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Title: Longitudinal Studies of Brain Structure and Function in MPS Disorders      
citations:
22867884
22974573
24582005
description:
Mucopolysaccharidosis (MPS) types I, II, IV, VI and VII, are inherited diseases that result from the bodies inability to break down large sugar molecules that are by-products of metabolism. MPS affects most organs of the body and causes abnormalities in the liver, spleen, bones, and brain. We are studying the central nervous system (primarily the brain) so we can better understand the nature of the problems individuals with MPS I, II, IV, VI and VII have so we can find ways of better treating these problems. We would like to find out about the changes in the brain of individuals with MPS I, II, IV, VI and VII using data from MRI and neuropsychological tests. This is a longitudinal study so patients who enroll will need to be seen 3 times over 5 years. The longitudinal nature of the study allows us to make conclusions about how changes in some structures of the brain and changes in cognitive ability are related. The research objectives are: To identify abnormalities of brain (and central nervous system) structure and function in patients with MPS I, II, IV, VI and VII, regardless of how they are being treated or have been treated in the past; and to track disease progression over time. To examine the degree to which independent variables (e.g., age at first treatment, severity of disease, types of medical abnormalities, mutation, medical events, and sensory abnormalities) have an impact on both functional and structural outcomes as well as on quality-of-life. To identify, through longitudinal study, those measures that most accurately reflect the current disease state. This is a longitudinal study of 75-100 individuals with either MPS I, II, IV, VI and VII. Those participating in the study will be evaluated 3 times over 5 years. The primary site for this study is the University of Minnesota but there are an additional 6 centers in the United States and Canada that are also participating and will provide data for analysis. You will need to be able to travel to Minnesota or one of the participating centers in order to be a part of this study.
Identifier:
phs001328.v1.p1
accesstypes:
download
enclave
landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001328.v1.p1
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Mucopolysaccharidoses
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
affiliations:
University of Minnesota, Minneapolis, MN, USA
name:
Chester Whitley, PhD, MD
roles:
Study Chair
affiliations:
UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA
name:
Paul Harmatz, MD
roles:
Participating Site Principal Investigators
affiliations:
Emory University School of Medicine, Decatur, GA, USA
name:
Sumar Shankar, MD
roles:
Participating Site Principal Investigators
affiliations:
New York University School of Medicine, New York, NY, USA
name:
Heather Lau, MD
roles:
Participating Site Principal Investigators
affiliations:
Hospital for Sick Children, Toronto, Canada
name:
Ronald Cohn, MD
roles:
Participating Site Principal Investigators
affiliations:
UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA
name:
Morton Cowan, MD
roles:
Participating Site Principal Investigators
affiliations:
LA BioMed at Harbor-UCLA Medical Center, Torrance, CA, USA
name:
Lynda Polgreen, MD, MS
roles:
Participating Site Principal Investigators
affiliations:
National Institutes of Health, Bethesda, MD, USA
name:
U54-NS065768-06
roles:
Current Funding Source
performedBy:
TitleNameInstitute Participating Site Principal InvestigatorsPaul Harmatz, MDUCSF Benioff Children's Hospital Oakland, Oakland, CA, USA Participating Site Principal InvestigatorsSumar Shankar, MDEmory University School of Medicine, Decatur, GA, USA Participating Site Principal InvestigatorsHeather Lau, MDNew York University School of Medicine, New York, NY, USA Participating Site Principal InvestigatorsRonald Cohn, MDHospital for Sick Children, Toronto, Canada Participating Site Principal InvestigatorsMorton Cowan, MDUCSF Benioff Children's Hospital Oakland, Oakland, CA, USA
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs001328.v1.p1
Identifier:
phs001328.v1.p1_policy
name:
Data Use Certificate
Identifier:
1
name:
General Research Use (IRB, PUB)
schedulesActivity:
Study Activated September 19, 2010 First Accrual December 17, 2010
alternateIdentifiers:
yes
selectionCriteria:

Inclusion criteria:

  • Any MPS I, II, IV, VI or VII child or adult ages 6-25

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

types:
Longitudinal
dateReleased:
03-08-2017
version:
phs001328.v1.p1
dateModified:
05-16-2017
abbreviation:
NCATS
name:
NCATS
ID:
0
name:
dbGaP

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