Diaphragm pacing as a rehabilitative tool for patients with pompe disease who are ventilator-dependent: Case series

Physical Therapy

Volumn 96, Issue 5, 2016, Pages 696-703

  Smith, Barbara K ^a   Fuller, David D ^a   Martin, A Daniel ^a   Lottenberg, Lawrence ^b   Islam, Saleem ^a   Lawson, Lee Ann ^a   Onders, Raymond P ^c   Byrne, Barry J ^a  

^a UNIVERSITY OF FLORIDA   (United States)

^b FLORIDA ATLANTIC UNIVERSITY   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BREATHING; CASE REPORT; COMPLICATION; DIAPHRAGM; ELECTRODE IMPLANT; ELECTROMYOGRAPHY; ELECTROTHERAPY; GLYCOGEN STORAGE DISEASE TYPE II; HUMAN; LUNG VENTILATION; MALE; MIDDLE AGED; PATHOPHYSIOLOGY; POSITIVE END EXPIRATORY PRESSURE; PRESCHOOL CHILD; RESPIRATORY INSUFFICIENCY; VENTILATOR WEANING;

CHILD, PRESCHOOL; DIAPHRAGM; ELECTRIC STIMULATION THERAPY; ELECTRODES, IMPLANTED; ELECTROMYOGRAPHY; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MALE; MIDDLE AGED; POSITIVE-PRESSURE RESPIRATION; PULMONARY VENTILATION; RESPIRATION; RESPIRATORY INSUFFICIENCY; VENTILATOR WEANING;

EID: 84964859602     PISSN: 00319023     EISSN: 15386724     Source Type: Journal    
DOI: 10.2522/ptj.20150122     Document Type: Article

References (28)

1. Raben N, Plotz P, Byrne BJ. Acid alphaglucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med. 2002; 2:145-166.
2. Byrne BJ, Kishnani PS, Case LE, et al. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011;103:1-11.
3. Muller-Felber W, Horvath R, Gempel K, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007; 17:698-706.
4. American Association of Neuromuscular & Electrodiagnostic Medicine. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40:149-160.
5. Fuller DD, ElMallah MK, Smith BK, et al. The respiratory neuromuscular system in Pompe disease. Respir Physiol Neurobiol. 2013;189:241-249.
6. van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med. 2010;362:1396-1406.
7. Raben N, Danon M, Gilbert AL, et al. Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab. 2003;80:159-169.
8. Nicolino M, Byrne B, Wraith JE, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009;11:210-219. [9] van der Ploeg AT, Barohn R, Carlson L, et al. Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab. 2012;107:456-461.
9. Byrne BJ, Falk DJ, Pacak CA, et al. Pompe disease gene therapy. Hum Mol Genet. 2011;20:R61-R68.
10. DeRuisseau LR, Fuller DD, Qiu K, et al. Neural deficits contribute to respiratory insufficiency in Pompe disease. Proc Natl Acad Sci USA. 2009;106:9419-9424.
11. Hobson-Webb LD, Proia AD, Thurberg BL, et al. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab. 2012;106:462-469.
12. Onders RP, Elmo M, Khansarinia S, et al. Complete worldwide operative experience in laparoscopic diaphragm pacing: results and differences in spinal cord injured patients and amyotrophic lateral sclerosis patients. Surg Endosc. 2009;23: 1433-1440.
13. DiMarco AF. Restoration of respiratory muscle function following spinal cord injury: review of electrical and magnetic stimulation techniques. Respir Physiol Neurobiol. 2005;147:273-287.
14. Posluszny JA Jr, Onders R, Kerwin AJ, et al. Multicenter review of diaphragm pacing in spinal cord injury: successful not only in weaning from ventilators but also in bridging to independent respiration. J Trauma Acute Care Surg. 2014;76:303-309, discussion 309-310.
15. ElMallah MK, Pagliardini S, Turner SM, et al. Ampakines stimulate respiratory motor output and ventilation in a murine model of Pompe disease. Am J Respir Cell Mol Biol. 2015;53:326-335.
16. American Thoracic Society/European Respiratory Society. ATS/ERS statement on respiratory muscle testing. Am J Respir Crit Care Med. 2002;166:518-624.
17. Martin AD, Smith BK, Davenport P, et al. Inspiratory muscle strength training improves weaning outcome in failure to wean patients: a randomized trial. Crit Care. 2011;15:R84.
18. Onders RP, Dimarco AF, Ignagni AR, et al. Mapping the phrenic nerve motor point: the key to a successful laparoscopic diaphragm pacing system in the first human series. Surgery. 2004;136:819-826.
19. Powers SK, Kavazis AN, Levine S. Prolonged mechanical ventilation alters diaphragmatic structure and function. Crit Care Med. 2009;37(10 suppl):S347-S353.
20. Case LE, Beckemeyer AA, Kishnani PS. Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations. Am J Med Genet C Semin Med Genet. 2012;160:69-79.
21. Feldman JL, Mitchell GS, Nattie EE. Breathing: rhythmicity, plasticity, chemosensitivity. Annu Rev Neurosci. 2003;26:239-266.
22. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid =-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99-109.
23. Lee KZ, Qiu K, Sandhu MS, et al. Hypoglossal neuropathology and respiratory activity in Pompe mice. Front Physiol. 2011;2:31.
24. Onders RP, Ponsky TA, Elmo M, et al. First reported experience with intramuscular diaphragm pacing in replacing positive pressure mechanical ventilators in children. J Pediatr Surg. 2011;46:72-76.
25. Colombo D, Cammarota G, Bergamaschi V, et al. Physiologic response to varying levels of pressure support and neurally adjusted ventilatory assist in patients with acute respiratory failure. Intensive Care Med. 2008;34:2010-2018.
26. Radell PJ, Remahl S, Nichols DG, Eriksson LI. Effects of prolonged mechanical ventilation and inactivity on piglet diaphragm function. Intensive Care Med. 2002;28: 358-364.
27. Jones HN, Crisp KD, Robey RR, et al. Respiratory muscle training (RMT) in lateonset Pompe disease (LOPD): effects of training and detraining. Mol Genet Metab. 2016;117:120-128.
28. Smith BK, Collins S, Conlon T, et al. Phase I/II trial of adeno-associated virusmediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes. Hum Gene Ther. 2013;24:630-640.