A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

Table 2 Select ongoing clinical trials of PIK3CA-related disorders using systemic therapies

Therapy	Study name (if applicable)	Clinical trial identifier	Phase or study type	Estimated number of patients	Patient population	Confirmed PIK3CA mutation required
Sirolimus	–	NCT04598204	2/3	30	1 month to 14 years old with Kaposiform Hemangioendotheliomas, Tufted Angioma, or complicated vascular malformation	No
	–	NCT02638389 EudraCT: 2015-001703-32	3	250	3 months to 70 years old with complex vascular anomalies	No
	–	NCT03767660	4	20	BRBNS, VMCM, sporadic multiple VM, or large single VM	No
Miransertib	–	NCT03317366	Expanded access	Not available	2 years and older with overgrowth diseases and/or vascular anomalies	Yes (PIK3CA or AKT)
Miransertib	MOSAIC	NCT03094832	1/2	85	2 years and older with PROS or PS	Yes (PIK3CA or AKT1)
Alpelisib	–	NCT04085653	Managed access	Not available	2 years and older with PROS	Yes
	EPIK-P1	NCT04285723	Chart review	65	2 years and older with PROS	Yes
	EPIK-P2	NCT04589650	2	150	2 years and older with PROS	Yes

BRBNS: Blue Rubber Bleb Nevus Syndrome; PROS: PIK3CA-related Overgrowth Spectrum; PS: Proteus syndrome; VM: venous malformation; VMCM: venous malformation cutaneo-mucosal

ISSN: 1750-1172