Mucopolysaccharidosis VII Disease Monitoring Program

Recruiting

• Conditions: MPS VII; Mucopolysaccharidosis VII; MPS 7; Sly Syndrome
• Interventions: Other: No Intervention

• Registration Number: NCT03604835
• Lead Sponsor: Ultragenyx Pharmaceutical Inc

Brief Summary

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.

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 Timeline

• Study Start: 2018-01-29
• Study First Submitted: 2018-07-18
• Study First Submitted QC: 2018-07-27
• Study First Posted: 2018-07-30
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-11
• Last Update Posted: 2025-04-15
• Primary Completion: 2033-05
• Study Completion: 2033-05

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients with MPS VII not receiving vestronidase-alfa	No Intervention	no treatment or treatment other than vestronidase alfa
Patients with MPS VII receiving vestronidase-alfa	No Intervention	via prescription, or early access/ compassionate use program

Primary Outcome Measures

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

Trial Locations

Locations (14)

Ann & Robert H. Lurie Children's Hospital of Chicago; 🇺🇸 Chicago, Illinois, United States

Hospital de Clínicas de Porto Alegre; 🇧🇷 Porto Alegre, Rio Grande Do Sul, Brazil

Children's Hospital of Orange County; 🇺🇸 Orange, California, United States

Centre Hospitalier Universitaire La Timone; 🇫🇷 Marseille, Provence Alpes Cote D'Azur, France

Children's National Health System; 🇺🇸 Washington, District of Columbia, United States

New York University Langone Medical Center; 🇺🇸 New York, New York, United States

Laboratorio de Neuroquimica Dr. N.A. Chamoles S.R.L.; 🇦🇷 Buenos Aires, Argentina

Erasmus University Medical Center Rotterdam; 🇳🇱 Rotterdam, Zuid-Holland, Netherlands

Universitätsmedizin der Johannes Gutenberg-Universität Mainz; 🇩🇪 Mainz, Germany

Centro Hospitalar do Porto; 🇵🇹 Porto, Portugal

Hospital Universitario Virgen del Rocío Pabellón Infantil; 🇪🇸 Sevilla, Spain

Seattle Children's Hospital; 🇺🇸 Seattle, Washington, United States

University of Utah Medical Center; 🇺🇸 Salt Lake City, Utah, United States

University of Michigan; 🇺🇸 Ann Arbor, Michigan, United States