Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 deficiency Through the Eyes of Patients and Parents; Burden of Illness Perspectives from Patients and Parents who Speak English, French or German
In partnership with GACI Global, Inozyme Pharma conducted a market research study to learn more from families affected by ENPP1 deficiency (generalized arterial calcification of infancy or GACI and autosomal recessive hypophosphatemic rickets type 2 or ARHR2) about the burden of the disease and the impact of ENPP1 deficiency (GACI and ARHR2) on your daily lives.
The objectives of the study included:
- To improve the understanding of the characterization and burden of disease in ENPP1 deficient, and acute ABCC6 deficient, patients who are still growing and those who are done growing
- To collect information regarding disease burden, in the patients / families own terms
- To build a foundation of evidence to contribute to the dossier, used for many purposes, including reimbursement and regulatory bodies
Ultimately, the information gained from this study will provide additional details on the disease severity and will help pharmaceutical companies design clinical trials to study therapies to potentially treat these diseases.