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Natural History of GACI With or Without ARHR2 or PXE

NCT03758534 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 80

Last updated 2018-11-29

No results posted yet for this study

Summary

Generalized arterial calcification of infancy (GACI) is an ultra-rare disorder with an estimated birth prevalence of around 1 in 400,000.1 GACI is generally fatal before birth or within the first six months after birth. The cause of death is frequently myocardial infarction or stroke. GACI is strongly associated with inactivating mutations in ectonucleotide pyrophosphate/ phosphodiesterase 1 (ENPP1). Many patients with GACI, including some without an ENPP1 mutation also present with mutations in adenosine triphosphate binding cassette transporter protein subfamily C member 6 (ABCC6). Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and pseudoxanthoma elasticum (PXE) are believed to be closely related to GACI. ARHR2 is caused by mutations in the ENPP1 gene and PXE is caused by mutations in the ABCC6 gene, with both being observed among patients with GACI. The natural history of GACI and in particular its long term morbidity and mortality are poorly understood. The primary objective of this study is to characterize overall survival among patients with GACI, over time from birth.

Conditions

  • Generalized Arterial Calcification in Infancy
  • Autosomal Recessive Hypophosphatemic Rickets
  • Pseudoxanthoma Elasticum

Interventions

OTHER

No intervention

This is a retrospective chart review study.

Sponsors & Collaborators

  • ICON plc

    collaborator INDUSTRY

  • Universität Münster

    lead OTHER

Principal Investigators

  • Frank Rutsch, MD · WWU Munster

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-03-15
Primary Completion
2019-12-31
Completion
2019-12-31

Countries

  • Germany

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03758534 on ClinicalTrials.gov