ENPP1 and ABCC6 deficiencies are genetic disorders that disrupt mineral metabolism, leading to systemic calcification issues. ENPP1 deficiency, caused by mutations in the ENPP1 gene, results in conditions like generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2), characterized by abnormal calcium and phosphate regulation, leading to vascular calcification and bone abnormalities. ABCC6 deficiency, resulting from mutations in the ABCC6 gene, causes pseudoxanthoma elasticum (PXE), a condition where elastic fibers in the skin, eyes, and cardiovascular system undergo progressive calcification and fragmentation.
Genetic testing plays a pivotal role in diagnosing ENPP1 and ABCC6 deficiencies by identifying specific mutations in the ENPP1 and ABCC6 genes, respectively, which confirm the presence of these genetic disorders. Early and accurate genetic diagnosis facilitates appropriate clinical management and monitoring of associated complications, such as vascular calcification in ENPP1 deficiency and systemic calcification in ABCC6 deficiency. Additionally, genetic testing provides essential information for genetic counseling, helping affected individuals and their families understand inheritance patterns, assess risks for future offspring, and make informed healthcare decisions.
What is the Program?
No-cost genetic testing is being offered through a program sponsored by Inozyme Pharma. The genetic testing is for Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) Deficiency and ATP binding cassette subfamily C member 6 (ABCC6) Deficiency. ENPP1 Deficiency causes Generalized Arterial Calcification of Infancy (GACI) Type 1 in infants, and Autosomal Recessive Hypophosphatemic Rickets, type 2 (ARHR2) post infancy. ABCC6 Deficiency causes GACI type 2 in infancy.
Program Information
This program is dedicated to diagnosing rare calcification disorders, which involve abnormal calcium deposits in soft tissues. It aims to provide comprehensive genetic testing to identify mutations that may lead to such disorders, helping in accurate diagnosis and management.
Eligibility includes individuals who exhibit symptoms of rare calcification disorders or have a family history suggesting a predisposition to such conditions. A healthcare provider must refer patients for testing under this program.
The program typically includes detailed genetic analysis, such as gene sequencing and deletion/duplication tests, to identify mutations associated with rare calcification disorders. The specific tests may vary based on the suspected disorder and individual patient needs.
Healthcare providers can apply by submitting a detailed patient history and clinical information that supports the suspicion of a calcification disorder. The application should include consent forms and possibly previous medical test results.
Participants benefit from gaining a clear genetic diagnosis, which can significantly influence treatment decisions and management strategies. The testing can also provide insights into the prognosis and help in family planning and genetic counseling.
Results are typically available within a few weeks after the laboratory receives the sample. The exact timeline can vary based on the complexity of the tests required and the specific condition being investigated.
Inozyme Pharma, Inc. is a clinical-stage rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases impacting the vasculature, soft tissue, and skeleton. Inozyme is developing INZ-701, an enzyme replacement therapy, to address pathologic mineralization and intimal proliferation, which can drive morbidity and mortality in these severe diseases. INZ-701 is currently in clinical development for the treatment of ENPP1 Deficiency, ABCC6 Deficiency, and calciphylaxis.
For more information, please visit https://www.inozyme.com/ or follow Inozyme on LinkedIn, X, and Facebook.
