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Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)

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: NCT01509768
Recruitment Status : Completed
First Posted : January 13, 2012
Last Update Posted : March 17, 2021
Sponsor:
Information provided by (Responsible Party):
Takeda ( Shire )

Study Description
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Brief Summary:
The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future treatment trials of MPS IIIB using predefined assessments including standardized clinical, biochemical, neurocognitive, developmental, and imaging measures.

Condition or disease
Sanfilippo Syndrome Type B

Detailed Description:
This is a multicenter longitudinal, prospective, natural history study of patients with MPSIIIB designed to identify potential surrogate endpoints that may be utilized in future Enzyme replacement therapy (ERT) trials of MPS IIIB via defined assessments including standardized clinical, biochemical, neurocognitive, development, and imaging measures.
Study Design
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Study Type : Observational
Actual Enrollment : 19 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: An Observational Prospective Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
Actual Study Start Date : April 9, 2012
Actual Primary Completion Date : October 10, 2013
Actual Study Completion Date : October 10, 2013

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
No treatment
This is a longitudinal, prospective, observational, natural history study of patients with MPS IIIB to identify endpoints that may be used for future ERT trials via standardized clinical, biochemical, neurocognitive, developmental, behavioral and imaging measures


Outcome Measures
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Primary Outcome Measures :
  1. evaluate the course of disease progression in patients with MPS IIIB who are untreated with any investigational products to inform possible future treatment studies [ Time Frame: 13 months ]

Biospecimen Retention:   Samples With DNA
blood (plasma and serum), cerebrospinal fluid (CSF), urine

Eligibility Criteria
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Ages Eligible for Study:   1 Year to 10 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a documented diagnosis of MPS IIIB and who are currently untreated with investigational products (drugs/device) for this disease. Patient must also be ≥ 1 year and < 10 years of age with an age equivalent on the Vineland Adaptive Behavior Scales (VABS) of ≥ 1 year.
Criteria

Inclusion Criteria:

Each patient must meet all of the following criteria to be enrolled in this study.

  1. Definitive diagnosis of MPS IIIB, as determined by one of the following:

    1. Documented deficiency in alpha-N-acetylglucosaminidase (NAGLU) enzyme activity of ≤10% of the lower limit of the normal range as measured in fibroblasts, leukocytes, plasma, or serum (based on normal range for diagnosis of MPS IIIB). Patients who do not already have a documented deficiency of NAGLU activity will provide a blood sample during screening for determination of NAGLU activity level in their serum. OR
    2. Two documented mutations in the NAGLU gene. Patients who do not already have a documented genotype of NAGLU will provide a blood sample during screening for NAGLU genotyping.
  2. The patient is ≥1 and < 10 years of age and has an age equivalent on the Vineland Adaptive Behavior Scales (VABS) of ≥1 year
  3. The patient is medically stable, in the opinion of the Investigator, to accommodate the protocol requirements, including travel and assessments, without placing an undue burden on the patient/patient's family.
  4. The patient, patient's parent(s) or legal guardian(s) has voluntarily signed and dated an Institutional Review Board/Independent Ethics Committee-approved informed consent (assent if applicable) form after all relevant aspects of the study have been explained and discussed with the patient, the patient's parent(s), or legal guardian(s).Exclusion Criteria:

Patients will be excluded from the study if they meet any of the following criteria at screening:

  1. Presence of significant non-MPS IIIB related central nervous system (CNS) impairment or behavioral disturbances, sufficient, in the opinion of the Investigator, to preclude performance of study neurocognitive and developmental testing procedures, or that would confound the scientific integrity or interpretation of study assessments.
  2. Visual or hearing impairment sufficient to preclude cooperation with neurodevelopmental testing.
  3. Patient has a known or suspected hypersensitivity to anesthesia or is thought to be at an unacceptable risk from anesthesia, due to airway compromise or other conditions, in the opinion of the Investigator.
  4. Personal history or family history of neuroleptic malignant syndrome, malignant hyperthermia, or other anesthesia-related concerns.
  5. History of poorly controlled seizure disorder.
  6. Currently receiving psychotropic or other medications, which in the Investigator's opinion would be likely to substantially confound test results.
  7. History of bleeding disorder, inability to abstain from medications that affect blood clotting(e.g., aspirin, Non-steroidal anti-inflammatory drug (NSAIDs)), or history of their ingestion within 1 week prior to a lumbar puncture.
  8. History of complications from previous lumbar punctures that, in the opinion of the Investigator, place the patient at increased risk from this procedure.
  9. The patient is participating, plans to participate, or participated in a clinical trial of another investigational medicinal product, or has received a vaccination, within the 30 days prior to the study or for less than 5 half lives (whichever is longer) of the investigational product.
  10. History of hematopoietic stem cell or bone marrow transplant.
  11. Unable to assent, or the patient's parent(s) or patient's legal guardian(s) is/are unable to understand the nature, scope, and possible consequences of the study, or do/does not agree to comply with the protocol defined schedule of assessments.
  12. Patient is unable to comply with the protocol (e.g., has a clinically relevant medical condition making implementation of the protocol difficult, unstable social situation, or otherwise unlikely to complete the study) or is, in the opinion of the Investigator, otherwise unsuited for the study.
  13. The patient has any item (braces, tattoos, etc) which would exclude the patient from being able to undergo MRI according to local Institutional Policy, or the patient has any other situation that would exclude the patient from undergoing any other procedure required in this study.
  14. The patient is pregnant.
Contacts and Locations
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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): NCT01509768


Locations
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United States, California
Children's Hospital and Research Center
Oakland, California, United States, 94609-1809
United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55454
Germany
Johannes Gutenberg University Medical Center
Mainz, Germany, 55131
United Kingdom
Great Ormond Street Hospital for Children
London, United Kingdom, WC1N 3JH
Sponsors and Collaborators
Shire
Investigators
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Study Director: Study Director Takeda
More Information
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Additional Information:

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: Shire
ClinicalTrials.gov Identifier: NCT01509768    
Other Study ID Numbers: HGT-SNB-088
First Posted: January 13, 2012    Key Record Dates
Last Update Posted: March 17, 2021
Last Verified: March 2021
Keywords provided by Takeda ( Shire ):
MPS IIIB
Additional relevant MeSH terms:
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Mucopolysaccharidosis III
Syndrome
Mucopolysaccharidoses
Disease
Pathologic Processes
Carbohydrate Metabolism, Inborn Errors
 Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases