Clinical trial NCT04372446: Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency
Official title: 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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Generalized Arterial Calcification in Infancy
Autosomal Recessive Hypophosphatemic Rickets Type 2
Keywords: ENPP1 deficiency and ABCC6 deficiency
Lead sponsor: Inozyme Pharma
Sponsor class: INDUSTRY
Collaborators: name: GACI Global
name: Engage Health Inc.
First posted: 2020-05-04
Enrollment: 38
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 60 participants across four groups; person or parent/legal guardian affected by ENPP1 (GACI or ARHR2) or the acute form of ABCC6 def. described below;

* Acute infantile ENPP1 def. (due to the high infant mortality, this group likely to include parents of affected children, both living and deceased)
* Acute infantile ABCC6 def. (due to the high infant mortality, this group likely to include parents of affected children, both living and deceased)
* Progressive pediatric ENPP1 def. who are still growing (note; due to the age of those who are still growing, this group is likely to include parents of affected children)
* Adult ENPP1 def. who are no longer growing (note: due to the age of those who are no longer growing, this group is likely to include both patients \> age 18 years and parents of affected children who are \< age 18 years or who are unable to answer for themselves)

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.

Eligibility criteria: 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

Primary outcomes:
measure: 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
timeFrame: 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.
measure: To collect information regarding disease burden, in the patient's / families own terms
timeFrame: 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.
measure: To build a foundation of evidence to contribute to the dossier, used for many purposes, including reimbursement and regulatory bodies.
timeFrame: 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.
Secondary outcomes:
Other outcomes:
Locations:
city: Eagan
country: United States
facility: Engage Health
state: Minnesota
Study officials:
affiliation: Inozyme Pharma
name: Pedro Huertas, MD
role: PRINCIPAL_INVESTIGATOR
References: