NCT04372446

Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 38 (actual)
• Sponsor: Inozyme Pharma · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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

Detailed 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.

Conditions

• Generalized Arterial Calcification in Infancy
• Autosomal Recessive Hypophosphatemic Rickets Type 2

Timeline

• Start date: 2020-05-06
• Primary completion: 2020-09-30
• Completion: 2020-09-30
• First posted: 2020-05-04
• Last updated: 2021-04-01

Locations

1 site across 1 country: United States