Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)

Completed

Conditions studied: Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets Type2

In brief

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.

Key facts

Study ID
NCT03478839
Run by
National Human Genome Research Institute (NHGRI)
People needed
48
Starts
2018-04-17
Expected to finish
2020-12-31
Last updated by the study team
2026-07-16

Who can join

Age: 1 and older, up to 110. Sex: any. Healthy volunteers: not accepted.

Where it is running

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.