Actively Recruiting

All Genders
ID05284006

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

Led by Nemours Children's Clinic · Updated on 2026-05-13

60

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

Sponsors

N

Nemours Children's Clinic

Lead Sponsor

E

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

Collaborating Sponsor

AI-Summary

What this Trial Is About

Morquio A disease, also known as Mucopolysaccharidosis IVA (MPS IVA), is a rare genetic disorder causing serious skeletal problems and other health issues like joint laxity, tracheal obstruction, and reduced lung capacity. Researchers are working to better understand how the disease progresses and affects patients of all ages. This study aims to develop non-invasive ways to assess these problems and define clear clinical goals for future treatments. The study involves detailed non-invasive assessments including imaging tests like X-rays, MRI, CT angiography, bone density scans, and gait analysis. It also evaluates lung function, joint mobility, hearing, quality of life, and biochemical markers. These tests will be done at different times over several years to track changes and disease progression without burdening patients. Participants will undergo multiple evaluations at baseline and follow-ups at 18, 36, and 48 months. These include physical measurements, questionnaires, pulmonary tests, imaging scans, and hearing and gait analysis. The study carefully tracks many health aspects to better understand the disease's impact and support the design of future clinical trials and therapies for Morquio A patients.

CONDITIONS

Brief Title

Non-invasive Functional Assessment and Pathogenesis of Morquio A

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients affected by MPS IVA
  • Diagnosis confirmed by deficient enzyme activity of less than 5% of normal in plasma or leukocytes
Not Eligible

You will not qualify if you...

History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - 48 months

Participants undergo multiple non-invasive assessments to evaluate various functions including pulmonary, skeletal, gait, joint mobility, hearing, and biochemical analyses.

Visits at baseline, 18 months, 36 months, and 48 months

Trial Site Locations

Total: 1 location

1

Nemours Children's Health, Delaware Valley

Wilmington, Delaware, United States, 19803

Actively Recruiting

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Research Team

S

Shunji Tomatsu, MD PhD

G

Greg Stets

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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Published Research Related To This Trial

Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale.

Michael P Whyte, Kenji P Fujita, Scott Moseley...

https://pubmed.ncbi.nlm.nih.gov/29297597

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry.

Shunji Tomatsu, Adriana M Montaño, Toshihiro Oguma...

https://pubmed.ncbi.nlm.nih.gov/20107903