Prevalence of Pompe's Disease in Respiratory Clinics

NCT02527239 | Unknown

• 1 other identifier: 2015LF006B
• Study Type: observational
• Target: 400
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Pompe's Disease

Outcome Measures

Primary Outcomes (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.

  dry blood spot testing

  12 months

Secondary Outcomes (5)

• CK levels

  12 months

• Respiratory muscle strength

  12 months

• Respiratory failure

  12 months

• Muscle weakness

  12 months

• Disease history

  12 months

Interventions

Prospective observational study OTHER

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.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults aged over 18 presenting to respiratory clinics with respiratory muscle weakness of an unknown cause.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Royal Brompton & Harefield NHS Foundation Trust: lead
• Genzyme, a Sanofi Company: collaborator

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Michael Polkey

CONTACT

0207 352 8121

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 17, 2015
• First Posted: August 18, 2015
• Study Start: September 1, 2015
• Primary Completion: September 1, 2016
• Study Completion: September 1, 2016
• Last Updated: August 18, 2015

Record last verified: 2015-08