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NCT04372446

Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

Completed Last updated 1 April 2021
What this trial tests

trial in Generalized Arterial Calcification in Infancy in 38 participants. Completed in 30 September 2020.

Timeline
6 May 2020
Primary endpoint
30 September 2020
30 September 2020

Quick facts

Lead sponsorInozyme Pharma
StatusCompleted
Study typeOBSERVATIONAL
Enrollment38
Start date6 May 2020
Primary completion30 September 2020
Estimated completion30 September 2020
Sites1 location across United States

Conditions studied

Sponsor

Inozyme Pharma — full company profile →

Who can join

Eligibility, any sex, with Generalized Arterial Calcification in Infancy or Autosomal Recessive Hypophosphatemic Rickets Type 2. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

  1. Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective.
    O'Brien C, Khursigara G, Huertas P, Leiro B, et al · · 2022 · cited 3× · PMID 35895733 · DOI 10.1371/journal.pone.0270632

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Other Inozyme Pharma trials

Trials by the same sponsor.

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