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Learn About Familial Cold Autoinflammatory Syndrome

What is the definition of Familial Cold Autoinflammatory Syndrome?
Familial cold autoinflammatory syndrome is a type of periodic fever syndrome. Symptoms may include include an itchy or burning rash; fever; and joint pain which are triggered by exposure to cold temperatures. It is inherited in an autosomal dominant manner and can be caused by genetic changes in the NLRP3 or NLRP12 genes.
What are the alternative names for Familial Cold Autoinflammatory Syndrome?
  • Familial cold autoinflammatory syndrome
  • FCAS
  • Familial cold urticaria
  • Familial polymorphous cold eruption
Who are the top Familial Cold Autoinflammatory Syndrome Local Doctors?
Eric Hachulla
Elite in Familial Cold Autoinflammatory Syndrome
Elite in Familial Cold Autoinflammatory Syndrome

CHU Caen

Caen, FR 

Eric Hachulla practices in Caen, France. Mr. Hachulla is rated as an Elite expert by MediFind in the treatment of Familial Cold Autoinflammatory Syndrome. His top areas of expertise are Systemic Sclerosis (SSc), Scleroderma, Sjogren Syndrome, Kidney Transplant, and Lung Transplant.

Elite in Familial Cold Autoinflammatory Syndrome
Elite in Familial Cold Autoinflammatory Syndrome
Hoppe Seyler Str. 9, 
Tuebingen, BW, DE 

Jasmin Deschner-Kuemmerle practices in Tuebingen, Germany. Ms. Deschner-Kuemmerle is rated as an Elite expert by MediFind in the treatment of Familial Cold Autoinflammatory Syndrome. Her top areas of expertise are Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, and Mevalonate Kinase Deficiency.

 
 
 
 
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Elite in Familial Cold Autoinflammatory Syndrome
Elite in Familial Cold Autoinflammatory Syndrome
Paris, FR 

Isabelle Paut-Kone practices in Paris, France. Ms. Paut-Kone is rated as an Elite expert by MediFind in the treatment of Familial Cold Autoinflammatory Syndrome. Her top areas of expertise are Mevalonate Kinase Deficiency, Neonatal Onset Multisystem Inflammatory Disease, Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, and Vitrectomy.

What are the latest Familial Cold Autoinflammatory Syndrome Clinical Trials?
A Phase 1b, Open-label, Single-arm Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of JTE-162 in Subjects With Cryopyrin-Associated Periodic Syndrome (CAPS)

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)

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Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)

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.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center