Recruiting

Observational Study

Sponsor:

Nemours Children's Clinic

Code:

NCT05284006

Conditions

Mucopolysaccharidosis IV Type A

Morquio A Syndrome

MPS IVA

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc.

Study Details

Brief 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.

Conditions

Mucopolysaccharidosis IV Type A

Morquio A Syndrome

MPS IVA

Study ID

NCT05284006

Start date

May 1, 2021

Status verified date

May, 2026

Completion date

Apr 30, 2027

Anticipated

Primary completion date

Apr 30, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

60 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Interventions

Imaging, gait analysis, growth, joint test, hearing test, questionnaire, etc.

This study includes 15 major assessments: clinical assessment procedures; anthropometric measurements; activity of daily living and quality-of-life questionnaires; gait kinematics and kinetics analysis; pulmonary function tests (PFT); skeletal radiographs and dual-energy x-ray absorptiometry (DXA); MRI in cervical spine, temporal bones, and hip; computed tomography angiography (CTA) for tracheal obstruction; CT for temporal bones; anesthetic encounters; joint mobility; hearing function; biochemical analyses; and pathological analyses.

Primary outcome measure

  • Change of Total body length [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Body mass index (BMI) [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Height velocity [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of QOL questionnaire [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Joint Mobility [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Skeletal survey by x-rays [ Time Frame: baseline, 36 months ]
  • Change of MRI in cervical spine (distance) [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of CT angiography (CTA) (area) [ Time Frame: baseline, 36 months ]
  • Change of Anesthetic encounters [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Pulmonary Function Tests (CO2 %) [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Pulmonary Function Tests (Resistance) [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Pulmonary Function Tests (percent Rib Cage) [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Z-score of Bone mineral density (BMD) [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Hearing function (db SPL) [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Gait analysis (Nm/kg) [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Biochemical biomarkers (KS) [ Time Frame: baseline, 18 months, 36 months, 48 months ]
  • Change of Biochemical biomarkers (C6S) [ Time Frame: baseline, 18 months, 36 months, 48 months ]

Central Contacts and Locations

Central contacts

Shunji Tomatsu, MD PhD

3022987336stomatsu@nemours.org

Greg Stets

302-298-6504gstets@nemours.org

Locations

Nemours Children's Health, Delaware Valley

Recruiting

Wilmington, Delaware, United States, 19803

Contacts

Greg Stets

302-298-6504gstets@nemours.org

More Information

Sponsor

Nemours Children's Clinic

Last update posted

May 13, 2026

Last verified

May, 2026

Keywords

  • skeletal dysplasia
  • GALNS
  • keratan sulfate
  • tracheal narrowing
  • short stature

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Nemours Children's Clinic on 2026-05-13.