Rare Daily Staff
Inozyme Pharma has introduced a no-cost, third-party genetic testing program designed to improve detection and understanding of two rare calcification disorders.
Offered in partnership with PreventionGenetics, the Inozyme program tests eligible participants for mutations in the ENPP1 and ABCC6 genes. Both genes are implicated in rare, severe calcification disorders: ENPP1 deficiency and ABCC6 deficiency.
Inozyme said it created the genetic testing program to increase disease awareness, reduce barriers to genetic testing, and help people and their healthcare providers make more informed decisions about these rare conditions. More information about the testing program can be found on the Inozyme website.
“The genetic testing program introduced today will help to enhance our understanding of ENPP1 deficiency and ABCC6 deficiency, with the ultimate goal of improving diagnosis and developing effective treatments,” said Axel Bolte, co-founder and CEO of Inozyme. “We urge people with a family history of calcification disorders and their physicians to seek more information about the genetic testing program. Over time and through ongoing research, we hope to alleviate the life-limiting and life-threatening impact of these severe diseases.”
The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase 1, which regulates inorganic pyrophosphate levels in plasma. The enzyme is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. ENPP1 deficiency manifests as either generalized arterial calcification of infancy type 1 or autosomal recessive hypophosphatemic rickets type 2.
Generalized arterial calcification of infancy type 1 is a devastating and often fatal disease affecting infants and is characterized by calcification and narrowing of large and medium-sized arteries, resulting in heart failure and death in about half of patients within the first six months of life. Autosomal recessive hypophosphatemic rickets type 2. usually manifests in the post-infancy stage. It causes rickets, weakened bones, repeated bone fractures, skeletal deformities, short stature, muscle weakness, fatigue and bone pain.
Defects in the ABCC6 gene lead to soft tissue calcification, and in rare circumstances cause generalized arterial calcification of infancy type 2 in infants, which is also characterized by calcification and narrowing of large and medium-sized arteries, resulting in heart failure and death in about half of patients within the first six months of life.
“The Inozyme genetic testing program will provide an early diagnostic testing measure for ENPP1 and ABCC6 deficiencies, which are indicators of serious calcification disorders that sometimes take years to diagnose accurately,” said James Weber, president of PreventionGenetics. “Access to reliable genetic testing may help shorten the diagnostic journey for patients, potentially lifting a significant emotional burden and paving the way for more timely and effective intervention.”
June 13, 2018
Photo: Axel Bolte, co-founder and CEO of Inozyme