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

Overview

In partnership with GACI Global, Inozyme Pharma is conducting 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 include:

• 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. Participants will be paid $100 for participation.

Inclusion Criteria

If you are interested in participating in this study, please see below for the inclusion criteria:

1. Participant must be a person with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency who is 18 years or older

or

2. The parent/caregiver of a patient who has been diagnosed with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency. Please note, parents/caregivers of patients with ENPP1 deficiency who have passed away in the previous 3 years may participate
3. Confirmed diagnosis of ENPP1 deficiency or ABCC6 deficiency with written proof of disease provided
4. Ability to participate in the RSVP and interview in German, French or English, irrespective of country of residence.
5. Able to grant informed consent
6. Willing to participate in a 50-to-60-minute telephone interview, including follow up questions (if necessary)

Exclusion Criteria

1. Inability to meet any of the inclusion criteria