Status:
COMPLETED
Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Generalized Arterial Calcification of Infancy
Autosomal Recessive Hypophosphatemic Rickets Type2
Eligibility:
All Genders
1-110 years
Brief Summary
Background: Generalized Arterial Calcification of Infancy (GACI) is a very rare disorder. It can be fatal before birth or by age 6 months. Anumber of people with GACI survive into adulthood. Those ad...
Detailed Description
This is a natural history study of patients with Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2). GACI is an ultra-rare disorder wi...
Eligibility Criteria
Inclusion
- INCLUSION \& EXCLUSION CRITERIA:
- Based upon study purpose, participants enrolled in this protocol must:
- Have genetic confirmation of one of the following:
- GACI due to ENPP1 or ABCC6 mutations
- ARHR2 due to ENPP1 mutations
- PXE due to ABCC6 or ENPP1 mutations
- AND/OR
- Carry the clinical diagnosis of GACI, ARHR2 or PXE
- Consent or, if applicable, assent to participate in the study
- Have sufficient chart information to allow for the completion of at least one of the protocol s objectives.
Exclusion
Key Trial Info
Start Date :
April 17 2018
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 31 2020
Estimated Enrollment :
48 Patients enrolled
Trial Details
Trial ID
NCT03478839
Start Date
April 17 2018
End Date
December 31 2020
Last Update
January 8 2026
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892