Non-invasive assessment of Morquio A syndrome
Non-invasive Functional Assessment and Pathogenesis of Morquio A (NIFAMA)
Nemours Children's Clinic · NCT05284006
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 |
|---|---|
| Enrollment | 60 (estimated) |
| Sex | All |
| Sponsor | Nemours Children's Clinic (other) |
| Locations | 1 site (Wilmington, Delaware) |
| Trial ID | NCT05284006 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with Mucopolysaccharidosis IVA, confirmed by deficient enzyme activity.
Not a fit: Patients without a confirmed diagnosis of MPS IVA will not benefit from this study.
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 performed: While there have been studies on MPS IVA, this non-invasive approach to assessing disease progression is relatively novel.
Eligibility criteria
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 this trial is running
Wilmington, Delaware
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Mucopolysaccharidosis IV Type A, Morquio A Syndrome, MPS IVA, skeletal dysplasia, GALNS, keratan sulfate, tracheal narrowing, short stature