Carnation Syndrome: The First Treatment for a Genetic Disease

This is a very strange condition called Carnation Syndrome (see box). Long an orphan, that is, without treatment, she is very close to Proteus syndrome, which suffered from Joseph Merrick, this Briton (1862-1890), presented as a fairground phenomenon, better known as the protagonist of the David Lynch film “The Elephant”. Man” (1980). From now on, other patients around the world (prevalence estimated at less than one in a million, one in 70,000, according to the lab that sells the molecule) will be able to benefit from this treatment, taken by mouth, one tablet. At least those who live across the Atlantic. Because at the moment only the American Health Agency (FDA) has given the green light. marketing of the Vijoice molecule (alpesilib, Novartis Laboratories).

The perseverance of the team of Professor Guillaume Cano

Originally used in breast cancer, this molecule actually has the featurespecifically inhibit the gene responsible for the disease, PIK3CA, so it is used in this condition. We owe a real breakthrough to the French team, because previously there was no curative treatment, the only therapeutic options, in the most serious cases, were mutilation operations. But this commercialization would never have been possible without the persistence and work done in France by the team of Prof. Guillaume Cano (Necker Hospital – Sick Children AP-HP/INEM – Center for Molecular Medicine – Inserm / Institut Imagine / University Paris Cité ).

Children with CLOVE syndrome, on day 0 of treatment and after 180 days. © Dr. Kanaud, AP-HP

The disease was first reported in 2006.

The determination of this medical researcher actually allowed alpelisib to position itself within a few years as the first and only treatment for patients aged 2 years and older suffering from this disease. Inserm has just congratulated his team in a recent press release. The disease, first described in 2006 by a Boston pediatrician, was then studied by various groups before being linked in 2012 to the PIK3CA gene, which often mutates in a certain number of breast and colon cancers.

At the end of 2015, faced with a very ill 29-year-old patient whose prognosis was confirmed and for whom no further treatment could be offered, Dr. Guillaume Canot contacted the Novartis laboratory directly to try an exceptional treatment with this gene inhibitor. This patient “number 1”, whose condition improved dramatically was subsequently published in Nature in 2018. Since then, other patients have been successfully treated all over the world and very quickly, all showed a marked improvement in their general condition and a rapid reduction in the size of the various vascular tumors present. In addition, all experienced an improvement in scoliosis and could, depending on the case, resume physical activity, stop morphine-based treatment, return to school, etc.

Recent Research was carried out even in children aged 9 months. Today, in France, the molecule is only available under an exclusive authorization issued by the National Agency for the Safety of Medicines and Health Products (ANSM), but marketing authorization in Europe remains pending, depending on the results of an ongoing randomized trial. clinical study.

What is clove syndrome?

The Anglo-Saxon abbreviation CLOVE (Congenital Lipomatous Overgrowth, Vascular Malformation, Epidermal Nævi) means a genetic disease that causes accelerated deformation of organs and limbs, bloating of blood vessels, proliferation of adipose tissue, sometimes associated with more or less severe scoliosis. There are so many signs associated with mutations in the PIK3CA gene that can appear in each patient at different times during the fetal life. If the mutation appears early, the clinical manifestations will be very severe and, conversely, less pronounced if they occur late. In sum, this often leads to a long therapeutic wandering, and the disease is not always easily diagnosed in its small forms. Except The National Diagnosis and Treatment Protocol (PNDS) offered to professionals treating these patients has been drawn up by referral and expert centers for these conditions, but has not been approved by the Higher Health Authority (HAS).

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