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NCT03478839 · ClinicalTrials.gov registry record
Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)
A clinical trial, sponsored by National Human Genome Research Institute (NHGRI).
- Completed
- Registry status
- 48
- Enrollment target
NCT03478839: Completed study, sponsored by National Human Genome Research Institute (NHGRI).
NCT03478839 is a clinical trial that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 48 participants. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT03478839 has completed, sponsored by National Human Genome Research Institute (NHGRI).
- COMPLETED
- Registry status
- 48 participants
- Enrollment target
Study 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 adults suffer from side effects of the disease, including rickets. It is unknown how common the disease Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is. It also has side effects. GACI and ARHR2 are usually caused by the mutations in the same gene. There are no approved treatments for the two diseases. Researchers want to study people with these diseases and their family members. This may help understand these rare and unique diseases better. The data could lead to new treatments for GACI and ARHR2. Objectives: To better understand the progression of GACI and ARHR2 and how genes might play a role in them. Eligibility: People with GACI or ARHR2, both living and deceased, and their parents and siblings. Design: Participants will allow researchers to access their medical records. They will give this consent by mail, email, or fax. Data will be taken from the records. Participants names will not be used. Instead, they will be identified by a code. Participants may give a blood sample. If a participant withdraws from the study, their data and samples will be destroyed. However, the coded clinical data in the official medical record and data in databases will NOT be destroyed.
Primary Outcome
The main objective of this study is to determine the natural history of patients with GACI or ARHR2.
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 48 participants |
| Start Date | 2018-04-17 |
| Est. Completion | 2020-12-31 |
What the finished NCT03478839 record still lists
NCT03478839 is an observational study that tracks outcomes without assigning an intervention. The registry caps enrollment at 48 participants, a relatively small participant target.
The record links to 0 conditions, and to 0 interventions.
NCT03478839 does not publish any study locations in the registry export this page uses.
Frequently Asked Questions
What is clinical trial NCT03478839 about?
NCT03478839 is a clinical study titled "Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)". 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 adults suffer from side effects of the disease, including rickets. It is unknown how common the diseas...
What is the current status of trial NCT03478839?
This trial is currently completed. The enrollment target is 48 participants. The study started on 2018-04-17. Estimated completion is 2020-12-31.
Who is sponsoring clinical trial NCT03478839?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
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