Status:
UNKNOWN
Natural History of GACI With or Without ARHR2 or PXE
Lead Sponsor:
Universität Münster
Collaborating Sponsors:
ICON plc
Conditions:
Generalized Arterial Calcification in Infancy
Autosomal Recessive Hypophosphatemic Rickets
Eligibility:
All Genders
Brief 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 ...
Detailed Description
Background: 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 characterized by extensive arterial calc...
Eligibility Criteria
Inclusion
- GACI genotype (mutation in ENPP1 and/or ABCC6) confirmed through mutational analysis of the patient and a GACI phenotype confirmed by imaging or biopsy; or
- GACI phenotype confirmed with imaging, biopsy, or mutational analysis of the parents indicating a GACI genotype (mutation in ENPP1 and/or ABCC6) coinciding with symptoms of the patient.
- Data will be collected for both living and deceased patients
Exclusion
- Caregivers are not able to give written consent.
Key Trial Info
Start Date :
March 15 2018
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2019
Estimated Enrollment :
80 Patients enrolled
Trial Details
Trial ID
NCT03758534
Start Date
March 15 2018
End Date
December 31 2019
Last Update
November 29 2018
Active Locations (1)
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1
WWU Munster
Münster, Germany, 48149