There are five of them. Five children and adolescents affected by a rare disease, hemifacial myohyperplasia. A pathology which concerns the facial muscles and which distorts the figure. Its management has until now been punctuated by diagnostic errors and inadequate strategies, including aggressive attempts at surgical correction. But two French doctors and researchers have just found a “miracle” remedy to repair these faces.
At the basis of this discovery, there is first of all a first, that of French doctor, Guillaume Canaud. Last January, he discovered the mechanism to overcome Cloves syndrome, better known as “Elephant man syndrome”, this pathology which deforms the body. At the time, he realized that there was a mutation in the PIK3CA gene, a transformation responsible for muscle hypertrophy.
No treatment worked for these patients
“In the department, we followed five patients who all had approximately the same problem.“, says Roman Khonsari, professor of maxillofacial surgery at Necker hospital. “They had half of their face contracted, as if they were having a spasm. And for years, we had no diagnosis for these patients. We have tried treatments, for example botox injections, to relax the muscles. But it didn’t work. And little by little, we tried to understand where their problems came from. We did MRIs of their faces and we realized quite unexpectedly that in fact, it was not a contraction of the facial muscles but muscles that were too large. They had muscular hypertrophy of half of the face“.
“There was Guillaume Canaud’s team which had found a treatment to treat these bodily hypertrophies that affected other organs“, remembers Roman Khonsari. “We said to ourselves perhaps it was the same mechanism.“The two doctors then begin to work together. The genetic mutation is indeed the same as in the discovery on Cloves syndrome. It was therefore necessary to continue for these five patients.
Alpelisib, a miracle molecule?
Since his discoveries on mutations in the PIK3CA gene, Doctor Guillaume Canaud, research director of Translational Medicine and Targeted Therapies at Necker hospital, has used a molecule developed in oncology: Alpelisib. “We obtained authorization to use the same drug on these five patients“, continues Roman Khonsari. “It was then necessary to monitor the progress of these patients. To do this, we used a series of innovative methods to try to see how the shape of the face changed over time. Throughout the treatment, we photographed them in 3D regularly, every two weeks, then every three weeks. And once we had these three-dimensional images of their faces, we could follow the change in shape over time..”
The results are very fast. The facial muscles deflate, the morphology changes. Marion, one of the five patients who took the treatment, saw her life turned upside down. “I never got teased too much when I was younger“, says this teenager on the eve of her 17th birthday. But carried from doctor to doctor, she had some”GET“not knowing what she had. It was only by coming to the Necker hospital that we were able to name her illness and offer her this treatment.”I’m regaining confidence little by little“, confides Marion. “I’m really happy to see my face getting back to normal.“.
“We do not know exactly the number of patients affected by this disease.“, concludes Guillaume Canaud. “Maybe a few dozen in France… but one thing is certain, these treatments change their lives.”
#French #doctors #find #treatment #children #suffering #rare #facial #deformity