Prevalence of Pompe's Disease in Respiratory Clinics

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

400 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-09-30

Study Completion Date

2016-09-30

Brief Summary

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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.

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Detailed Description

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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. Participation will also involve the study coordinator accessing medical notes to gain information about disease history.

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.

Conditions

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Pompe's Disease

Study Design

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Study Time Perspective

PROSPECTIVE

Interventions

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Prospective observational study

Prospective observational study collecting data during a clinic vist including measurement of respiratory muscle strength, respiratory failure, lung function, physical performance and blood testing for enzymes related to Pompe's disease and muscle function.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

Patients presenting to home mechanical ventilation or other respiratory clinics:

who are over 18 years old with unexplained respiratory muscle weakness with breathlessness and/or type II respiratory failure which may be treated by a ventilator which is: unexplained by a known pulmonary disease, radiological abnormality or distortion of body hiatus (e.g scoliosis or massive obesity defined as BMI \> 50 kg/m2), associated with a restrictive ventilatory defect or associated with unexplained muscle weakness.