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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT03227042
Recruitment Status : Active, not recruiting
First Posted : July 24, 2017
Last Update Posted : October 26, 2022
Information provided by (Responsible Party):
Allievex Corporation

Brief Summary:
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.

Condition or disease
Mucopolysaccharidosis Type IIIB

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Study Type : Observational
Actual Enrollment : 44 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
Actual Study Start Date : November 16, 2017
Estimated Primary Completion Date : October 2025
Estimated Study Completion Date : December 2025

Primary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.

  4. 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).

  5. Disease-specific Biomarkers [ Time Frame: Baseline + every 24 weeks for up to 240 weeks ]
    Urine sample for glycosaminoglycans (GAGs) and creatinine.

  6. 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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Males and Females with a documented diagnosis of MPSIIIB

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03227042

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United States, California
UCSF Benioff Children's Hospital Oakland
Oakland, California, United States, 94609
Hospital Universitario Austral
Pilar, Argentina, B1629AHJ
Australia, Victoria
Murdoch Childrens Research Institute and Royal Children's Hospital
Melbourne, Victoria, Australia, 3052
Medical Genetics Service/HCPA, Department of Genetics/UFRGS
Pôrto Alegre, Rio Grande Do Sul, Brazil, 90035-903
Fundación Cardio Infantil - Instituto de Cardiología
Bogotá, Colombia
University Medical Center Hamburg-Eppendorf
Hamburg, Germany, 20246
Hospital Clínico Universitario de Santiago
Santiago de Compostela, A Coruña, Spain, 15706
MacKay Memorial Children's Hospital
Taipei, Taiwan, 10449
Gazi University Faculty of Medicine
Ankara, Turkey, 06560
Sponsors and Collaborators
Allievex Corporation
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Study Director: Medical Director, MD Allievex Medical Monitor
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Allievex Corporation
ClinicalTrials.gov Identifier: NCT03227042    
Other Study ID Numbers: 250-902
First Posted: July 24, 2017    Key Record Dates
Last Update Posted: October 26, 2022
Last Verified: October 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Allievex Corporation:
Sanfilippo Syndrome Type B
Additional relevant MeSH terms:
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Mucopolysaccharidosis III
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases