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Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months

Respiratorische Funktion unter Enzymersatztherapie über mehr als 48 Monate bei Patienten mit adultem M. Pompe

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Summary

Respiratory impairment is the most important prognostic factor in patients with adult-onset Pompe disease. The effect of long-term enzyme replacement therapy (ERT) on pulmonary function remains unclear.

Respiratory parameters (vital capacity (VCmax); forced expiratory volume (FEV1); peak expiratory flow (PEF); and blood gas analysis) were monitored every 6 months during a treatment period of 48–77 months of ERT in six patients with genetically and biochemically confirmed adult-onset Pompe disease. Postural drop of VCmax from sitting to supine position, maximal inspiratory muscle pressure (PImax), mouth occlusion pressure after 100 ms (P0.1), and peak cough flow (PCF) were measured over a period of 12 months. Mean change to baseline were + 8.8 % points for ΔVCmax, + 6.2 % points for ΔFEV1, and + 6.6 % points for ΔPEF after 48 months of ERT. In one patient, a decrease of respiratory parameters with later stabilization was observed under ERT until month 42, but noninvasive ventilation (NIV) had to be initiated due to nocturnal desaturation. In the final 12 months period, progressive diaphragm weakness was detected in 3/6 patients (median change in VC% drop + 8 %).

ERT seems to stabilize pulmonary function and may delay the requirement for ventilation in patients with late-onset Pompe disease.

Zusammenfassung

Die respiratorische Insuffizienz ist der wichtigste prognostische Faktor bei Patienten mit der adulten Form des M. Pompe. Der langfristige Erfolg einer Enzymersatztherapie auf die Atemmuskulatur ist noch nicht hinreichend belegt.

In unserer Studie wurden respiratorische Parameter (Vitalkapazität, VCmax; forcierte Einsekundenkapazität, FEV1; Peak flow, PEF) sowie die kapilläre Blutgasanalyse halbjährlich über einen Behandlungszeitraum von 48 bis 77 Monaten unter Enzymersatz bei sechs Patienten mit genetisch und biochemisch gesichertem late-onset M. Pompe erhoben. Außerdem untersuchten wir den Abfall der VCmax von aufrechter zu liegender Position, den maximalen Inspirationsdruck (PImax), den Mundverschlussdruck nach 100 ms (P0.1) und den Peak cough flow über 12 Monate. Nach 48 Monaten unter Enzymersatztherapie ergab sich dabei im Mittel eine Verbesserung um 8,8 % Punkte für ΔVCmax, + 6,2 % Punkte für ΔFEV1 und + 6,6 % Punkte für ΔPEF. Ein Patient zeigte nach initial rascher Verschlechterung der respiratorischen Parameter unter ERT eine Stabilisierung bis zum Monat 42 der Behandlung. Dennoch musste eine unterstützende Maskenbeatmung (NIV) aufgrund nächtlicher Sättigungsabfälle in der Polysomnographie initiiert werden. In den letzten 12 Monaten des Untersuchungszeitraums ließ sich eine wachsende Diaphragmaschwäche bei 3/6 Patienten nachweisen (Zunahme im Vergleich zum Ausgangswert im Median um 8 %).

Unsere Studie legt nahe, dass die Enzymersatztherapie in der Lage ist, die respiratorische Funktion bei erwachsenen Patienten mit M. Pompe zu stabilisieren und somit die Notwendigkeit einer Beatmung hinauszuzögern.

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Conflict of interest

Each author listed in this article has seen and approved the submission of this version of the article and takes full responsibility for this article. Drs. Schneider and Hanisch received reimbursement for attending a symposium. Dr. Hanisch and Prof. Zierz received fees for speaking and organizing education. None of the other authors listed in this article has any potential conflict of interest to declare.

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Authors and Affiliations

  1. Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst Grube-Str. 40, 06120, Halle (Saale), Germany

    Ilka Schneider,  Frank Hanisch,  Tobias Müller &  Stephan Zierz

  2. Pneumological Unit, Department of Internal Medicine I, Martin-Luther-University Halle-Wittenberg, Ernst Grube-Str. 40, 06120, Halle (Saale), Germany

    Bernd Schmidt

Authors
  1. Ilka Schneider
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  2. Frank Hanisch
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  3. Tobias Müller
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  4. Bernd Schmidt
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Correspondence to Ilka Schneider.

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Schneider, I., Hanisch, F., Müller, T. et al. Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months. Wien Med Wochenschr 163, 40–44 (2013). https://doi.org/10.1007/s10354-012-0153-5

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  • DOI: https://doi.org/10.1007/s10354-012-0153-5

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