Prevalence of Pompe's Disease in Respiratory Clinics (PURF)
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|ClinicalTrials.gov 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
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|
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.
|Study Type :||Observational|
|Estimated Enrollment :||400 participants|
|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|
- 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.
- 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
- CK levels [ Time Frame: 12 months ]blood tests
- Respiratory muscle strength [ Time Frame: 12 months ]Using sniff nasal inspiratory pressure, spirometry in lying and sitting, maximal inspiratory and expiratory mouth pressure
- Respiratory failure [ Time Frame: 12 months ]Blood gases
- Muscle weakness [ Time Frame: 12 months ]performance on the short physical performance battery
- 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.
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 ClinicalTrials.gov identifier (NCT number): NCT02527239
|Contact: Michael Polkey||0207 352 8121 ext 8058|