NCT04372446
ENPP1 Deficiency, ABCC6 Deficiency, Autosomal Recessive Hypophosphatemic Rickets Type 2, Generalized Arterial Calcification in Infancy
The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.
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
All
Any
No
Observational
38
2020-05-06
2021-04-01
Eagan, Minnesota, United States
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)
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