Longitudinal Studies of Brain Structure and Function in MPS Disorders
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|ClinicalTrials.gov Identifier: NCT01870375|
Recruitment Status : Completed
First Posted : June 6, 2013
Last Update Posted : September 6, 2019
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|Condition or disease|
|Mucopolysaccharidosis Type I Mucopolysaccharidosis Type II Mucopolysaccharidosis Type VI Mucopolysaccharidosis Type IV Mucopolysaccharidosis Type VII|
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.
|Study Type :||Observational|
|Actual Enrollment :||100 participants|
|Official Title:||Longitudinal Studies of Brain Structure and Function in MPS Disorders|
|Actual Study Start Date :||September 2009|
|Actual Primary Completion Date :||August 31, 2019|
|Actual Study Completion Date :||August 31, 2019|
MPS IH, MPS IHS, MPS IS
MPS IH (Hurler syndrome) patients; MPS IHS (Hurler-Scheie syndrome) patients; and MPS IS (Scheie syndrome) patients
Hunter syndrome patients
Morquio syndrome patients who will be considered for enrollment in the study on an individual basis
Maroteaux-Lamy syndrome patients
Sly syndrome patients who will be considered for enrollment in the study on an individual basis
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||6 Years and older (Child, Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- Any MPS I, II, IV, VI or VII child or adult aged 6 years of age or older
Exclusion Criteria for Neuroimaging:
- 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
Exclusion Criteria for Neuropsychological and Neurobehavioral Testing
- Are too functionally impaired for testing
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01870375
|United States, California|
|Oakland Children's Hospital|
|Oakland, California, United States, 94609|
|United States, Minnesota|
|University of Minnesota|
|Minneapolis, Minnesota, United States, 55455|
|United States, New York|
|New York University|
|New York, New York, United States, 10016|
|Hospital for Sick Children|
|Toronto, Ontario, Canada, M5G1X8|
|Principal Investigator:||Chester B. Whitley, M.D., Ph.D.||University of Minnesota|
|Study Director:||Ashley Schneider||University of Minnesota|
|Study Chair:||Paul Harmatz, M.D.||Oakland Children's Hospital|
|Study Chair:||Michal Inbar-Feigenberg, M.D.||Hospital for Sick Children, Toronto, Ontario, CA|
|Study Chair:||Heather Lau, M.D.||New York University|
Publications of Results:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
|Responsible Party:||University of Minnesota|
|Other Study ID Numbers:||
U54NS065768 ( U.S. NIH Grant/Contract )
0905M65804 ( Other Identifier: Univ. of Minnesota IRB Identifier Number )
|First Posted:||June 6, 2013 Key Record Dates|
|Last Update Posted:||September 6, 2019|
|Last Verified:||September 2019|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Yes|
|Plan Description:||The study's data will be input to the Data Management and Coordinating Center ("DMCC"), which is a part of the NIH-funded Rare Diseases Clinical Research Network. Eventually the data will be available to researchers on the database of Genotypes and Phenotypes ("dbGaP"), a part of National Center for Biotechnology Information, U.S. National Library of Medicine.|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II
Mucopolysaccharidosis type VI
Mucopolysaccharidosis type IV
Mucopolysaccharidosis type VII
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Mental Retardation, X-Linked
Nervous System Diseases
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System
Bone Diseases, Developmental