Longitudinal Studies of Brain Structure and Function in MPS Disorders

Conditions:Orthopedic, Endocrine, Metabolic
Therapuetic Areas:Endocrinology, Pharmacology / Toxicology, Orthopedics / Podiatry
Age Range:6 - Any
Start Date:September 2009
End Date:August 2019
Contact:Ashley Schneider

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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

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
We found this trial at
Oakland, California
Principal Investigator: Paul Harmatz, M.D.
Phone: 510-428-3885
Oakland, CA
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Minneapolis, Minnesota 55455
(612) 625-5000
Univ of Minnesota With a flagship campus in the heart of the Twin Cities, and...
Minneapolis, MN
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70 Washington Square S
New York, New York 10012
(212) 998-1212
Principal Investigator: Heather Lau, M.D.
Phone: 212-263-6981
New York University More than 175 years ago, Albert Gallatin, the distinguished statesman who served...
New York, NY
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555 University Avenue
Toronto, Ontario M5G 1X8
Principal Investigator: Michal Inbar-Feigenberg, M.D.
Phone: 416-813-7654
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