ABCC6 Deficiency
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:

0-3 years
GACI Type 2
Generalized arterial calcification of infancy
Calcification of Infancy Type 2
The acute infantile phase, GACI, is characterized by narrowing of large and medium arteries. This narrowing is caused by severe and pathological vascular calcification and neointimal proliferation, resulting in dysfunction and potential failure of major organs, such as the heart, lungs and kidneys.
Onset in childhood or later
PXE
Pseudoxanthoma
Elasticum
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 leads to neointimal proliferation, adding to cardiovascular complications.
Disease Prevalence
1:25,000 to 1:50,000
~ 67,000 in Addressable Markets
Complications of ABCC6 Deficiency:
Visual
37% of adult patients aged 50+ experience visual impairment
15% are legally blind due to retina calcification
Skin
Skin changes due to calcium and other mineral deposits in the soft tissues
Arterial Disease
45-53% develop peripheral arterial disease