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Completed

NCT Number: NCT01870375

Longitudinal Studies of Brain Structure and Function in MPS Disorders

Neurobehavioral function and quality of life are compromised in many patients with mucopolysaccharidosis (MPS) disorders. The long-term goals of this research are to: 1) more accurately inform patients/parents regarding potential neurobehavioral outcomes; 2) develop sensitive measures of disease progression and central nervous system (CNS) treatment outcome; and 3) help clinical researchers develop direct treatments for specific brain structures/functions. The investigators hypothesize that specific and localized neuroimaging and neuropsychological findings and their relationship will be distinct for each MPS disorder. It is further hypothesized that without treatment, functions will decline and structure will change over time in a predictable fashion, and will be related to locus of abnormality and stage of disease.

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Key information

Conditions

Mucopolysaccharidosis Type I Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Death Death, Sudden Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Infant Death Intellectual Disability Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis I Mucopolysaccharidosis II Mucopolysaccharidosis IV Mucopolysaccharidosis Type II Mucopolysaccharidosis Type IV Mucopolysaccharidosis Type VI Mucopolysaccharidosis Type VII Mucopolysaccharidosis VI Mucopolysaccharidosis VII Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Skin and Connective Tissue Diseases Sudden Infant Death X-Linked Intellectual Disability

Age range

6 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital for Sick Children, Toronto, Ontario, Canada

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About this study

The mucopolysaccharidoses (MPS diseases) are lysosomal disorders (inborn errors of metabolism) that progressively affect most organ systems in the body, usually beginning in childhood. Recent treatment advances have produced amelioration of some of these malfunctions, but notably brain and bone have been difficult to effectively treat. This research addresses the brain abnormalities in the MPS disorders, about which little is known.

The objectives of this research are:

  • to identify abnormalities of central nervous system (CNS) structure and function as well as to measure quality-of-life (QOL) in both treated and untreated MPS patients over time. The investigators will accomplish this through longitudinal studies of enrolled patients in designated centers in North America.
  • to develop quantitative measurements of change, including direct measurement of neuropsychological function; surrogate MRI markers; and biomarkers to measure stage of disease and treatment outcomes.
  • to examine the degree to which independent variables have an impact on both functional and structural outcome. Independent variables may include, but are not limited to: age at first treatment, severity of disease, types of medical abnormalities, nature of genetic mutation, medical events, and sensory abnormalities.
  • to examine how treatments such as Enzyme Replacement Therapy (ERT), Hematopoietic Cell Transplant (HCT), substrate reduction, and other palliative and rehabilitative therapies differentially affect CNS structure and function, as well as the subject's quality of life.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • Any MPS I, II, IV, VI or VII child or adult aged 6 years of age or older

Exclusion criteria

  • Exclusion Criteria for Neuroimaging:
  • Participants with:
  • Pacemakers
  • Any indwelling electronic device including programmable shunts
  • Orthodontic braces unless they are not made of metal
  • Other implanted metal in the body other than titanium
  • Unable to stay still during MRI because of low cognitive function, behavioral dysregulation, or young age, if the patient is not a clinical patient having sedation/anesthesia
  • Pregnancy
  • Exclusion Criteria for Neuropsychological and Neurobehavioral Testing
  • Participants who:
  • Are too functionally impaired for testing

Treatment and study plan

Primary outcomes

  1. Change in Cognitive Ability (IQ)

    Time frame: Baseline, Year 1, Year 2, Year 3

    Age-appropriate IQ tests will be administered at baseline and during subject's annual visit.

Secondary outcomes

  1. Change in Quality of Life

    Time frame: Baseline, Year 1, Year 2, Year 3

    Age-appropriate Quality of Life measures will be administered at baseline and during subject's annual visit.

  2. Change in Neuropsychological Status

    Time frame: Baseline, Year 1, Year 2, Year 3

    Memory, Attention, Visual Spatial, and Visual Motor functions will be assessed with age-appropriate measures administered at baseline and during subject's annual visit.

  3. Change in Emotional and Behavioral Health

    Time frame: Baseline, Year 1, Year 2, Year 3

    Age-appropriate measures of emotional and behavioral health will be administered at baseline and during subject's annual visit.

  4. Change Shown in Magnetic Resonance Imaging of the Brain

    Time frame: Baseline, Year 1, Year 2, Year 3

    Magnetic resonance imaging of each subject's brain will be performed at baseline and during subject's annual visit to acquire volumetric, diffusion tensor imaging (DTI), and resting state data. These data will be analyzed to identify any changes occurring over time.

  5. Change in Adaptive Functions

    Time frame: Baseline, Year 1, Year 2, Year 3

    Vineland Adaptive Behavior Scales, a measure of communication, daily living skills, socialization and motor function, will be administered at baseline and during subject's annual visit.

Sponsors and collaborators

Lead sponsor

University of Minnesota

Other

Collaborators

  • Lysosomal Disease Network
  • National Center for Advancing Translational Sciences (NCATS)
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • Rare Diseases Clinical Research Network

Registry information

Important dates

Study start
2009
Primary completion
2019
Study completion
2019
First posted
Jun 6, 2013
Registry last updated
Sep 6, 2019

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

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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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