Pompe's Disease Clinical Trial
Official title:
Prevalence of Pompe's Disease Amongst Patients With Unexplained Respiratory Muscle Weakness or Respiratory Failure
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. 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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Time Perspective: Prospective
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Active, not recruiting |
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|
Phase 4 | |
| Completed |
NCT00830583 -
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|
N/A | |
| Completed |
NCT02903654 -
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|
N/A | |
| Completed |
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|
N/A |