Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

Inozyme Pharma

Status: Completed

Conditions: Generalized Arterial Calcification in Infancy; Autosomal Recessive Hypophosphatemic Rickets Type 2

Study type: Observational

Funder types: Industry; Other

Identifiers

NCT04372446

INZ701-004

Details and patient eligibility

About

To date, the investigators lack characterization of, the burden of, and the systemic progression of disease in ENPP1 deficiency and ABCC6 deficiency from a patient and/or parent perspective. This study aims to document this characterization, progression as well as the burden of disease. Link to the study registration-

https://www.engagehealth.com/survey/TakeSurvey.aspx?SurveyID=8252n62

Full description

This will be a comprehensive, cross-sectional study conducted in approximately 60 individuals (or representative parents of patients) affected by ENPP1 deficiency and the acute form of ABCC6 deficiency. All study participants will complete the RSVP, PRO tools and upload a proof of disease form, followed by an interview conducted by a trained interviewer. It is estimated that each respondent will need up to 60 minutes for the entire process; 20 minutes to complete the RSVP, PRO tools and to upload proof of diagnosis of ENPP1 deficiency or the acute form of ABBC6 deficiency, and approximately 40 minutes to complete the interview and address any follow-up questions if needed.

Enrollment: 38 patients

Sex: All

Volunteers: No Healthy Volunteers

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
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 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 40-to-60-minute telephone interview, including follow up questions (if necessary)

Exclusion criteria

• Inability to meet any of the inclusion criteria

Trial design