Prevalence of Pompe's Disease in Respiratory Clinics

Pompe's Disease Clinical Trial

— PURF  

Official title:

Prevalence of Pompe's Disease Amongst Patients With Unexplained Respiratory Muscle Weakness or Respiratory Failure

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT02527239
• Other study ID #: 2015LF006B
• Status: Not yet recruiting
• Phase: N/A
• First received: August 17, 2015
• Last updated: August 17, 2015
• Start date: September 2015
• Est. completion date: September 2016

Study information

• Verified date: August 2015
• Source: Royal Brompton & Harefield NHS Foundation Trust
• Contact: Michael Polkey
• Phone: 0207 352 8121
• Is FDA regulated: No
• Health authority: United Kingdom: Research Ethics Committee
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 400
• Est. completion date: September 2016
• Est. primary completion date: September 2016
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

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

Study Design

Time Perspective: Prospective

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe's Disease

Intervention

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.

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
Royal Brompton & Harefield NHS Foundation Trust	Genzyme, a Sanofi Company

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The prevalence of undiagnosed adult onset Pompes disease. This will be assessed through dry blood spot testing measuring a-glucosidase (GAA) deficiency and the Activity Ratio +/Acarbose.	dry blood spot testing	12 months	No
Secondary	CK levels	blood tests	12 months	No
Secondary	Respiratory muscle strength	Using sniff nasal inspiratory pressure, spirometry in lying and sitting, maximal inspiratory and expiratory mouth pressure	12 months	No
Secondary	Respiratory failure	Blood gases	12 months	No
Secondary	Muscle weakness	performance on the short physical performance battery	12 months	No
Secondary	Disease history	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.	12 months	No