Natural History Study to Characterise the Course of Disease Progression in Patients With Mucopolysaccharidosis Type 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. Identifier: NCT02293408
Recruitment Status : Active, not recruiting
First Posted : November 18, 2014
Last Update Posted : July 13, 2017
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 patients with MPS IIIB

Condition or disease
MPS IIIB (Sanfilippo B Syndrome)

Study Type : Observational
Estimated 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
Study Start Date : September 2014
Estimated Primary Completion Date : April 2018
Estimated Study Completion Date : April 2018

Component 1
Assessment of current clinical and neurocognitive status and retrospective chart review
Component 2
Prospective cross-sectional and longitudinal follow-up ( for up to 3 years), non-interventional

Primary Outcome Measures :
  1. Evaluation of the course of disease progression in patients with MPS IIIB as measured by medical history data and prospective clinical, biochemical and neurocognitive assessments. [ Time Frame: component 1 (maximum 6 weeks), component 2 (6 monthly assessments, up to 3 years) ]

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

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.

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

30 patients with MPS IIIB.

Component 1 - 30 patients - The patient has a definitive diagnosis of MPS IIIB.

Component 2 - 15 patients from Component 1, considered to be at risk of rapid disease progression.


Inclusion Criteria:

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

  1. The patient 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 patient is at least 1 year of age (biological age).
  3. The patient or the patient's parent provides informed consent.
  4. The patient is willing and able to comply with protocol requirements to the extent that may be expected of a patient with cognitive impairment.

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

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

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

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

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

    b. The patient 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 (eg. patient uses isolated words, associated words such as two word combination, sentences, poor or reduced language and/or difficult to understand.

  2. The patient has an age equivalent of ≥1 year on the Vineland II.

Exclusion Criteria:

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

  1. The patient has visual or hearing impairments sufficient to preclude cooperation with neurodevelopmental testing.
  2. The patient has a history of poorly-controlled seizure disorder.
  3. The patient is currently receiving medication which, in the Investigator's opinion, would be likely to substantially confound interpretation of the results (eg. the patient has been on the current dose of psychotropic medication for less than 3 months).
  4. The patient is receiving a newly increased dose of melatonin (eg. less than 3 months on current dose).
  5. The patient has previously received an investigational therapy for MPS IIIB (with the exception of high dose Genistein >150mg/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 patient has any other prior or ongoing medial 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 identifier (NCT number): NCT02293408

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

Responsible Party: Alexion Pharmaceuticals Identifier: NCT02293408     History of Changes
Other Study ID Numbers: NGLU-NH02
First Posted: November 18, 2014    Key Record Dates
Last Update Posted: July 13, 2017
Last Verified: July 2017

Keywords provided by Alexion Pharmaceuticals:
Mucopolysaccharidosis type IIIB
Sanfilippo Syndrome

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