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Non-invasive Functional Assessment and Pathogenesis of Morquio A

NCT05284006 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 60

Last updated 2026-05-13

No results posted yet for this study

Summary

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.

Conditions

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

Interventions

DIAGNOSTIC_TEST

Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc.

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.

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    collaborator NIH

  • Nemours Children's Clinic

    lead OTHER

Principal Investigators

  • Shunji Tomatsu, MD PhD · Nemours Children's Care

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-05-01
Primary Completion
2027-04-30
Completion
2027-04-30

Countries

  • United States

Study Locations

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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 NCT05284006 on ClinicalTrials.gov