Prevalence of Pompe’s disease in respiratory clinics

  • Research type

    Research Study

  • Full title

    Prevalence of Pompe’s disease amongst patients with unexplained respiratory muscle weakness or respiratory failure



  • Contact name

    M Polkey

  • Contact email

  • Sponsor organisation

    Royal Brompton and Harefiled NHS Foundation Trust

  • Duration of Study in the UK

    1 years, 3 months, 31 days

  • Research summary

    Pompe’s disease is a very rare condition which causes weakness of the respiratory muscles and may therefore cause symptoms of breathlessness or even respiratory failure, requiring the use of a ventilator at night. Recently a treatment for this condition has become available as well as a simple diagnostic test. However, we believe it is possible that there are patients with this condition who are presently undiagnosed attending respiratory clinics.

    We would like to complete an observational study of patients with respiratory muscle weakness of an unknown cause, who are attending respiratory clinics at two London centres, to determine whether patients attending these services have undiagnosed Pompe’s disease.

    Participation in the study will involve taking measurements of respiratory muscle strength, lower limb strength and collecting blood samples to test for enzymes which relate to Pompe's disease. These measures will be completed during a routine clinic visit and it is anticipated that these measures can be completed in under an hour. Participation will also involve the study co-ordinator accessing medical notes to gain information about disease history, past medical management and any previous investigations into respiratory muscle strength or enzymes in the blood relating to muscle dysfunction.

    The study aims to collect information about the number of patients attending respiratory clinics with undiagnosed Pompe's disease and the characteristics of these patients so that other specialist services could use these criteria to identify patients who may benefit from investigations and treatment. If any participants are diagnosed with Pompe’s disease and could benefit from treatment medical staff would refer them for treatment at local UK centres.

  • REC name

    London - Queen Square Research Ethics Committee

  • REC reference


  • Date of REC Opinion

    18 Aug 2015

  • REC opinion

    Favourable Opinion

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