Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

NCT04372446 | Completed

• 1 other identifier: INZ701-004
• Study Type: observational
• Target: 38
• Locations: 1 country
• Sites: 1

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

Conditions

Generalized Arterial Calcification in Infancy; Autosomal Recessive Hypophosphatemic Rickets Type 2

Keywords

ENPP1 deficiency and ABCC6 deficiency

Outcome Measures

Primary Outcomes (3)

• 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

  The burden of disease through the eyes/voice of the patient and or caregiver will be collected and analyze for improved understanding

  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.

• To collect information regarding disease burden, in the patient's / families own terms

  Data will be collected in terms used by the patient and or caregiver

  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.

• To build a foundation of evidence to contribute to the dossier, used for many purposes, including reimbursement and regulatory bodies.

  Data will be collected and analyzed to be able to draw meaningful conclusions regarding burden of disease in the voice of patients and caregivers

  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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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)

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)

Sponsors & Collaborators

• Inozyme Pharma: lead
• GACI Global: collaborator
• Engage Health Inc.: collaborator

Study Sites (1)

Engage Health

Eagan, Minnesota, 55121, United States

Location

Related Links

• Registration link to participate in the survey

MeSH Terms

Conditions

Arterial calcification of infancy

Study Officials

• Pedro Huertas, MD

  Inozyme Pharma

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 13, 2020
• First Posted: May 4, 2020
• Study Start: May 6, 2020
• Primary Completion: September 30, 2020
• Study Completion: September 30, 2020
• Last Updated: April 1, 2021

Record last verified: 2021-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)