Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

Completed

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

In brief

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

Key facts

Study ID

NCT04372446

Run by

Inozyme Pharma

People needed

38

Starts

2020-05-06

Expected to finish

2020-09-30

Last updated by the study team

2021-04-01

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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)

You may not qualify if…

• Inability to meet any of the inclusion criteria

Where it is running

• Engage Health — Eagan, Minnesota, United States

Full record on ClinicalTrials.gov

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