This application describes the development of a unique Consortium (the Sterol and Isoprenoid Diseases Research Consortium or STAIR) to study a group of diseases bound by common biochemistry, impact on health, and rarity: Cerebrotendinous Xanthomatosis (CTX), Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS), Niemann-Pick Disease Type C (NPC), Sitosterolemia, Sjogren-Larsson Syndrome (SLS), and Smith-Lemli-Opitz Syndrome (SLOS). STAIR activities will be performed by a team of investigators chosen for their clinical research strengths and resources, a long history of collaboration, a diverse geographic distribution to allow maximal access by potential research subjects, their individual motivation to improve the health of patients, and the commitment of their institution to support the Consortium. In five years, STAIR will conduct two major clinical studies (a longitudinal natural history study of NPC and a therapeutic trial to evaluate the efficacy of antioxidant therapy in SLOS), and six pilot research studies involving patients with either SLS, SLOS, CTX, HIDS or Sitosterolemia. Together with the Intramural NIH program, the Consortium will support a full-scale training program in the field of sterol and isoprenoid diseases and share its resources and data with the NIH RDCRN. Participating institutions include Oregon Health and Science University (OHSU), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Cincinnati Children's Hospital Medical Center, University of Nebraska Medical Center, and University of Manitoba (Canada). OHSU will be the administrative home of the Consortium. Patient support organizations (Smith Lemli Opitz/RSH Foundation, Hide and Seek Foundation, Ara Parseghian Medical Research Foundation, Dana's Angels Research Trust, Foundation for Ichthyosis and Related Skin Types, and United Leukodystrophy Foundation) will participate in Consortium activities. In summary, STAIR will foster multidisciplinary clinical research, promote training and education and support projects to explore promising leads in the understanding, diagnostics, and treatment of sterol and isoprenoid diseases.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
5U54HD061939-05
Application #
8531306
Study Section
Special Emphasis Panel (ZRG1-HOP-Y (50))
Program Officer
Krotoski, Danuta
Project Start
2009-09-29
Project End
2014-07-31
Budget Start
2013-08-01
Budget End
2014-07-31
Support Year
5
Fiscal Year
2013
Total Cost
$517,545
Indirect Cost
$35,085
Name
Oregon Health and Science University
Department
Pediatrics
Type
Schools of Medicine
DUNS #
096997515
City
Portland
State
OR
Country
United States
Zip Code
97239
Freeman, Kurt A; Olufs, Erin; Tudor, Megan et al. (2016) A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. J Dev Behav Pediatr 37:424-30
Rizzo, William B (2016) Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome. Expert Opin Orphan Drugs 4:395-406
Merkel, Peter A; Manion, Michele; Gopal-Srivastava, Rashmi et al. (2016) The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis 11:66
Othman, Rgia A; Myrie, Semone B; Mymin, David et al. (2015) Ezetimibe reduces plant sterol accumulation and favorably increases platelet count in sitosterolemia. J Pediatr 166:125-31
Ajagbe, Bridget O; Othman, Rgia A; Myrie, Semone B (2015) Plant Sterols, Stanols, and Sitosterolemia. J AOAC Int 98:716-23
Jack, Loren S; Benson, Christy; Sadiq, Mohammad A et al. (2015) Segmentation of Retinal Layers in Sjögren-Larsson Syndrome. Ophthalmology 122:1730-2
Merkens, Mark J; Sinden, Nancy L; Brown, Christine D et al. (2014) Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. J Pediatr 165:836-41.e1
DeBarber, Andrea E; Luo, Jenny; Giugliani, Roberto et al. (2014) A useful multi-analyte blood test for cerebrotendinous xanthomatosis. Clin Biochem 47:860-3
DeBarber, Andrea E; Luo, Jenny; Star-Weinstock, Michal et al. (2014) A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. J Lipid Res 55:146-54
He, Miao; Smith, Laurie D; Chang, Richard et al. (2014) The role of sterol-C4-methyl oxidase in epidermal biology. Biochim Biophys Acta 1841:331-5

Showing the most recent 10 out of 22 publications