Status:
COMPLETED
Respiratory Cathepsins, Proteases Inhibitors and Glycosaminoglycans (GAG) in Mucopolysaccharidosis
Lead Sponsor:
University Hospital, Tours
Conditions:
Mucopolysaccharidoses
Eligibility:
All Genders
Up to 17 years
Brief 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 ...
Detailed Description
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 ...
Eligibility Criteria
Inclusion
- Patients with MPS:
- Patient with a confirmed diagnosis (enzymatic activity, and/or genotyping) of MPS, all types (I, II, III, IV, VI, VII, IX)
- Aged from 0 to 17 years old
- Non inclusion Criteria:
- Chronic respiratory disease independent of MPS disease (potential interferences with our analyzes)
- Inability to obtain pulmonary samples
- Refusal of the patient, parent or legal representative to participate in this study
Exclusion
- Impossibility to use pulmonary samples (insufficient volume, conservation problem, etc.)
- Non-MPS patients:
- Inclusion Criteria:
- Patient with no respiratory disease
- Aged from 0 to 17 years old
- Non inclusion Criteria:
- Emergency medical situation
- Inability to obtain pulmonary expectoration
- Refusal of the patient, parent or legal representative to participate in this study
Key Trial Info
Start Date :
November 12 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
June 26 2020
Estimated Enrollment :
27 Patients enrolled
Trial Details
Trial ID
NCT04112602
Start Date
November 12 2019
End Date
June 26 2020
Last Update
January 4 2022
Active Locations (7)
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1
Metabolic Disease Competence Centre - Medical Genetics Department - University Hospital, Angers
Angers, France
2
Metabolic Disease Reference Centre - Medical Genetics Department - University Hospital, Bordeaux
Bordeaux, France
3
Metabolic Disease Competence Centre - Medical Genetics Department - University Hospital, Brest
Brest, France
4
Metabolic Disease Competence Centre - Pediatrics Department - University Hospital, Rennes
Rennes, France