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
ENPP1 deficiency is a spectrum of disease which manifests as GACI type 1 in infants, ARHR2 in young adults, and Osteomalacia in older adults. ABCC6 deficiency is a disease that can lead to an acute form called GACI type 2 in infants and Pseudoxanthoma Elasticum (PXE) in older patients. The purpose of the study is to characterize the burden of disease and understand the systemic progression of disease for the rare genetic diseases of both ENPP1 deficiency and ABCC6 deficiency from the perspective of a patient and/or parent. This study is designed to contribute to the overall understanding of these rare abnormal mineralization disorders and provide important clinical information regarding patient reported signs, symptoms and outcomes in order to develop appropriate endpoints in the clinical development process. If you are interested in learning more about the study or participating in the study, click here or visit clinicaltrials.gov , using the identifier NCT04372446.