Non-invasive assessment of Morquio A syndrome
Official title: Non-invasive Functional Assessment and Pathogenesis of Morquio A (NIFAMA)
Run by Nemours Children's Clinic · NCT05284006 · Data updated 2026-11-12
This study is trying to find a simple way to check how Morquio A syndrome affects patients' bones and overall health, so we can better understand the disease and help improve treatments.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 60 (estimated) |
| Sponsor | Nemours Children's Clinic Academic / other |
| Locations | 1 site (Wilmington, Delaware) |
| Status | Recruiting |
| Started | May 1, 2021 |
| Main results expected | April 30, 2027 |
| Study ends | April 30, 2027 |
| Registry record updated | May 13, 2026 |
| Trial ID | NCT05284006 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals diagnosed with Mucopolysaccharidosis IVA, confirmed by deficient enzyme activity.
✕Probably not a fit
Patients without a confirmed diagnosis of MPS IVA will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This project aims to establish a non-invasive objective assessment for Morquio A syndrome, a rare genetic disorder that leads to severe skeletal dysplasia. The study will evaluate various clinical parameters, including imaging, gait analysis, and joint tests, to better understand the disease's progression and its impact on patients' health. By collecting data from patients of all ages, the study seeks to identify critical clinical endpoints that can inform future therapeutic trials. The findings will enhance the understanding of skeletal and pulmonary complications associated with the disease.
Why it matters
Potential benefit: If successful, this study could lead to improved monitoring and management strategies for patients with Morquio A syndrome.
How similar studies have gone: While there have been studies on MPS IVA, this non-invasive approach to assessing disease progression is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
-
Nemours Children's Health, Delaware Valley
Wilmington, Delaware, United States Recruiting
Study contacts
- Principal investigator: Shunji Tomatsu, MD PhD — Nemours Children's Care
- Study coordinator: Shunji Tomatsu, MD PhD
- Email: stomatsu@nemours.org
- Phone: 3022987336
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.