Clove Syndrome: First Aid for a Genetic Disease

This is a very strange condition, called Cloves syndrome.see box). Long orphaned, i.e. without treatment, he is very close to the Proteus syndrome afflicted by Joseph Merrick, presented as a fair ground phenomenon by The Briton (1862–1890), described by David Lynch as the film’s main character. Known as “Elephant Man” (1980). From now on, other patients worldwide (estimated to be less than one case in a million, one person in 70,000 according to the laboratory that markets the molecule) will therefore be able to benefit from this treatment, the oral intake of a single pill. At least those living across the Atlantic. Because at present, only the US Health Agency (FDA) has given the green signal. Marketing of the Molecule, Vijois (Alpecilib, Novartis Laboratories).

Pro. The tenacity of Guillaume Kanaud’s team

Initially used in breast cancer, this molecule is actually characterizedSpecifically PIK3CA inhibits the gene responsible for the disease, so it is used in this situation. A real breakthrough that we attribute to a French team, because previously, there was no curative treatment available, only therapeutic options that included, in the most severe cases, deforming surgery. But this commercialization would never have been possible without the tenacity and work done in France by the team of Professor Guillaume Canaud (Neckar Hospital – Epi-HP / INEM sick children – Center for Molecular Medicine – Inserm / Institut Imagine / Université Paris City) . ,

Children with Clove syndrome, “zero” days after treatment and 180 days later. © Dr. Conaud, AP-HP

This disease was first written about in 2006.

This doctor-researcher’s determination has indeed enabled Alpelisib to establish itself over a few years as the first and only treatment for patients aged 2 years and above affected by this condition. His team has been congratulated by Inserm in a recent press release. First described in 2006 by a Boston pediatrician, the disease was then studied by various teams before a certain number of breast and colon cancers, a frequently mutated gene, PIK3CA, was identified in 2012. was done in

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In late 2015, faced with a very advanced 29-year-old patient who had been diagnosed with the disease and for whom no further treatment could be found, Dr. Guillaume Canaud contacted the Novartis laboratory directly to ask for this gene inhibitor. treatment can be attempted. , This Patient “Number 1” Whose Condition Had Improved Dramatically was later published in the magazine Nature in 2018. Since then other patients have been successfully treated around the world and very quickly, All showed a significant 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 their scoliosis and, on a case by case basis, were able to resume physical activity, discontinue morphine-based treatment, return to school, etc.

recent study It was even conducted in babies as young as 9 months old. Today in France, access to the molecule is made only within the framework of an extraordinary authorization issued by the National Agency for the Safety of Medicines and Health Products (ANSM), but pending European marketing authorization, subject to ongoing randomized results. Clinical studies.

What is Clove Syndrome?

The Anglo-Saxon acronym Clove (congenital lipomatous hypertrophy, vascular malformation, epidermal novi) is a genetic disease associated with accelerated deformity of limbs and limbs, vascular swelling, increased fatty tissue, sometimes with scoliosis. At least serious. So many signs associated with mutations of a gene called PIK3CA that may appear at different times during fetal life according to each patient. If the mutation appears early, the clinical manifestations will be very severe and conversely less marked if they occur late. Overall, it is often the result of prolonged clinical wandering, the disease is not always easy to diagnose in its younger forms. moreover The National Diagnosis and Care Protocol (PNDS) given to professionals involved in the care of these patients was prepared by the Centers of Reference and Competence for these conditions, but has not been validated by the Higher Authority for Health (HAS).

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