MedTrace Logo

Respiratory Cathepsins, Proteases Inhibitors and Glycosaminoglycans (GAG) in Mucopolysaccharidosis

NCT04112602 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 27

Last updated 2022-01-04

No results posted yet for this study

Summary

Mucopolysaccharidosis (MPS) are a group of inherited, metabolic diseases caused by a deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAGs). Loss of their activity results in cellular accumulation of GAGs fragments leading to progressive multi-system manifestations, with respiratory impairment. The cellular and molecular mechanisms responsible for the pulmonary impairment remain largely unknown. Specific GAGs, such as those accumulating in MPS, may act as potent inhibitors of some respiratory enzymes, like lysosomal cathepsins, depending on the nature of GAGs and their concentration. It is well established that deregulation of cathepsins levels plays a major role in the pathophysiology of some chronic respiratory diseases, such as cystic fibrosis. The role of cathepsins and their inhibitors in respiratory samples of MPS patients has never been studied. This study will focus on the status/activity of these proteases and their endogenous inhibitors in the sputum or tracheal aspiration of patients with MPS. Our main hypothesis is that high levels of GAGs in MPS patients impair the physiological activity of cathepsins and their inhibitors.

Conditions

  • Mucopolysaccharidoses

Interventions

OTHER

Sputum

Sputum will be collected after a respiratory physiotherapy session, scheduled as part of routine care.

OTHER

Tracheal aspiration

Tracheal aspirations will be collected in intubated patients (intubation for surgery under general anesthesia).

Sponsors & Collaborators

  • University Hospital, Tours

    lead OTHER

Principal Investigators

  • François Labarthe, MD-PhD · University Hospital, Tours

Eligibility

Max Age
17 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-11-12
Primary Completion
2020-06-26
Completion
2020-06-26

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04112602 on ClinicalTrials.gov