Status:
COMPLETED
Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency
Lead Sponsor:
Inozyme Pharma
Collaborating Sponsors:
GACI Global
Engage Health Inc.
Conditions:
Generalized Arterial Calcification in Infancy
Autosomal Recessive Hypophosphatemic Rickets Type 2
Eligibility:
All Genders
Brief 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 stud...
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 deficienc...
Eligibility Criteria
Inclusion
- Participant must be a person with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency who is 18 years or older
- 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
- Confirmed diagnosis of ENPP1 deficiency or ABCC6 deficiency with written proof of disease provided
- Ability to participate in the RSVP and interview in German, French or English, irrespective of country of residence.
- Able to grant informed consent
- Willing to participate in a 40-to-60-minute telephone interview, including follow up questions (if necessary)
Exclusion
- Inability to meet any of the inclusion criteria
Key Trial Info
Start Date :
May 6 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
September 30 2020
Estimated Enrollment :
38 Patients enrolled
Trial Details
Trial ID
NCT04372446
Start Date
May 6 2020
End Date
September 30 2020
Last Update
April 1 2021
Active Locations (1)
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1
Engage Health
Eagan, Minnesota, United States, 55121