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Funding Science: Current Projects

Purpose

To identify abnormalities in brain structure and function over time in treated and untreated MPS patients.

Location

University of Minnesota

Investigators

Dr. Chet Whitley P.I. Dr. Elsa Shapiro P.I.

Updates & Results

To identify abnormalities in brain structure and function over time in treated and untreated MPS patients. To identify distinct neuroimaging and neuropsychological patterns for each MPS disorder.  To develop quantitative measurements of change.   To examine the degree to which risk factors influence brain and Quality of Life outcomes.

For more information:
https://events-support.com/Documents/Shapiro.pdf
http://www.mps2012.eu/upload/siteimages/MPS2012/S04.3.pdf


Purpose

“A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I”

Location

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Investigators

Dr. Patricia Dickson, P.I, Dr. Agnes Chen, M.D.

Updates & Results

This is a 24-month study of the use of laronidase administered into the spinal fluid to treat cognitive decline in mucopolysaccharidosis I (MPS I).

More Information can be found at:
http://clinicaltrials.gov/show/NCT00852358
http://mpsresearchlab.labiomed.org/joomla2/index.php/our-research/14-funding/18-ryan-foundation


Purpose

To conduct clinical studies of pentosan polysulfate (PPS) in patients with mucopolysaccharidoses (MPS).

Location

Icahn School of Medicine at Mount Sinai, New York

Investigators

Calogera M. Simonaro, MPh, PhD, Associate Professor of Genetics and Genomic Sciences Edward H. Schuchman, MPh, PhD, Professor of Genetics and Genomic Sciences

Updates & Results

Dr. Simonaro and Dr. Schuchman have demonstrated in MPS animal models that PPS has the effect of reducing the chronic inflammation associated with substrate accumulation, resulting in improved motility and a slowing of bone/cartilage disease.

http://www.mpssociety.org/wp-content/uploads/2013/05/bene-pharnaChem-GmbH-5.15.13.pdf


Funding Science: Past Projects

Purpose

“Challenges in Treating Musculoskeletal Disease in Mucopolysaccharidosis”

Location

Washington University School of Medicine St. Louis, Missouri

Investigators

Dr. Katherine P. Ponder M.D.

Updates & Results

http://www.mps2012.eu/upload/siteimages/MPS2012/S01.2.pdf


Purpose

“Gene Therapy for Lysosomal Storage Diseases (LSDs) in Large Animal Models”

Location

University of Pennsylvania

Investigators

Dr. Mark Haskins, VMD, PhD

Updates & Results

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340575/


Purpose

“Replacing the Enzyme α-L-Iduronidase at Birth Ameliorates Symptoms in the Brain and Periphery of Dogs with Mucopolysaccharidosis Type I”

Location

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center and Iowa State University

Investigators

Dr. N. Matthew Ellinwood P.I. Iowa State University. Dr. Patricia Dickson P.I. Dr. Agnes Chen P.I. Harbor-UCLA LA Biomedical

Updates & Results

http://www.ag.iastate.edu/news/releases/903/
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3075726/
http://harborpeds.org/news/pattidicksonagneschenMPSpaper2010
http://stm.sciencemag.org/content/2/60/60ra89.abstract


Purpose

“Inadvertent Propagation of Factor VII Deficiency in a Canine Mucopolysaccharidosis Type I Research Breeding Colony”

Location

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Investigators

Patricia Dickson, P.I.

Updates & Results

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779214/


Purpose

“Immune Tolerance Improves the Efficacy of Enzyme Replacement Therapy in Canine Mucopolysaccharidosis I”

Location

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Investigators

Dr. Patricia Dickson P.I.

Updates & Results

http://www.jci.org/articles/view/34676/files/pdf


Purpose

“Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs”

Location

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Investigators

Dr. Patricia Dickson P.I.

Updates & Results

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889197/


Purpose

“Early Versus Late Treatment of Spinal Cord Compression With Long-Term Intrathecal Enzyme Replacement Therapy in Canine Mucopolysaccharidosis Type I.”

Location

Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Investigators

Dr. Patricia Dickson P.I.

Updates & Results

http://www.ncbi.nlm.nih.gov/pubmed/20655780


Purpose

"Gene Expression Alterations in Cortical Neurons and Response to Intrathecal and Intravenous Enzyme Replacement Therapy In the Mucopolysaccharidosis I Dog”

Location

Iowa State University, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Investigators

Dr. N. Matthew Ellinwood P.I. Iowa State University. Dr. Patricia Dickson P.I. Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center

Updates & Results

http://mps2010.eproceedings.com.au/presentations/Friday/HallG/1400%20Dickson.pdf


Purpose

Enzyme Replacement Therapy for Mucoploysaccharidosis (MPS Type I)

Location

Harbor UCLA Research and Education Institute

Investigators

Dr. Emil Kakkis M.D., Ph.D

Updates & Results

"Enzyme Replacement Therapy for Mucoploysaccharidosis (MPS Type I)" - PDF


Funding Recipients

The Ryan Foundation provides funding to a wide range of research institutions and facilities in the pursuit of treatments for rare disease. These include:

UCLA
UNIVERSITY OF MINNESOTA
IOWA STATE UNIVERSITY
UNIVERSITY OF PENNSYLVANIA
WASHINGTON UNIVERSITY / ST. LOUIS
UNIVERSITY OF UTAH