A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

October 24, 2022 updated by: Allievex Corporation
This is a natural history study for children up to 18 years of age who have been diagnosed with Mucopolysaccharidosis Type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B). Mucopolysaccharidosis type IIIB is a severe neurodegenerative disorder. The information gathered from this trial may help inform the design and interpretation of subsequent interventional studies. No clinical intervention or study drug is provided by Allievex in this study.

Study Overview

Status

Active, not recruiting

Conditions

Study Type

Observational

Enrollment (Actual)

44

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Argentina
      • Pilar, Argentina, B1629AHJ
        • Hospital Universitario Austral
  • Australia
    • Victoria
      • Melbourne, Victoria, Australia, 3052
        • Murdoch Childrens Research Institute and Royal Children's Hospital
  • Brazil
    • Rio Grande Do Sul
      • Pôrto Alegre, Rio Grande Do Sul, Brazil, 90035-903
        • Medical Genetics Service/HCPA, Department of Genetics/UFRGS
  • Colombia
      • Bogotá, Colombia
        • Fundación Cardio Infantil - Instituto de Cardiología
  • Germany
      • Hamburg, Germany, 20246
        • University Medical Center Hamburg-Eppendorf
  • Spain
    • A Coruña
      • Santiago de Compostela, A Coruña, Spain, 15706
        • Hospital Clinico Universitario de Santiago
  • Taiwan
      • Taipei, Taiwan, 10449
        • MacKay Memorial Children's Hospital
  • Turkey
      • Ankara, Turkey, 06560
        • Gazi University Faculty of Medicine
  • United States
    • California
      • Oakland, California, United States, 94609
        • UCSF Benioff Children's Hospital Oakland

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.

Eligibility Criteria

Ages Eligible for Study

No older than 16 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Males and Females with a documented diagnosis of MPSIIIB

Description

Inclusion Criteria:

  • Have deficient NAGLU enzyme activity at Baseline. Blood for NAGLU enzyme activity will be collected and analyzed centrally.
  • Is up to 18 years of age
  • Written informed consent from parent or legal guardian and assent from subject, if required
  • Has the ability to comply with protocol requirements, in the opinion of the investigator

Exclusion Criteria:

  • Has another neurological illness that may have caused cognitive decline (e.g., trauma, meningitis, or hemorrhage) before study entry
  • Has received stem cell, gene therapy, or enzyme replacement therapy for MPS IIIB
  • Has received any investigational medication within 30 days prior to the Baseline visit or is scheduled to receive any investigational drug during the course of the study
  • Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with protocol requirements, the subject's wellbeing or safety, or the interpretability of the subject's clinical data.
  • Is currently participating in another natural history study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Neurocognitive function
Time Frame: Baseline + every 24 weeks for up to 240 weeks
A neurodevelopmental assessment will be performed using standardized developmental tests to provide quantifiable measures of neurocognitive function.
Baseline + every 24 weeks for up to 240 weeks
Behavioral function
Time Frame: Baseline + every 24 weeks for up to 240 weeks
Disease-related behaviors will be assessed using an MPS IIIB specific behavior rating scale.
Baseline + every 24 weeks for up to 240 weeks
Quality of Life Tests
Time Frame: Baseline + every 24 weeks for up to 240 weeks
Multiple QoL tools will be used to capture physical, mental, and social well-being of the patient as well as to examine the impact of the patient's disease on the parent/guardian and family.
Baseline + every 24 weeks for up to 240 weeks
Sleep habits
Time Frame: Baseline + every 24 weeks for up to 240 weeks
Patient sleep habits will be assessed using Children's Sleep Habits Questionnaires (CSHQ).
Baseline + every 24 weeks for up to 240 weeks
Disease-specific Biomarkers
Time Frame: Baseline + every 24 weeks for up to 240 weeks
Urine sample for glycosaminoglycans (GAGs) and creatinine.
Baseline + every 24 weeks for up to 240 weeks
Biochemical, Molecular, Cellular and Genetic Markers of Disease Burden
Time Frame: Once (at baseline visit)
Blood and urine samples will be used to evaluate biochemical, molecular cellular, and genetic/genomic aspects of MPS IIIB.
Once (at baseline visit)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Allievex Corporation

Investigators

  • Study Director: Medical Director, MD, Allievex Medical Monitor

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 16, 2017

Primary Completion (Anticipated)

October 1, 2025

Study Completion (Anticipated)

December 1, 2025

Study Registration Dates

First Submitted

July 11, 2017

First Submitted That Met QC Criteria

July 19, 2017

First Posted (Actual)

July 24, 2017

Study Record Updates

Last Update Posted (Actual)

October 26, 2022

Last Update Submitted That Met QC Criteria

October 24, 2022

Last Verified

October 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 250-902

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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