Rapamune 1 mg/mL oral solution

Microdystrophin (GNT0004) Gene Therapy Clinical Trial in Duchenne Muscular Dystrophy: A phase I/II/III study with a dose determination part followed by an efficacy and safety evaluation, quadruple blind placebo-controlled part and then by a long term safety follow up part, in ambulant boys

A Phase I/II, open-label, dose escalation study to evaluate the safety of 2 doses of intravenous ATA-200, an adeno-associated viral vector carrying the human gamma-sarcoglycan gene, in patients with gamma-sarcoglycanopathy (limb-girdle muscular dystrophy LGMDR5, formerly LGMD2C).

A Phase 1/2, Open-Label, Dose Finding Study to Investigate the Safety, Tolerability, and Efficacy of ALXN2350 Gene Therapy in Adult Participants with Symptomatic BAG3 Mutation-Associated Dilated Cardiomyopathy

Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT)

TOPical sirolimus in linGUal microkystic lymphatic malformation

RAPAMALYMPH - Evaluation of the Efficacy of Rapamycin in the Treatment of Cervico-facial Lymphatic Malformations of Poor Prognosis

Multicenter, open label study using molecularly determined targeted therapies in children 3-18 years of age with DIPG (diffuse intrinsic pontine glioma- DIPG)- DIPGen

Randomized, placebo-controlled, double-blind and double-dummy clinical trial comparing the safety, tolerability, and efficacy of vigabatrin and rapamycin in a preventive treatment of infants with Tuberous Sclerosis Complex

Open, randomized, IInd phase clinical study evaluating the safety and efficacy of rapamycin in the treatment of drug-resistant epilepsy in children with rare and ultra rare diseases of the central nervous system associated with the activation of the mTOR pathway : BraimTOR-NEURO

An open randomized phase II clinical trial evaluating the safety and efficacy of rapamycin in the treatment of gliomas high-grade malignant gliomas in children as part of the establishment management of rare and ultra rare diseases of the central nervous system associated with mTOR pathway activation: BraimTOR- ONKO

A single arm single center exploratory observational phase II study, aimed to detect long term changes in volume of port-wine macrocheilia and color of port-wine stain in patients undergoing surgery and laser therapy during sirolimus treatment. Quality of life and efficacy and safety of sirolimus will be assessed.

Multicenter, randomized, double-blind, placebo controlled study to assess the efficacy and safety of RApamycin in drug Resistant Epilepsy associated with TSC