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Publication ,  Journal Article
Jones, HN; Kuchibhatla, M; Crisp, KD; Hobson Webb, LD; Case, L; Batten, MT; Marcus, JA; Kravitz, RM; Kishnani, PS
Published in: Mol Genet Metab
August 2019

INTRODUCTION:: Morbidity and mortality in adults with late-onset Pompe disease (LOPD) results primarily from persistent progressive respiratory muscle weakness despite treatment with enzyme replacement therapy (ERT). To address this need, we have developed a 12-week respiratory muscle training (RMT) program that provides calibrated, individualized, and progressive pressure-threshold resistance against inspiration and expiration. Our previous results suggest that our RMT regimen is safe, well-tolerated, and results in large increases in respiratory muscle strength. We now conduct an exploratory double-blind, randomized control trial (RCT) to determine: 1) utility and feasibility of sham-RMT as a control condition, 2) the clinically meaningful outcome measures for inclusion in a future efficacy trial. This manuscript provides comprehensive information regarding the design and methods used in our trial and will aid in the reporting and interpretation of our future findings. METHODS:: Twenty-eight adults with LOPD will be randomized (1:1) in blocks of 4 to RMT (treatment) or sham-RMT (control). Assessments will be conducted at pretest, posttest, 3-months detraining, and 6-months detraining. The primary outcome is maximum inspiratory pressure (MIP). Secondary outcomes include maximum expiratory pressure (MEP), 6-minute walk test (6MWT), Gait, Stairs, Gowers, and Chair test (GSGC), peak cough flow (PCF), and patient-reported life activity/social participation (Rasch-built Pompe-specific Activity scale [R-Pact]). Exploratory outcomes include quantitative measures from polysomnography; patient reported measures of fatigue, daytime sleepiness, and sleep quality; and ultrasound measures of diaphragm thickness. This research will use a novel tool to provide automated data collection and user feedback, and improve control over dose. ETHICS AND DISSEMINATION:: The results of this clinical trial will be promptly analyzed and submitted for publication. Results will also be made available on clinicaltrials.gov. CLINICALTRIALS.GOV:: ,

Duke Scholars

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

August 2019

Volume

127

Issue

4

Start / End Page

346 / 354

Location

United States

Related Subject Headings

  • Young Adult
  • Respiratory Muscles
  • Respiratory Function Tests
  • Randomized Controlled Trials as Topic
  • Quality of Life
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Double-Blind Method
  • Breathing Exercises
 

Citation

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Jones, H. N., Kuchibhatla, M., Crisp, K. D., Hobson Webb, L. D., Case, L., Batten, M. T., … Kishnani, P. S. (2019). [Not Available]. Mol Genet Metab, 127(4), 346–354. https://doi.org/10.1016/j.ymgme.2019.05.001
Jones, Harrison N., Maragatha Kuchibhatla, Kelly D. Crisp, Lisa D. Hobson Webb, Laura Case, Milisa T. Batten, Jill A. Marcus, Richard M. Kravitz, and Priya S. Kishnani. “[Not Available].Mol Genet Metab 127, no. 4 (August 2019): 346–54. https://doi.org/10.1016/j.ymgme.2019.05.001.
Jones HN, Kuchibhatla M, Crisp KD, Hobson Webb LD, Case L, Batten MT, et al. [Not Available]. Mol Genet Metab. 2019 Aug;127(4):346–54.
Jones, Harrison N., et al. “[Not Available].Mol Genet Metab, vol. 127, no. 4, Aug. 2019, pp. 346–54. Pubmed, doi:10.1016/j.ymgme.2019.05.001.
Jones HN, Kuchibhatla M, Crisp KD, Hobson Webb LD, Case L, Batten MT, Marcus JA, Kravitz RM, Kishnani PS. [Not Available]. Mol Genet Metab. 2019 Aug;127(4):346–354.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

August 2019

Volume

127

Issue

4

Start / End Page

346 / 354

Location

United States

Related Subject Headings

  • Young Adult
  • Respiratory Muscles
  • Respiratory Function Tests
  • Randomized Controlled Trials as Topic
  • Quality of Life
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Double-Blind Method
  • Breathing Exercises