Specialists found that a genetic mutation causing hemifacial myohyperplasia was the same as the discovery of Cloves syndrome, better known as “Elephant man” syndrome.
Two doctors and researchers from Necker hospital have discovered a treatment to treat children suffering from a rare disease, hemifacial myohyperplasia. The work of two teams made it possible to achieve this medicinal treatment. A study was published this Monday in the Journal of Experimental Medicine, relayed by the APHP, and the results of which France Inter exclusively revealed.
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Five children and adolescents, suffering from this pathology which affects the facial muscles and distorts the figure, are being monitored 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 problem was coming from.s”, explains Roman Khonsari, professor of maxillofacial surgery at Necker hospital.
“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“, he continues. Professor Roman Khonsari made a link with the discovery of Professor Guillaume Canaud, research director of Translational Medicine and Targeted Therapies at Necker hospital.
“I’m really happy to see my face become normal again”
The latter achieved a feat last January by discovering a drug capable of overcoming Cloves syndrome, better known as “Elephant man” syndrome. This genetic disease causes very significant body deformations. During his research, this doctor realized that there was a mutation in the PIK3CA gene, a transformation responsible for muscle hypertrophy. “We said to ourselves that it was perhaps the same mechanism“, says Professor Roman Khonsari.
The two doctors then began working together. They found that the genetic mutation causing hemifacial myohyperplasia was indeed the same as in the discovery on Cloves syndrome. Since his discoveries on mutations in the PIK3CA gene, Doctor Guillaume Canaud has used a molecule developed in oncology: Alpelisib. “We obtained authorization to use the same drug on these five patients with rare facial malformations, continues Roman Khonsari. The patients were “photographed in 3D on a regular basis, every two weeks, then every three weeks“.
This treatment quickly proved effective: the morphology of the children’s faces changed, the facial muscles deflated. “I’m regaining confidence little by little“, confides Marion, one of the five patients. And slips: “I’m really happy to see my face go back to normal“This 17-year-old girl has seen her life turned upside down.”I never got teased too much when I was younger“But after seeing several doctors, she got it.”fed up” of 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.
“We do not know exactly the number of patients affected by this disease.“, specifies Professor Guillaume Canaud. “Maybe a few dozen in France… but one thing is certain, these treatments change their lives.”