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

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ClinicalTrials.gov Identifier: NCT03227042
Recruitment Status : Recruiting
First Posted : July 24, 2017
Last Update Posted : August 29, 2018
Sponsor:
Information provided by (Responsible Party):
BioMarin Pharmaceutical

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 BioMarin in this study.

Condition or disease
Mucopolysaccharidosis Type IIIB

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 31, 2022
Estimated Study Completion Date : November 15, 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.



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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
Criteria

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


Contacts
Contact: BioMarin Trial Inquiries 1-800-983-4587 medinfo@bmrn.com

Locations
United States, California
UCSF Benioff Children's Hospital Oakland Recruiting
Oakland, California, United States, 94609
Contact: Christopher Luc    510-428-3885 ext 4785    cluc@mail.cho.org   
Principal Investigator: Paul Harmatz, MD         
Australia, Victoria
Murdoch Childrens Research Institute and Royal Children's Hospital Recruiting
Melbourne, Victoria, Australia, 3052
Contact: Shannon Kokoszka    +61 3 9936 6157    shannon.kokoszka@rch.org.au   
Principal Investigator: Heidi Peters, MD         
Brazil
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    laposilva@hcpa.edu.br   
Principal Investigator: Roberto Giugliani, MD         
Germany
University Medical Center Hamburg-Eppendorf Recruiting
Hamburg, Germany, 20246
Contact: Martina Lippold    49-40-7410-53710    m.lippold@uke.de   
Contact: Julia Voelker    00    j.voelker@uke.de   
Principal Investigator: Nicole Muschol, MD         
Spain
Hospital Clínico Universitario de Santiago Recruiting
Santiago de Compostela, A Coruña, Spain, 15706
Contact: María José De Castro    +34.698.18.64.38    mj.decastrol@gmail.com   
Principal Investigator: Maria Luz Couce, MD         
Taiwan
MacKay Memorial Children's Hospital Recruiting
Taipei, Taiwan, 10449
Contact: Youhsin Huang    +886-2-25433535 ext 3089    mmhrdchuang@gmail.com   
Principal Investigator: Shuan-Pei Lin, MD         
Turkey
Gazi University Faculty of Medicine Recruiting
Ankara, Turkey, 06560
Contact: Mine Tutkal    +90 505 253 86 34    minetutkal.74@gmail.com   
Principal Investigator: Ilyas Okur, MD         
Sponsors and Collaborators
BioMarin Pharmaceutical
Investigators
Study Director: Medical Director, MD BioMarin Medical Monitor

Responsible Party: BioMarin Pharmaceutical
ClinicalTrials.gov Identifier: NCT03227042     History of Changes
Other Study ID Numbers: 250-902
First Posted: July 24, 2017    Key Record Dates
Last Update Posted: August 29, 2018
Last Verified: August 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by BioMarin Pharmaceutical:
Sanfilippo Syndrome Type B
MPS IIIB
MPS 3 B

Additional relevant MeSH terms:
Mucopolysaccharidoses
Mucopolysaccharidosis III
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases