The Sterol and Isoprenoid Diseases Research Consortium (STAIR) is dedicated to the investigation of rare inherited metabolic diseases that are caused by genetic defects in the biochemical pathway leading to the synthesis of sterols, isoprenoid-related molecules and metabolic products of cholesterol, such as bile acids. The objectives of the Consortium are to define the natural history and phenotypic variation of STAIR diseases, identify biomarkers that are useful as surrogate clinical outcome measures, elucidate disease pathogenesis and develop effective therapeutic interventions. The Consortium team consists of 1) clinician scientist leaders in the field, several having first discovered the geneti basis for STAIR diseases, 2) Patient Advocacy Groups to aid clinical study feasibility, recruitment and implementation and 3) the Data Management Coordinating Center (DMCC) to provide statistical support. STAIR Consortium sites are located throughout the US, Canada and the Netherlands. STAIR sites are selected to provide a wide geographic distribution and take advantage of available rare patient populations. We will accomplish STAIR objectives by performing collaborative multicenter clinical research studies and short pilot projects. Longitudinal natural history studies will focus on Sjgren-Larsson syndrome, Hyper-lgD/mevalonate kinase deficiency with periodic fevers, and newly recognized Dolichol Synthesis defects. An ongoing interventional study will examine the effect of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. The behavioral/MRI abnormalities of subjects who are heterozygous carriers for deleterious cholesterol synthesis genes will be investigated. A pilot study will determine the optimal combination therapy for patients with Sitosterolemia. In conjunction with its clinical mission, STAIR will support the training of at least 2 new young investigators to develop the necessary laboratory and clinical skills to become leaders in rare disease research. In summary, the work of the STAIR Consortium over the next 5 years will have major impact on the understanding of the natural history, phenotypic variation and potential therapy of these rare diseases.
The diseases studied by STAIR often go undiagnosed and have puzzling symptoms. Even after diagnosis, they have no effective therapies, leaving patients and families frustrated and disheartened. The STAIR Consortium will uncover highly relevant knowledge that is likely to advance considerably the diagnosis and therapeutic options for patients with these rare diseases.
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| Othman, Rgia A; Myrie, Semone B; Mymin, David et al. (2017) Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe. J Pediatr 188:198-204.e1 |
| Hidalgo, Eveline Teresa; Orillac, Cordelia; Hersh, Andrew et al. (2017) Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome. J Child Neurol 32:100-103 |
| Adang, Laura A; Sherbini, Omar; Ball, Laura et al. (2017) Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab 122:18-32 |
| Othman, Rgia A; Myrie, Semone B; Mymin, David et al. (2017) Effect of ezetimibe on low- and high-density lipoprotein subclasses in sitosterolemia. Atherosclerosis 260:27-33 |
| 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 |
| Rizzo, William B (2016) Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome. Expert Opin Orphan Drugs 4:395-406 |
| 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 |
| Jack, Loren S; Benson, Christy; Sadiq, Mohammad A et al. (2015) Segmentation of Retinal Layers in Sjögren-Larsson Syndrome. Ophthalmology 122:1730-2 |
| Ajagbe, Bridget O; Othman, Rgia A; Myrie, Semone B (2015) Plant Sterols, Stanols, and Sitosterolemia. J AOAC Int 98:716-23 |
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