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Non-invasive Functional Assessment and Pathogenesis of Morquio A
Non-invasive Functional Assessment and Pathogenesis of Morquio A (NIFAMA)
Who can join
All ages · All sexes
Full eligibility criteria
Inclusion Criteria: * 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. Exclusion Criteria: * No
About the study
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.
What is being tested
- Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc. (diagnostic test)
Sponsor: Nemours Children's Clinic · Participants: 60 · Started: May 1, 2021
Contact the study team
- Shunji Tomatsu, MD PhD · Phone: 3022987336
- Greg Stets · Phone: 302-298-6504
Official record on ClinicalTrials.gov — NCT05284006
Locations in the U.S.
| Delaware | Nemours Children's Health, Delaware Valley, Wilmington |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.