Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

  • STATUS
    Recruiting
  • participants needed
    60
  • sponsor
    Inozyme Pharma
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Updated on 19 February 2024
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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

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.

Details
Condition Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets Type 2
Age 100years or below
Clinical Study IdentifierNCT04372446
SponsorInozyme Pharma
Last Modified on19 February 2024

Eligibility

 Yes No Not Sure

Inclusion Criteria

b'Participant must be a person with ENPP1 deficiency or the acute infantile form of'
b'ABCC6 deficiency who is 18 years or older'
b'The parent/caregiver of a patient who has been diagnosed with ENPP1 deficiency or the'
b'acute infantile form of ABCC6 deficiency. Please note, parents/caregivers of patients'
b'with ENPP1 deficiency who have passed away may participate'
b'Confirmed diagnosis of ENPP1 deficiency or ABCC6 deficiency with written proof of'
b'disease provided'
b'Ability to participate in the RSVP and interview in German, French or English,'
b'irrespective of country of residence.'
b'Able to grant informed consent'
b'Willing to participate in a 40-to-60-minute telephone interview, including follow up'
b'questions (if necessary)'

Exclusion Criteria

b'Inability to meet any of the inclusion criteria'
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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