alpha-glucosidase assay and acid alpha-glucosidase gene sequencing,
Age: 18+ years at enrollment.
Receiving enzyme replacement therapy at standard dose (20 mg/kg every 2 weeks) for at least 52 weeks.
Subjects are capable of giving written consent.

Exclusion Criteria

Continuous invasive ventilation (via tracheostomy or endotracheal tube).
Clinically relevant illness within two weeks of enrollment including fever > 38.2 C, vomiting more than once in 24 hours, seizure, or other symptom deemed contraindicative to new therapy.
Chronic heart disease (Myocardial infarction in the past 2 months, arrhythmia, cardiomyopathy).
History of seizure disorder.
History of diabetes.
Hypokalemia.
History of hyperthyroidism.
Pregnancy.
Patients on a non-standard schedule for enzyme replacement therapy; for example, weekly infusions as opposed to infusions every two weeks.
Anti-rhGAA antibody titer > 1:100,000
History of hypersensitivity to Beta 2-agonist drugs such as albuterol, levalbuterol (Xopenex), bitolterol (Tornalate), pirbuterol (Maxair), terbutaline, salmeterol (Serevent)..
The use of the following medications:
- 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 inhibitors such as isocarboxazid (Marplan), phenelzine (Nardil), rasagiline (Azilect), selegiline (Eldepryl, Emsam), or tranylcypromine (Parnate); or
- bronchodilators such as albuterol, levalbuterol (Xopenex), bitolterol (Tornalate), pirbuterol (Maxair), terbutaline (Brethine, Bricanyl), salmeterol (Serevent), isoetharine (Bronkometer), metaproterenol (Alupent, Metaprel), or isoproterenol (Isuprel Mistometer) within 12 weeks prior to enrollment.

Study & Design

Study Type: INTERVENTIONAL

Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Placebo Comparator	Placebo	Initially one capsule daily for one week, then one capsule BID per oral daily for the next 5 weeks. If the one capsule BID per oral is well tolerated, the dose will be increased to two capsules each morning/one capsule each evening for one week, followed by two capsules BID per oral for the remainder of the study.
Albuterol	Albuterol	Initially 4 mg daily for one week, then 4 mg BID per oral daily for the next 5 weeks. If the 4 mg BID per oral is well tolerated, the dose will be increased to 8 mg each morning/4 mg each evening for one week, followed by 8 mg BID per oral for the remainder of the study.

Primary Outcome Measures

Name	Time	Method
Number of Participants With Adverse Events.	52 weeks	All participants who experienced adverse events.

Secondary Outcome Measures

Name	Time	Method
Change in 6 Minute Walk Test	Baseline, Week 6, and Week 52	The distance covered over a time of 6 minutes is used as the outcome by which to compare changes in performance capacity. Assessed by physical therapist.
Change in Forced Vital Capacity From Pulmonary Function Tests at 30 Weeks and 52 Weeks.	Baseline, Week 30, and Week 52	FVC (forced vital capacity) is the amount of air which can be forcibly exhaled from the lungs after taking the deepest breath possible.