Understanding the biology of ABCC6 is key to changing the treatment paradigm for patients.
ABCC6 Deficiency is caused by mutations in the ABCC6 gene – which reduces systemic adenosine triphosphate (ATP) levels - resulting in low levels of pyrophosphate (PPi) and adenosine in the blood.
Infants with ABCC6 Deficiency are diagnosed with generalized arterial calcification of infancy (GACI) type 2, a condition that resembles GACI type 1, the infant form of ENPP1 Deficiency. In older individuals, ABCC6 Deficiency presents as pseudoxanthoma elasticum (PXE), which is characterized by pathological mineralization in blood vessels and soft tissues clinically affecting the skin, eyes, and vascular system.
There are no approved therapies for ABCC6 Deficiency.
DISRUPTION OF THE PATHWAY:
GACI Type 2
Generalized arterial calcification of infancy
Calcification of Infancy Type 2
Onset in childhood or later
Pseudoxanthoma Elasticum (PXE) is a slow-progressing calcification disorder which affects connective tissue clinically affecting the skin, eyes, and cardiovascular system. Low levels of PPi lead to symptoms accumulating over time such as calcium deposited in the tissue, which can lead to skin lesions, retinal abnormalities, and vascular calcification. In addition, low levels of adenosine lead to intimal proliferation, adding to cardiovascular complications.
1:25,000 to 1:50,000
~ 67,000 in Addressable Markets
Complications of ABCC6 Deficiency:
37% of adult patients aged 50+ experience visual impairment
15% are legally blind due to retina calcification
Skin changes due to calcium and other mineral deposits in the soft tissues
45-53% develop peripheral arterial disease