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Completed

NCT Number: NCT02037880

Natural History Studies of Mucopolysaccharidosis III

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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Key information

Conditions

Mucopolysaccharidosis Type IIIA Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis III Mucopolysaccharidosis Type IIIB Nutritional and Metabolic Diseases Skin and Connective Tissue Diseases

Age range

2 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

About this study

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:

  • Individual rates of decline in motor and cognitive function in a cohort of potential clinical trial patients
  • The natural history of outcome measures in order to assess their appropriateness as outcomes in an eventual trial
  • Baseline functional data in patients who will be potential candidates for an eventual trial
  • 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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Age 2 years old or greater
  • Confirmed diagnosis of MPSIIIA or MPSIIIB by either of two methods:
  • No detectable or significantly reduced NAGLU (MPSIIIB) or SGSH (MPSIIIA) activity in serum or leukocyte assay
  • Genomic DNA mutation analysis demonstrating a homozygous or compound heterozygous mutations in the NAGLU (MPSIIIB) or SGSH (MPSIIIA) genes
  • Clinical history of or examination features of neurologic dysfunction.

Exclusion criteria

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

Treatment and study plan

Lumbar Puncture

Procedure

Magnetic Resonance Imaging (MRI) of the brain

Device

Primary outcomes

  1. Cognitive function

    Time frame: up to 12 months

    Assessed using the Leiter International Performance assessment, a non-verbal assessment of cognitive function.

Secondary outcomes

  1. Adaptive functioning

    Time frame: Months 0, 6, and 12

    Parental assessment of adaptive functioning using the Adaptive Behavioral Assessment System

  2. Emotional/behavioral function

    Time frame: Months 0, 6, and 12

    Assessment of emotional/behavioral problems using the Child Behavioral Checklist

  3. White and grey matter brain volumes

    Time frame: Months 0 and 12

    Assessment of brain volumes by MRI. MRI will be performed under sedation.

Other outcomes

  1. Serum and cerebrospinal fluid NAGLU (MPSIIIB subjects) or SGSH (MPSIIIA subjects) levels

    Time frame: Months 0 and 12

    Measurement of NAGLU or SGSH activity in serum (by venipuncture) and CSF (by lumbar puncture). Lumbar puncture will be performed under sedation.

  2. Liver size

    Time frame: Months 0 and 12

    Liver volume will be assessed by abdominal MRI obtained under the same sedation event as brain MRI and lumbar puncture.

Sponsors and collaborators

Lead sponsor

Nationwide Children's Hospital

Other

Collaborators

  • Sanfilippo Children's Research Foundation
  • The Children's Medical Research Foundation
  • The Sanfilippo Research Foundation

Registry information

Important dates

Study start
2014
Primary completion
2015
Study completion
2015
First posted
Jan 16, 2014
Registry last updated
Nov 16, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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