Mucopolysaccharidosis Type I Clinical Trial
Official title:
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.
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:
1. 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.
2. 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.
3. 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.
4. 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.
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