Information for Professionals

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Information for Professionals:

• Disease Information
• Collaborating with STAIR
• Participating Clinical Centers

Sterol and Isoprenoid Diseases:

Smith-Lemli-Opitz Syndrome

Sjögren-Larsson Syndrome

Niemann-Pick Disease Type C

Mevalonate Kinase Deficiency

• Hyperimmunoglobulinemia D Syndrome (HIDS)
• Mevalonic aciduria

Cerebrotendinous Xanthomatosis

Sitosterolemia

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What is STAIR?

STAIR is a consortium representing 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. To know more about STAIR, go to NIH RePORTER Project Information for STAIR.

Disorders studied by STAIR Smith-Lemli-Opitz Syndrome Sjögren-Larsson Syndrome Niemann-Pick Disease Type C Mevalonate Kinase Deficiency Hyperimmunoglobulinemia D Syndrome Mevalonic aciduria Cerebrotendinous Xanthomatosis Sitosterolemia

How To... Collaborate with STAIR Contact information for our clinical centers Learn about the Contact Registry Open Protocols