Non-invasive Functional Assessment and Pathogenesis of Morquio A
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorNemours Children's Clinic
About this trial
Morquio A disease is a devastating systemic skeletal disease in which detailed progression and pathogenesis remain unknown. The proposed project aims to establish a non-invasive objective assessment that can be applicable to all ages of patients to better understand the progress of their disease and the most serious clinical problems (cervical instability and stenosis, tracheal obstruction, hyperlaxity of joints, hip dysplasia, and small lung capacity). The outcome of this project will lead to a more precise understanding of the skeletal/pulmonary compromise and defining clinical endpoints in this disease for future clinical trials of current or developing therapies.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Patients affected by MPS IVA. The diagnosis of MPS IVA is confirmed by deficient enzyme activity of < 5% of normal activity level as measured in plasma or leukocytes.
Disqualifiers
No
Trial population
The studies proposed here will involve a minimum of 60 subjects who have the biochemical defect of GALNS. There is no limitation in the age range. All patients will be included, whether ambulatory or not, with presence or absence of planned surgical operation, and whether received ERT. The study population will consist of male and female patients with the diagnosis of MPS IVA, also known as Morquio A disease. Before any study procedures, all potential subjects and their parents/legal guardians will be informed about the purpose and conduct of the study. They will be prospectively followed every 18 months at Nemours Children's Health, Delaware Valley.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc.
Diagnostic testThis study includes 15 major assessments: clinical assessment procedures; anthropometric measurements; activity of daily living and quality-of-life questionnaires; gait kinematics and kinetics analysis; pulmonary function tests (PFT); skeletal radiographs and dual-energy x-ray absorptiometry (DXA); MRI in cervical spine, temporal bones, and hip; computed tomography angiography (CTA) for tracheal obstruction; CT for temporal bones; anesthetic encounters; joint mobility; hearing function; biochemical analyses; and pathological analyses.
Treatment groups
60 Participants
are divided into 1 treatment groupGroup A: Mucopolysaccharidosis IVA1 intervention
Trial outcomes
Primary outcomes
1
Change of Total body length
cm: The patient lies on a flat surface with knees flattened to extend the legs fully. Standing height will also be measured
Time frame
baseline, 18 months, 36 months, 48 months2
Change of Body mass index (BMI)
BMI: BMI is a measure of body fat based on height and weight. BMI is a person's weight in kilograms divided by the square of height in meters.
Time frame
baseline, 18 months, 36 months, 48 months3
Change of Height velocity
cm/year: calculating height velocity is a simple matter of measuring a height at two points in time and then dividing the change by the amount of time (year).
Time frame
baseline, 18 months, 36 months, 48 months4
Change of QOL questionnaire
Score: The questionnaire comprises three domains: "Movement," "Movement with cognition," and "Cognition." Each domain has 20 scores. Total score is 60. Higher scores means a better ADL.
Time frame
baseline, 18 months, 36 months, 48 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Nemours Children's Clinic
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborator
Source ClinicalTrials.gov