Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Synd… (NCT01509768) | Clinical Trial Compass
CompletedNot Applicable
Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
United States, Germany, United Kingdom19 participantsStarted 2012-04-09
Plain-language 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.
Who can participate
Age range1 Year – 10 Years
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
✓. Definitive diagnosis of MPS IIIB, as determined by one of the following:
✓. 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
✓. 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.
✓. The patient is ≥1 and \< 10 years of age and has an age equivalent on the Vineland Adaptive Behavior Scales (VABS) of ≥1 year
✓. 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.
Exclusion criteria
✕. 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.
✕. Visual or hearing impairment sufficient to preclude cooperation with neurodevelopmental testing.
✕. 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.
What they're measuring
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
✕. Personal history or family history of neuroleptic malignant syndrome, malignant hyperthermia, or other anesthesia-related concerns.
✕. History of poorly controlled seizure disorder.
✕. Currently receiving psychotropic or other medications, which in the Investigator's opinion would be likely to substantially confound test results.
✕. 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.
✕. History of complications from previous lumbar punctures that, in the opinion of the Investigator, place the patient at increased risk from this procedure.