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  2. ApoA-1 Milano
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  5. A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.

She continued to ski all afternoon, only going to the hospital the next morning because her fingers were tingling, she told BBC.

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Her sister Maria Elena often damages the top of her mouth because she burns herself with hot drinks, and her daughter Virginia once left her hand in ice for about 20 minutes without feeling pain. In their study, the researchers mapped out the protein-coding genes in each family member's genome and found a mutation in the ZFHX2 gene. University of Siena physiology professor Anna Maria Aloisi, among the study's authors, told Newsweek in a statement: "By identifying this mutation and clarifying that it contributes to the family's pain insensitivity, we have opened up a whole new route to drug discovery for pain relief.

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ApoA-1 Milano

But a log-in is still required for our PDFs. Skip to main content. Ms Letizia Marsili above and five of her family members all show signs of being affected by congenital analgesia - more commonly known as the Marsili pain syndrome, named after the family. Ng Huiwen.

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Apolipoprotein A-1 Milano also ETC , now MDCO is a naturally occurring mutated variant of the apolipoprotein A1 protein found in human HDL , the lipoprotein particle that carries cholesterol from tissues to the liver and is associated with protection against cardiovascular disease. ApoA1 Milano was first identified by Dr. Cesare Sirtori in Milan , who also demonstrated that its presence significantly reduced cardiovascular disease , even though it caused a reduction in HDL levels and an increase in triglyceride levels.

In the s, researchers at the Cedars-Sinai Medical Center showed that injection of a synthetic version of the mutant ApoA-1 into rabbits and mice could reverse vascular plaque buildup.

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Apo A-I Milano has been shown to reduce atherosclerosis in animal models and in a small phase 2 human trial. Recombinant adeno-associated virus 8 AAV8 mediated Apo A-I Milano gene therapy in combination with low- cholesterol diet induces rapid and significant regression of atherosclerosis in mice. The first examination of using the mutant ApoA-1 in humans was conducted through a three way collaboration between the University of Milan and the companies Pharmacia and Upjohn in , focusing on treatment of atherosclerosis.

This was a secondary prevention trial in that those included were individuals who presented to a participating hospital with unstable angina and agreed to consent to a rigorous trial, well beyond usual clinical practice testing and treatment, testing whether this HDL protein variant, which was so effective in animals, would also work in humans.


This trial was initiated by Steven Nissen of the Cleveland Clinic after prompting by Roger Newton of Esperion to examine the effects of the mutant protein using intravascular ultrasound imaging. Due to its potential efficacy, it was speculated that development of synthetic ApoA-1 Milano might be a key factor in eradicating coronary heart disease.

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Esperion Therapeutics , a high tech venture capital start-up, demonstrated efficacy in both animals and humans, spending many millions of dollars over several years to conduct a single human trial which showed impressive and rapid efficacy by IVUS of coronary arteries. However, over the course of the project they produced only enough ApoA-1 Milano to partially treat thirty out of the forty-five people in the randomized trial, giving them one weekly dose each for five weeks.

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Hoping to develop a more effective treatment than their current product Lipitor , Pfizer purchased and internalized Esperion shortly before JAMA published the results of the Apo A-1 Milano trial. Currently, no drugs based on ApoA-1 Milano are commercially available. Rights to ApoA-1 Milano were acquired in by Pfizer. Clinically known as ETC, Pfizer did not move trials forward, probably because the complex protein is very expensive to produce and must be administered intravenously , limiting its application compared to oral medications. Pfizer, after the CETP agent torcetrapib failed in a large human safety trial, decided to exit the cardiovascular market in , though they continue to market Lipitor aggressively.

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.

Esperion, divested by Pfizer in , [13] is back in business and continue to work on HDL mimetic therapies. In May , SemBioSys terminated its operations and announced that Tasly had terminated their agreement.

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On 22 December The Medicines Company [1] announced it had entered into an exclusive worldwide licensing agreement with Pfizer Inc.