Mucopolysaccharidosis
Conditions
Interventions
This is an open-label, randomized, controlled clinical trialconducted at the Reference Center for Inborn Errors of Metabolism (CREIM), which is part of the Genetics and Inborn Errors of Metabolism sec
s booklet. Emphasis was placed on safety guidelines, self-monitoring of clinical signs, and stopping exercises in case of discomfort or incidents. Patients and their families were previously instructe
Sponsors
Universidade Federal de São Paulo
Universidade Federal de São Paulo
Eligibility
Age
6 Years to No maximum
Inclusion criteria
Inclusion criteria: Individuals with a confirmed diagnosis of Mucopolysaccharidosis (any type) by enzyme assay and/or genotyping; of both sexes; over six years of age; whose guardians signed the informed consent form; under follow-up at the Reference Center for Inborn Errors of Metabolism; and without participation in physical rehabilitation or regular aerobic exercise (greater than 150 minutes/week) in the last six months
Exclusion criteria
Exclusion criteria: Patients unable to walk; with tracheostomies and/or dependent on invasive mechanical ventilation; hospitalized for acute respiratory infection less than 30 days prior to assessment; with severe heart disease; with cognitive impairment, unable to understand verbal instructions
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| A 10% improvement in functional capacity, assessed by the incremental walking test, is expected in individuals with mucopolysaccharidosis. Data were collected before and after a 16-week physical rehabilitation program. 16-week physical rehabilitation program | — |
Secondary
| Measure | Time frame |
|---|---|
| An improvement in quality of life is expected, as assessed using the Quality of Life Assessment Questionnaire – Short Form (36 items) | — |
Countries
Brazil
Contacts
Public ContactBianca Dias
Universidade Federal de São Paulo
Outcome results
None listed