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Natural History Study to Characterise the Course of Disease Progression in Participants With Mucopolysaccharidosis Type IIIB

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ClinicalTrials.gov Identifier: NCT02293408
Recruitment Status : Terminated (The Sponsor's decision to terminate the SBC-103 program was reached after review of the data from all interventional clinical studies of SBC-103.)
First Posted : November 18, 2014
Last Update Posted : September 13, 2018
Sponsor:
Information provided by (Responsible Party):
Alexion Pharmaceuticals

Brief Summary:
The objectives of this study are to describe the clinical and biochemical characteristics and course of disease progression in participants with Mucopolysaccharidosis type IIIB (MPS IIIB)

Condition or disease
MPS IIIB (Sanfilippo B Syndrome)

Study Type : Observational
Actual Enrollment : 30 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Prospective Cross-Sectional and Longitudinal Study With Additional Retrospective Chart Review to Evaluate Clinical and Biochemical Characteristics and Disease Progression in Patients With Mucopolysaccharidosis Type IIIB
Actual Study Start Date : September 14, 2014
Actual Primary Completion Date : July 11, 2017
Actual Study Completion Date : July 11, 2017


Group/Cohort
Component 1
Component 1 involved an evaluation of the clinical characteristics of MPS IIIB in participants based on a retrospective chart review to collect information on demographics, clinical history, diagnostic tests, treatments, clinical chemistry and hematology test results, physical examination findings, anthropometric data, radiology results, and supportive interventions performed over a period of up to 6 weeks.
Component 2
Component 2 involved a longitudinal evaluation of the course of disease progression in a subset of participants considered to be at risk of rapid disease progression, who, after completing Component 1, were to be prospectively followed for a period of at least 1 year (Longitudinal Follow-Up) and up to 3 years total (Extended Follow-Up).



Primary Outcome Measures :
  1. Collection And Analysis Of Clinical Characteristics Of MPS IIIB [ Time Frame: Baseline to Week 43 ]
    Component 1 involved an evaluation of the clinical characteristics of MPS IIIB in participants based on a retrospective chart review to collect information on demographics, clinical history, diagnostic tests, treatments, clinical chemistry and hematology test results, physical examination findings, anthropometric data, radiology results, and supportive interventions performed over a period of up to 6 weeks.

  2. Longitudinal Analysis Of The Course Of Disease Progression In Participants With MPS IIIB [ Time Frame: Baseline to Week 43 ]
    Component 2 involved a longitudinal evaluation of the course of disease progression in a subset of participants considered to be at risk of rapid disease progression, who, after completing Component 1, were to be prospectively followed for a period of at least 1 year (Longitudinal Follow-Up) and up to 3 years total (Extended Follow-Up).


Biospecimen Retention:   Samples With DNA
Clinical laboratory tests, including heparan sulfate and exploratory disease biomarkers from serum and urine.


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Ages Eligible for Study:   1 Year and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

27 participants with MPS IIIB were enrolled and analyzed in Component 1.

Component 1 (27 participants): The participant has a definitive diagnosis of MPS IIIB. Component 2 (15 participants from Component 1): The participant is considered to be at risk of rapid disease progression.

Criteria

Inclusion Criteria:

A participant must meet all of the following inclusion criteria to be eligible for this study:

  1. The participant has a definitive diagnosis of MPS IIIB, as determined by either of the following:

    1. Documented deficiency in alpha-N-acetyl-glucosaminidase (NAGLU) enzyme activity or
    2. Documented functionally-relevant mutations in both alleles of the NAGLU gene.
  2. The participant is at least 1 year of age (biological age).
  3. The participant or the participant's parent provides informed consent.
  4. The participant is willing and able to comply with protocol requirements to the extent that may be expected of a participant with cognitive impairment.

In addition to the eligibility criteria above, a participant must meet all of the following criteria for Component 2:

  1. The participant meets criterion a or criterion b below.

    a. The participant is considered to be at risk of rapid disease progression based on at least 1 of the following criteria:

    i. The participant has documented mutations of the NAGLU gene that are reported to be linked to rapid disease progression (for example, disease onset before 6 years of age), or

    ii. The participant has a sibling, or other first- or second-degree relative with rapidly progressing MPS IIIB (for example, disease onset before 6 years of age).

    b. The participant had disease onset prior to 6 years of age (biological age), as defined by:

    i. Cognitive delay evaluated by Bayley Scales of Infant Development, Third Edition (BSID-III) or Kaufman Assessment Battery for Children, Second Edition (KABC-II), or

    ii. Language delay, plateauing, or regression of language skills as determined by the Investigator (for example, participant uses isolated words, associated words such as 2-word combinations, sentences, poor or reduced language, and/or difficult to understand).

  2. The participant has an age equivalent of ≥1 year on the Vineland Adaptive Behavior Scales, Second Edition (Vineland II).

Exclusion Criteria:

A participant who meets any of the following exclusion criteria will be ineligible for this study:

  1. The participant has visual or hearing impairments sufficient to preclude cooperation with neurodevelopmental testing.
  2. The participant has a history of poorly-controlled seizure disorder.
  3. The participant is currently receiving medication, which, in the Investigator's opinion, would be likely to substantially confound interpretation of the results (for example, the participant has been on the current dose of psychotropic medication for less than 3 months).
  4. The participant is receiving a newly increased dose of melatonin (for example, less than 3 months on current dose).
  5. The participant has previously received an investigational therapy for MPS IIIB (with the exception of high dose Genistein >150 milligram/kilogram (mg/kg)/day, which will require a minimum of 3 months wash-out before entering the study) or has had hematopoietic stem cell transplant (HSCT).
  6. The participant has any other prior or ongoing medical condition that may present a safety risk, interfere with study compliance, or confound data interpretation.

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): NCT02293408


Locations
United States, Minnesota
Minneapolis, Minnesota, United States
United States, Pennsylvania
Pittsburgh, Pennsylvania, United States
Brazil
Porto Alegre, Brazil
Italy
Monza, Italy
Portugal
Coimbra, Portugal
Spain
Barcelona, Spain
United Kingdom
Birmingham, United Kingdom
Sponsors and Collaborators
Alexion Pharmaceuticals

Responsible Party: Alexion Pharmaceuticals
ClinicalTrials.gov Identifier: NCT02293408     History of Changes
Other Study ID Numbers: NGLU-NH02
First Posted: November 18, 2014    Key Record Dates
Last Update Posted: September 13, 2018
Last Verified: September 2018

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

Keywords provided by Alexion Pharmaceuticals:
MPS IIIB
Mucopolysaccharidosis
Mucopolysaccharidosis type IIIB
Sanfilippo Syndrome Type B

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