Non-invasive Functional Assessment and Pathogenesis of Morquio A

Part of paid clinical trials in Wilmington, Delaware.

Sponsor
Nemours Children's Clinic
Study ID
NCT05284006
Status
Recruiting
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Conditions

  • MPS IVA
  • Morquio A Syndrome
  • Mucopolysaccharidosis IV Type A

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc. — DIAGNOSTIC_TEST
    This 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.

Study Details

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.

Key Dates

Start date
May 1, 2021
Status verified
May 2026
Primary completion
Apr 30, 2027
Completion
Apr 30, 2027

Study Design

Enrollment
60 participants (estimated)

Arms

  • Arm: Mucopolysaccharidosis IVA
    Patients affected by MPS IVA. The diagnosis of MPS will be confirmed by deficient enzyme activity of \< 5% of normal activity level as measured in plasma, leukocytes, or fibroblasts.

Primary Outcome Measure

Change of Total body length [ Time Frame: baseline, 18 months, 36 months, 48 months ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Nemours Children's Health, Delaware ValleyWilmingtonDelaware19803
Greg Stets
[email protected]
302-298-6504

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Nemours Children's Health, Delaware Valley· Wilmington, DE

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