Non-invasive Functional Assessment and Pathogenesis of Morquio A (NIFAMA)

Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• 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.

Locations
United States
Delaware
Nemours Children's Health, Delaware Valley
RECRUITING
Wilmington
Contact Information
Primary
Shunji Tomatsu, MD PhD
stomatsu@nemours.org
3022987336
Backup
Greg Stets
gstets@nemours.org
302-298-6504
Time Frame
Start Date: 2021-05-01
Estimated Completion Date: 2026-04-30
Participants
Target number of participants: 60
Treatments
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.
Sponsors
Leads: Nemours Children's Clinic
Collaborators: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

This content was sourced from clinicaltrials.gov