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wonder medicine BYL719 Alpelisib for cloves and overgrowth syndromes

Unexpected good news: a new medicine shows good results

“A medical first for overgrowth syndromes caused by the PIK3CA gene: a remarkable improvement was found in the health of CLOVES patients using a new cancer drug”. Only one year after getting diagnosed, this is what popped up in my newsfeed one week ago.

Last week Thursday was a special day for me and all the people (and their families) that suffer from an overgrowth syndrome caused by the PIK3CA gene. In short, the PIK3CA gene regulates cell proliferation and growth. When overly activated, it causes excessive growth of body parts.

In my case it causes a benign tumor in my face (condition is called Facial Infiltrating Lipomatosis), but there are also people who have other body parts effected (condition called CLOVES). Some of them have life-threatening problems such as scoliosis and deformity of organs like the brain and kidneys. They have to live with chronic pain and have major repercussions on their quality of life and social life.

PIK3CA gene in cancers

The same PIK3CA gene also mutates in several cancers, particularly breast and colon cancers. It’s a therapeutic target for the pharmaceutical industry. For example, the Novartis laboratory is working on a specific inhibitor of the PIK3CA gene called BYL719 / Alpelisib. This medication is currently undergoing therapeutic oncology trials.

Cancer drug tackling overgrowth syndromes

At the end of 2015 a French specialist of the PIK3CA pathway treated a 29-year-old patient with a life-threatening form of CLOVES syndrome. The French doctor approached the Novartis laboratory and got permission from the ANSM to use the experimental treatment with BYL719 / Alpelisib. Very quickly a positive effect was observed: the overgrowth decreased and the patient’s quality of life improved. And very important: after 18 months there were no side effects.

Testing on mice

In order to better understand this disease and action of the medication, the doctor and his team created the first mouse (murine) model that recapitulates all the lsions observed in patients with CLOVES syndrome. Again a major and rapid improvement in the health of the mice was observed.

Another case with spectacular outcomes

When another 9-year-old girl was suffering from a life-threatening form of CLOVES, they again got permission to use the experimental treatment. For the third time the drug had a spectacular effect on all symptoms without side effects.

Before and after BYL719 : Alpelisib medicine

© Dr Canaud, AP-HP

Permission to test this drug on more patients

On basis of these results, the doctor and his group were authorized by the ANSM to administer the drug to 17 additional patients. 14 children and 3 adults with life-threatening complications got the medicine. Very quickly after treatment, they all observed a spectacular improvement in health, like rapid reduction in the size of tumours and abnormal limbs. They even observed an improvement in scoliosis in all patients. The patients were able to stop morphine-based treatments, could go back to school and scheduled surgeries got cancelled.

No side effects

After 18 months no side effects were observed. Minor side effects, such as mouth ulcers, were observed in three patients. One obese patient experienced hyperglycaemia, which was well controlled by diet. Patients need to stay on the drug forever, hopefully this is something they can improve within the next few years.

Hope for the future

Of course we’re still not there yet, but at least it’s giving us hope for the future. The treatment needs to be tested more and the side effects on long term need to be observed. So far it has only been used for CLOVES, so it’s not sure yet what this medicine will do to people with my condition (FIL).

It’s such relief knowing there is a drug available for those of us who really need it and cannot wait any longer. I’m looking forward to the developments of these inhibitors and hope an improved version will be available in the near future.

Read more:

> A French article about this trial including before and after pictures. Use chrome to automatically translate the page to English.

> Article in Nature: “A medical first: CLOVES Syndrome and overgrowth syndromes: remarkable improvement in the health of 19 paediatric and adult patients using a new therapeutic strategy”

I am Wilma (23) and I was born with a rare tumor in my cheek. For more than 22 years I did not have a diagnosis. Thanks to my website visitors I ended up at the Hecovan working group where I did a second opinion in 2017. Here I got diagnosed with Facial Infiltrating Lipomatosis (FIL); an ultra rare condition with only a few people affected worldwide. On my blog I share updates and take you with me on my travel adventures around the world to meet my 'extended family' with the same condition.

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