What is TRANSLAD-Treat?
TRANSLAD-Treat is a centre for therapeutic trials conceptualised for patients with developmental disorders with or without intellectual disability.
The centre specialises, among other things, in setting up therapeutic trials for developmental diseases with mosaic-activating segmental hypertrophy.
The emergence of new therapeutic approaches
With rare diseases, identifying the cause of the pathology in a patient is a crucial stage, and one which has seen immense improvement with the advent of high-throughput technologies. To arrive at a diagnosis, stages of fairly intensive research are sometimes necessary. The identification of a genetic defect may lead down the path of therapy. Advances in preclinical research work in private and public research laboratories play a part in the selection of potentially new or already existing molecules. This leads to clinical trials through which patients benefit from scientific and medical progress. This process is very long and very costly.
Design and Supervision of clinical trials for the development of therapeutic solutions
TRANSLAD-Treat is coordinating 2 international therapeutic trials on developmental disorders with segmental atrophy :
• Sirolimus and segmental atrophy linked to PIK3CA (sponsored by Dijon Bourgogne University Hospital). This phase-II non-randomised proof-of-concept trial on the efficacy of sirolimus in segmental overgrowth linked to PIK3CA was conducted according to the same protocol in 3 centres (Dijon, Cambridge, Bethesda).
• Taselisib and segmental hypertrophy linked to PIK3CA (promoted by Dijon Bourgogne University Hospital). This phase Ib/IIa trial consists in evaluating the tolerance and efficacy of taselisib, a molecule that is a direct inhibitor of PIK3CA, in 30 patients with mosaic-activating segmental hypertrophy, in France and in the United Kingdom.
• TRANSLAD-Treat participated or participated also in various therapeutic trials conducted in France on developmental diseases, with sponsorship from academic institutions or manufacturers: FRAGXIS (sponsored by ROCHE), RAVAST (sponsored by Toulouse University Hospital), MARFAN-SARTAN (sponsored by Paris Hospitals Authority), PERFORMUS (sponsored by Tours University Hospital), HEMANGIOL (sponsored by P Fabre), MAV RAPA - SIROLIMUS (sponsored by Amiens University Hospital), Dowling Meara (sponsored by Nice University Hospital), CONAPE (Tours University Hospital), MO25616 (sponsored by ROCHE), MO28295 MIKIE (sponsored by ROCHE).