We have launched a global patient registry (PROPEL) in partnership with GACI Global, a patient advocacy group that connects families affected by generalized arterial calcification of infancy (GACI) or autosomal recessive hypophosphatemic rickets type 2 (ARHR2). The registry will evaluate children and adults living with ENPP1 Deficiency and individuals under 18 years of age with infantile-onset ABCC6 Deficiency (GACI Type 2). We expect the registry to both increase understanding of the clinical features of these diseases and provide invaluable information to the scientific and medical community.
The patient registry is designed to better characterize the natural history, disease course, long-term outcomes, and true disease burden in patients with ENPP1 Deficiency and infantile-onset ABCC6 Deficiency (GACI Type 2). The registry will assess three distinct cohorts:
- Patients of all ages with ENPP1 Deficiency with evidence of biallelic ENPP1 variants
- Patients with evidence of monoallelic ENPP1 variants and disease-related symptoms
- Patients under 18 years of age with infantile-onset ABCC6 Deficiency with monoallelic or biallelic ABCC6 variants
To learn more about the patient registry, please visit clinicaltrials.gov.
