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Prevalence of Pompe's Disease in Respiratory Clinics (PURF)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02527239
Recruitment Status : Unknown
Verified August 2015 by Royal Brompton & Harefield NHS Foundation Trust.
Recruitment status was:  Not yet recruiting
First Posted : August 18, 2015
Last Update Posted : August 18, 2015
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Royal Brompton & Harefield NHS Foundation Trust

Brief 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.

Condition or disease Intervention/treatment
Pompe's Disease Other: Prospective observational study

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 400 participants
Time Perspective: Prospective
Official Title: Prevalence of Pompe's Disease Amongst Patients With Unexplained Respiratory Muscle Weakness or Respiratory Failure
Study Start Date : September 2015
Estimated Primary Completion Date : September 2016
Estimated Study Completion Date : September 2016

Intervention Details:
  • Other: 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.

Primary Outcome Measures :
  1. The prevalence of undiagnosed adult onset Pompes disease. This will be assessed through dry blood spot testing measuring α-glucosidase (GAA) deficiency and the Activity Ratio +/Acarbose. [ Time Frame: 12 months ]
    dry blood spot testing

Secondary Outcome Measures :
  1. CK levels [ Time Frame: 12 months ]
    blood tests

  2. Respiratory muscle strength [ Time Frame: 12 months ]
    Using sniff nasal inspiratory pressure, spirometry in lying and sitting, maximal inspiratory and expiratory mouth pressure

  3. Respiratory failure [ Time Frame: 12 months ]
    Blood gases

  4. Muscle weakness [ Time Frame: 12 months ]
    performance on the short physical performance battery

  5. Disease history [ Time Frame: 12 months ]
    review of notes to establish duration of symptoms, time interval between presentation and referral to secondary care and any signs of respiratory failure or respiratory muscle weakness at presentation.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adults aged over 18 presenting to respiratory clinics with respiratory muscle weakness of an unknown cause.

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.

Exclusion Criteria:

respiratory muscle weakness confirmed to be due to another cause known to have Pompe's disease at time of referral

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02527239

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Contact: Michael Polkey 0207 352 8121 ext 8058

Sponsors and Collaborators
Royal Brompton & Harefield NHS Foundation Trust
Genzyme, a Sanofi Company

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Responsible Party: Royal Brompton & Harefield NHS Foundation Trust Identifier: NCT02527239     History of Changes
Other Study ID Numbers: 2015LF006B
First Posted: August 18, 2015    Key Record Dates
Last Update Posted: August 18, 2015
Last Verified: August 2015
Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors