Non-invasive Functional Assessment and Pathogenesis of Morquio A

Description

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.

Conditions

Mucopolysaccharidosis IV Type A, Morquio A Syndrome, MPS IVA

Study Overview

Study Details

Study overview

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.

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

Non-invasive Functional Assessment and Pathogenesis of Morquio A

Condition
Mucopolysaccharidosis IV Type A
Intervention / Treatment

-

Contacts and Locations

Wilmington

Nemours Children's Health, Delaware Valley, Wilmington, Delaware, United States, 19803

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * No

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Nemours Children's Clinic,

Shunji Tomatsu, MD PhD, PRINCIPAL_INVESTIGATOR, Nemours Children's Care

Study Record Dates

2026-04-30