Extended Data Fig. 11. Effect of BYL719 in patients with PROS.

a, Patients 10–17 before and after 180 days of BYL719 treatment. Patient 10 was a 14-year-old boy with severe asthenia, dyspnea and bilateral overgrowth of lower limbs. After 180 days of treatment asthenia resolved and we observed a marked reduction in hypertrophy of the limbs. Patient 11 was a 14-year-old boy with overgrowth of the right buttock and an intra-abdominal vascular tumour infiltrating the left kidney and spinal nerve. He had chronic haematuria and was permanently confined to bed owing to pain. After 180 days, haematuria resolved and the volume of the intraabdominal vascular malformation was reduced by up to 68%. He had no more pain and became capable of walking. Patient 12 was a 15-year-old boy with multiple large tumours of the trunk and the back. After 180 days of treatment the tumours had reduced in size. Patient 13 was a 16-year-old boy with megalencephaly-capillary malformation (MCAP) and left hemifacial hyperplasia. Treatment led to a reduction in hemifacial hypertrophy and cognitive improvement. Owing to the deformation, this patient was not able to open the left eye. After 180 days of BYL719 treatment, he was able to open the eye (not shown for confidentiality reasons). Patient 14 was a 16-year-old girl with MCAP and a chronic noninfectious palpebral cellulitis who was steroid-dependent. BYL719 treatment led to the healing of the cellulitis and steroids were stopped without a flare. We also observed enhancement of cognitive function and behaviour and improvement of scoliosis. Patient 15 was a 19-year-old man with overgrowth of the left foot and unstable and painful walking. Treatment led to an improvement in the overgrowth as well as an improvement in walking distance. Patient 16 was a 32-year-old man with overgrowth of the right foot and unstable and painful walking. Treatment led to an improvement in the overgrowth as well as an improvement in walking distance. Patient 17 was 50-year-old woman with generalized hypertrophy, and severe and diffuse pain with opioid dependency. She was permanently confined to bed. After six months of treatment we observed an improvement in tiredness, and resolution of pain, and we were able to stop opioids within two weeks. The patient became able to walk again. b, PIK3CA mutations identified in the 17 patients. c, For each patient we determined a target lesion (see Supplementary Table 2) that was clinically measured at each time point. The graph represents the changes (per cent) during the 180 days of treatment with BYL719. Each line is a single patient. d, Mean body weight changes (per cent) during the 180 days of treatment with BYL719 (n = 13 patients, patients 1–13), excluding the four obese patients (patients 14, 15, 16 and 17). e, Mean body weight loss in the four obese patients during the 180 days of treatment with BYL719. All data are shown as mean ± s.e.m.