Mucopolysaccharidosis VII Disease Monitoring Program

Mucopolysaccharidosis VII Disease Monitoring Program (MPS VII DMP)

The objectives of this study are to characterize MPS VII disease presentation and progression and assess long-term effectiveness and safety, including hypersensitivity reactions and immunogenicity of vestronidase alfa.

Study Overview

• Status: Recruiting
• Conditions: Sly Syndrome; Mucopolysaccharidosis VII; MPS VII; MPS 7
• Intervention / Treatment: Other: No Intervention

Detailed Description

The Mucopolysaccharidosis VII Disease Monitoring Program (MPS VII DMP) is a global, prospective, multicenter, longitudinal protocol designed to characterize MPS VII disease presentation and progression, assess long-term effectiveness and safety of vestronidase alfa, including hypersensitivity reactions and immunogenicity , as well as prospectively investigate longitudinal change across biomarker(s), clinical assessments, and patient/ caregiver-reported outcome measures in a representative population. The aim of this DMP is to collect data on patients with MPS VII to provide a comprehensive dataset on the clinical presentation, heterogeneity, and disease progression, and meaningful standardized ICH GCP-quality data collected in-clinic across multiple sites globally. The DMP is not a randomized study and both treated and untreated patients will be enrolled.

• Study Type: Observational
• Enrollment (Estimated): 50

Contacts and Locations

• Study Contact: Name: Patients Contact: Trial Recruitment; Phone Number: 1-888-756-8657; Email: trialrecruitment@ultragenyx.com
• Study Contact Backup: Name: HCPs Contact: Medical Information; Phone Number: 1-888-756-8657; Email: medinfo@ultragenyx.com

Study Locations

• Argentina
  • Buenos Aires, Argentina, C1425FNG
    • Recruiting
    • Laboratorio de Neuroquimica Dr. N.A. Chamoles S.R.L.
• Brazil
  • Rio Grande do Sul
    • Porto Alegre, Rio Grande do Sul, Brazil, 90035-003
      • Recruiting
      • Hospital de Clinicas de Porto Alegre
• France
  • Provence-Alpes-Côte d'Azur Region
    • Marseille, Provence-Alpes-Côte d'Azur Region, France, 13005
      • Recruiting
      • Centre Hospitalier Universitaire La Timone
• Germany
  • Mainz, Germany, 55131
    • Recruiting
    • Universitätsmedizin der Johannes Gutenberg-Universität Mainz
• Netherlands
  • South Holland
    • Rotterdam, South Holland, Netherlands, 3015 CN
      • Terminated
      • Erasmus University Medical Center Rotterdam
• Portugal
  • Porto, Portugal, 4050-651
    • Recruiting
    • Centro Hospitalar do Porto
• Spain
  • Seville, Spain, 41013
    • Recruiting
    • Hospital Universitario Virgen del Rocío Pabellón Infantil
• United States
  • California
    • Orange, California, United States, 92868
      • Recruiting
      • Children's Hospital of Orange County
  • District of Columbia
    • Washington D.C., District of Columbia, United States, 20010
      • Recruiting
      • Children's National Health System
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Recruiting
      • Ann & Robert H. Lurie Children's Hospital of Chicago
  • Michigan
    • Ann Arbor, Michigan, United States, 48109
      • Recruiting
      • University of Michigan
  • New York
    • New York, New York, United States, 10016
      • Terminated
      • New York University Langone Medical Center
  • Utah
    • Salt Lake City, Utah, United States, 84112
      • Recruiting
      • University of Utah Medical Center
      • Contact: Bailey
  • Washington
    • Seattle, Washington, United States, 98105
      • Recruiting
      • Seattle Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with a confirmed diagnosis of MPS VII, including patients who already received vestronidase alfa in an Ultragenyx clinical trial or early access/ compassionate use program, and patients not receiving vestronidase alfa.

Patients who were previously enrolled in an Ultragenyx-sponsored clinical trial may participate in the DMP if they have completed or discontinued from the clinical trial.

Description

Inclusion Criteria:

• Diagnosis of MPS VII based on laboratory diagnosis, including either enzymatic or mutation analysis.
• Willing and able to provide written informed consent or, in the case of patients under the age of 18 (or below adult ages as defined by local laws and regulations) or patients >18 years of age who have cognitive deficiencies, provide written assent (if required) and written informed consent by a legally authorized representative after the nature of the DMP has been explained, and prior to any research-related procedures.
• Willing to comply with DMP visit schedule.

Exclusion Criteria:

• Concurrent participation in other pharmaceutical company-sponsored interventional clinical trial unless approved by Ultragenyx.

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with MPS VII receiving vestronidase-alfa; via prescription, or early access/ compassionate use program	Other: No Intervention; Access to any treatment is through authorized commercial use or available expanded access programs only and not as a part of this DMP.
Patients with MPS VII not receiving vestronidase-alfa; no treatment or treatment other than vestronidase alfa	Other: No Intervention; Access to any treatment is through authorized commercial use or available expanded access programs only and not as a part of this DMP.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Clinical Course of MPS VII Disease	To characterize MPS VII disease presentation and progression over time in patients treated and not treated with vestronidase alfa	10 years
Long-term Effectiveness of Vestronidase Alfa	To evaluate longitudinal change in biomarker(s), clinical assessments and patient/caregiver reported outcomes to examine the effectiveness of vestronidase alfa	10 years
Long-term Safety of Vestronidase Alfa	Hypersensitivity reactions, immunogenicity and other safety outcomes will be assessed to examine the long-term safety of vestronidase alfa.	10 years

Collaborators and Investigators

• Sponsor: Ultragenyx Pharmaceutical Inc
• Collaborators: PRA Health Sciences
• Investigators: Study Director: Medical Director, Ultragenyx Pharmaceuticals Inc.

Publications and helpful links

Helpful Links

• Ultragenyx Patient Advocacy/MPS 7 Disease Information
• Ultragenyx Transparency Commitment

Study record dates

Study Major Dates

• Study Start (Actual): January 29, 2018
• Primary Completion (Estimated): May 1, 2033
• Study Completion (Estimated): May 1, 2033

Study Registration Dates

• First Submitted: July 18, 2018
• First Submitted That Met QC Criteria: July 27, 2018
• First Posted (Actual): July 30, 2018

Study Record Updates

• Last Update Posted (Actual): April 15, 2026
• Last Update Submitted That Met QC Criteria: April 14, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: UX003; Mepsevii; vestronidase alfa-vjbk; vestronidase alfa; recombinant human beta-glucuronidase
• Additional Relevant MeSH Terms: Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Mucopolysaccharidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Mucopolysaccharidosis VII
• Other Study ID Numbers: UX003-CL401; EUPAS25082 (Other Identifier: EU PAS Number)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No