a treatment approved by the American health authorities

THE ESSENTIAL

  • Cloves syndrome was first observed in 2006.
  • A disease is said to be orphan when there is no effective treatment to cure it.
  • Between 1,000 and 1,200 people would be affected in France.

Cloves syndrome is no longer an orphan disease: a treatment is now available. On Wednesday April 6, the Food and Drug Administration, the American health regulatory authority, approved the use of alpelisib as a drug against this pathology, which the general public discovered with the film Elephant Male (1980). The molecule was identified by a French researcher, Guillaume Canaud and his team.

What is Cloves Syndrome?

Cloves is the acronym for Congenital lipomatous proliferation, vascular malformation, epidermal nevi. The disease is characterized by the appearance of vascular growths, deformities and swellings. “In the most serious forms, there are growths of fatty tissue, vascular malformations, scoliosis, manifestations affecting the skeleton such as a major enlargement of the bones or even deformations of organs such as the brain or the kidneys.specifies Inserm in a press release. According to various works, the pathology is linked to mutations of a gene, PIK3CA. Until today, there was no curative treatment. Doctors could only prescribe drugs that acted against the symptoms of the disease. People with severe forms may have to undergo embolizations, surgical interventions aimed at blocking certain blood vessels responsible for lesions, or mutilating surgeries to preserve healthy organs or limbs.

Long-term works

At the end of 2015, Dr Guillaume Canaud received a 29-year-old patient, suffering from very advanced Cloves syndrome, “with a committed prognosis for which no further surgery or radiological embolization could be proposed”specifies the APHP in a press release. The doctor contacted the Novartis laboratory which was then working on the development in oncology of a specific inhibitor of the PIK3CA gene called BYL719. The doctor obtained authorization from the ANSM to carry out a trial with this drug. “Very quickly, a positive effect was observed on all symptomsis it stated in the press release. In particular, a significant reduction in the vascular masses and growths from which the patient was suffering was observed, as well as a major improvement in his quality of life. Eighteen months later, this first patient presented only one side effect, hyperglycaemia, well controlled by a simple diet.“These results prompted the scientist to continue his research. In a study of 57 patients, including 44 children, the drug showed its effectiveness: “patients treated with this molecule experienced a reduction in target lesion volume and a significant improvement in symptoms and PROS-related manifestations (the name of the genetic mutation editor’s note).“This conclusive assessment allowed the authorization of this drug across the Atlantic.”I am proud of this exceptional achievement which will offer a possibility of drug treatment for patients with overgrowth syndrome or vascular abnormalities linked to a PI3KCA mutation.“, welcomes Professor Guillaume Canaud. “This is a major step forward in improving patient care.” A randomized clinical study is still underway in Europe, and we will have to wait for its results to know if the drug can be prescribed on the Old Continent.

Leave a Comment