Skip to main content
OpenTrials
Completed

NCT Number: NCT04372446

Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Generalized Arterial Calcification in Infancy Arterial calcification of infancy Autosomal Recessive Hypophosphatemic Rickets Type 2

Sex eligibility

All sexes

Study type

Observational

Primary location

Engage Health

Eagan, Minnesota, 55121, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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)

Exclusion criteria

  • Inability to meet any of the inclusion criteria

Treatment and study plan

Primary outcomes

  1. 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

    Time frame: 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

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

    Time frame: 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

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

    Time frame: 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

Sponsors and collaborators

Lead sponsor

Inozyme Pharma

Industry

Collaborators

  • Engage Health Inc.
  • GACI Global

Registry information

Official study 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

Important dates

Study start
2020
Primary completion
2020
Study completion
2020
First posted
May 4, 2020
Registry last updated
Apr 1, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.