Axel Bolte, MSc, MBA, Co-Founder, President, and Chief Executive Officer, Inozyme Pharmaceuticals, gives advice to parents of a baby diagnosed with ENPP1 deficiency.
The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1), which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. Individuals who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy (GACI), which is characterized by extensive vascular calcification and neointimal proliferation, resulting in myocardial infarction, stroke, or cardiac or multiorgan failure. Approximately 45% to 50% of infants with ENPP1 deficiency die within six months of birth. Children and adults with ENPP1 deficiency typically experience rickets and osteomalacia, a condition also known as autosomal-recessive hypophosphatemic rickets type 2 (ARHR2). These patients can also exhibit a range of signs and symptoms that include hearing loss, arterial calcification, and cardiac and/or neurological involvement. There are currently no approved therapies for ENPP1 deficiency. Recently, however, Inozyme announced positive preliminary biomarker, safety, and pharmacokinetic data from the first 3 patients treated in the phase 1 portion of its ongoing phase 1/2 clinical trial of INZ-701 in adult patients with ENPP1 deficiency
Mr. Bolte first advises individuals to talk to a doctor, an endocrinologist or pediatric endocrinologist if they are able. If the physician thinks the individual might have ENPP1 deficiency or the related disorder, ABCC6 deficiency, Inozyme Pharmaceuticals, in collaboration with PreventionGenetics, has a no-cost genetic testing program for ENPP1 and ABCC6 deficiencies that is recommended. Mr. Bolte then suggests utilizing a number of patient advocacy groups such as GACI Global or PXE International, which supports patients with pseudoxanthoma elasticum, another name for ABCC6 deficiency.
To learn more about ENPP1 deficiency and other endocrine disorders, visit https://checkrare.com/diseases/endocrine-disorders/