Autosomal Recessive Hypophosphatemic Rickets Type 2, Generalized Arterial Calcification in Infancy
Conditions
Keywords
ENPP1 deficiency and ABCC6 deficiency
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 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.
Interventions
None listed
Sponsors
GACI Global
Engage Health Inc.
Inozyme Pharma
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To improve the understanding of the characterization and burden of disease in ENPP1 deficient, and acute ABCC6 deficient, patients who are still growing and those who are done growing | Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents. | The burden of disease through the eyes/voice of the patient and or caregiver will be collected and analyze for improved understanding |
| To collect information regarding disease burden, in the patient's / families own terms | Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents. | Data will be collected in terms used by the patient and or caregiver |
| To build a foundation of evidence to contribute to the dossier, used for many purposes, including reimbursement and regulatory bodies. | Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents. | Data will be collected and analyzed to be able to draw meaningful conclusions regarding burden of disease in the voice of patients and caregivers |
Countries
United States
Outcome results
None listed