A5018851158- Long-Term Effects of COVID-19
- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
- Vascular Malformations and Hemangiomas
- Retinal and Macular Surgery
- COVID-19 Impact on Reproduction
- Neurofibromatosis and Schwannoma Cases
- COVID-19 and healthcare impacts
- Pediatric Pain Management Techniques
- Platelet Disorders and Treatments
- Acute Ischemic Stroke Management
- Adrenal and Paraganglionic Tumors
- Autoimmune Bullous Skin Diseases
- Hormonal Regulation and Hypertension
- Family and Patient Care in Intensive Care Units
- Sexual Differentiation and Disorders
- Genetics and Neurodevelopmental Disorders
- Nutrition, Genetics, and Disease
CHU Dijon Bourgogne
2024
Centre de recherche Translationnelle en Médecine moléculaire
2023
Inserm
2021
University Hospital of Bern
2020
University of Bern
2020
Collaborative Group (United States)
2020
PurposePIK3CA pathogenic variants in the PIK3CA-related overgrowth spectrum (PROS) activate phosphoinositide 3-kinase signaling, providing a rationale for targeted therapy, but no drug has proven efficacy and safety this population. Our aim was to establish six-month tolerability of low-dose taselisib, selective class I PI3K inhibitor, PROS patients.MethodsPatients over 16 years with PIK3CA were included phase IB/IIA multicenter, open-label single-arm trial (six patients at 1 mg/day then 24...
The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function PIK3CA variants. main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS). During its development, in the MCAP subgroup of PROS, there was no specific, standardised evaluation effect on neuro-cognitive...