Learn About Neonatal Onset Multisystem Inflammatory Disease
Cryopyrin-associated periodic syndromes (CAPS) are a group of conditions that have overlapping signs and symptoms and the same genetic cause. The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. FCAS1 is the least severe form of CAPS, MWS is intermediate in severity, and NOMID is the most severe form.
CAPS are caused by variants (also known as mutations) in the NLRP3 gene. The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin is a member of a family of proteins called intracellular "NOD-like" receptor (NLR) proteins. These proteins are involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight foreign invaders and help repair damaged tissues. After this has been accomplished, the body stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues. Cryopyrin is involved in the assembly of a molecular complex called an inflammasome, which helps trigger the inflammatory process.
CAPS are rare, with an estimated prevalence of 2 to 5 per million individuals, collectively. However, it is thought that the conditions are underdiagnosed since the features of CAPS are similar to other more common conditions.
CAPS are usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People with the condition are born with one altered copy of the NLRP3 gene in each cell. In most cases, the altered gene is inherited from an affected parent. The remaining cases are a result of new variants in the NLRP3 gene and occur in people with no history of the disorder in their family.
CHU Caen
Eric Hachulla practices in Caen, France. Mr. Hachulla is rated as an Elite expert by MediFind in the treatment of Neonatal Onset Multisystem Inflammatory Disease. His top areas of expertise are Systemic Sclerosis (SSc), Scleroderma, Sjogren Syndrome, Kidney Transplant, and Lung Transplant.
Jasmin Deschner-Kuemmerle practices in Tuebingen, Germany. Ms. Deschner-Kuemmerle is rated as an Elite expert by MediFind in the treatment of Neonatal Onset Multisystem Inflammatory Disease. Her top areas of expertise are Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, and Mevalonate Kinase Deficiency.
Isabelle Paut-Kone practices in Paris, France. Ms. Paut-Kone is rated as an Elite expert by MediFind in the treatment of Neonatal Onset Multisystem Inflammatory Disease. Her top areas of expertise are Mevalonate Kinase Deficiency, Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, and Vitrectomy.
Summary: This study will evaluate the efficacy, safety, tolerability and pharmacokinetics of JTE-162 administered once daily for 2 weeks in subjects with cryopyrin-associated periodic syndrome (CAPS)
Background: Some diseases cause chronic inflammation with intermittent flares in the body. These are called autoinflammatory diseases. They can cause fevers, rashes, ulcers, and other problems. Researchers want to learn more about the causes and effects of these diseases. They hope this will improve how the disease is managed in the future.
Published Date: August 17, 2021
Published By: National Institutes of Health