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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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03227042
Recruitment Status : Recruiting
First Posted : July 24, 2017
Last Update Posted : March 9, 2020
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
Estimated Enrollment : 60 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 : July 2022
Estimated Study Completion Date : July 2022

Primary Outcome Measures :
  1. Neurocognitive function [ Time Frame: Baseline + every 24 weeks for up to 192 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 192 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 192 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 192 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 192 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 identifier (NCT number): NCT03227042

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Contact: Allievex Trial Inquiries (415) 635-2824

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United States, California
UCSF Benioff Children's Hospital Oakland Recruiting
Oakland, California, United States, 94609
Contact: Jill Nicholas    510-428-3885 ext 5241   
Principal Investigator: Paul Harmatz, MD         
Hospital Universitario Austral Recruiting
Pilar, Argentina, B1629AHJ
Contact: Hernan M Amartino, MD    '54-230-448-2489   
Australia, Victoria
Murdoch Childrens Research Institute and Royal Children's Hospital Active, not recruiting
Melbourne, Victoria, Australia, 3052
Medical Genetics Service/HCPA, Department of Genetics/UFRGS Recruiting
Pôrto Alegre, Rio Grande Do Sul, Brazil, 90035-903
Contact: Larissa Da Silva    +55 51 3359 6366   
Principal Investigator: Roberto Giugliani, MD         
Fundación Cardio Infantil - Instituto de Cardiología Recruiting
Bogotá, Colombia
Contact: Martha L Solano Vilarreal, MD    573203465408   
University Medical Center Hamburg-Eppendorf Recruiting
Hamburg, Germany, 20246
Contact: Martina Lippold    49-40-7410-53710   
Contact: Julia Voelker    00   
Principal Investigator: Nicole Muschol, MD         
Hospital Clínico Universitario de Santiago Recruiting
Santiago de Compostela, A Coruña, Spain, 15706
Contact: María José De Castro    +34.698.18.64.38   
Principal Investigator: Maria Luz Couce, MD         
MacKay Memorial Children's Hospital Recruiting
Taipei, Taiwan, 10449
Contact: Youhsin Huang    +886-2-25433535 ext 3089   
Principal Investigator: Shuan-Pei Lin, MD         
Gazi University Faculty of Medicine Recruiting
Ankara, Turkey, 06560
Contact: Mine Tutkal    +90 505 253 86 34   
Principal Investigator: Ilyas Okur, MD         
Sponsors and Collaborators
Allievex Corporation
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Study Director: Medical Director, MD Allievex Medical Monitor
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Responsible Party: Allievex Corporation Identifier: NCT03227042    
Other Study ID Numbers: 250-902
First Posted: July 24, 2017    Key Record Dates
Last Update Posted: March 9, 2020
Last Verified: March 2020
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