The Sterol and Isoprenoid Research (STAIR) Consortium represents a collaborative group of investigators along with their academic medical centers and the National Institutes of Health, patient advocacy groups (PAGs), and clinical research programs. Members of the STAIR Consortium are dedicated to participating in clinical research regarding disorders related to cholesterol and other sterol and isoprenoid metabolism.
The overall objective of the STAIR Consortium is to study a group of diseases bound by common biochemistry, impact on health, and rarity. These diseases are all caused by impaired sterol or isoprenoid metabolism and include Smith-Lemli-Opitz Syndrome (SLOS), Sjögren-Larsson Syndrome (SLS), Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS), Sitosterolemia, and Cerebrotendinous Xanthomatosis (CTX). In five years, the STAIR Consortium will conduct several clinical studies, support a full-scale training program in the field of sterol and isoprenoid diseases, and engage several PAGs in consortium activities.
In summary, the STAIR Consortium 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.
7004: Sjögren-Larsson Syndrome: A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers
7001: Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
7003: B7 Coreceptor Molecules as Clinically-Relevant Surrogate Biomarkers in the Hyper IgD Syndrome (HIDS) form of Mevalonate Kinase Deficiency (MKD)