Natural History Studies of Mucopolysaccharidosis III

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

25 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-02-28

Study Completion Date

2015-11-30

Brief Summary

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The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical trials.

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Detailed Description

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Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) is a group of four devastating genetic diseases that result in the abnormal accumulation of glycosaminoglycans in body tissues. In MPSIII the predominant symptoms occur due to accumulation within the central nervous system (CNS), including the brain and spinal cord, resulting in cognitive decline, motor dysfunction, and eventual death.

In anticipation for future therapeutic studies for MPSIIIA and MPSIIIB, we are performing a natural history study to identify the following:

1. Individual rates of decline in motor and cognitive function in a cohort of potential clinical trial patients
2. The natural history of outcome measures in order to assess their appropriateness as outcomes in an eventual trial
3. Baseline functional data in patients who will be potential candidates for an eventual trial
4. Biomarkers of disease progression over a 12-month interval, including changes in brain MRI and in cerebrospinal fluid

Patients in this study will need to come to Nationwide Children's Hospital in Columbus, Ohio, three times. At each of these three time points, cognitive outcome measures will be assessed: at baseline (visit 1), 6 months (visit 2), and at 12 months (visit 3). At baseline (visit 1) and 12 months (visit 3), an MRI and a lumbar puncture will be performed.

Conditions

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Mucopolysaccharidosis Type IIIA Mucopolysaccharidosis Type IIIB

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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MPS IIIA/B Subjects

Cohort will be followed for one year to assess natural history of the disease.

Lumbar puncture

Intervention Type PROCEDURE

Magnetic Resonance Imaging (MRI) of the brain

Intervention Type DEVICE

Interventions

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Lumbar puncture

Intervention Type PROCEDURE

Magnetic Resonance Imaging (MRI) of the brain

Intervention Type DEVICE

Eligibility Criteria

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Inclusion Criteria

1. Age 2 years old or greater
2. Confirmed diagnosis of MPSIIIA or MPSIIIB by either of two methods:

1. No detectable or significantly reduced NAGLU (MPSIIIB) or SGSH (MPSIIIA) activity in serum or leukocyte assay
2. Genomic DNA mutation analysis demonstrating a homozygous or compound heterozygous mutations in the NAGLU (MPSIIIB) or SGSH (MPSIIIA) genes
3. Clinical history of or examination features of neurologic dysfunction.

Exclusion Criteria

1. Inability to participate in the clinical evaluations
2. Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics
3. Inability to be safely sedated in the opinion of the clinical anesthesiologist

Minimum Eligible Age

2 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No