Searching for the cause of unexplained high levels of calcium in infants: The Canadian and European experience

Idiopathic Infantile Hypercalcemia: European-Canadian Consortium

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ISRCTN

Registry ID

ISRCTN88115690

Enrollment

200

Registered

2016-01-13

Start date

2013-01-01

Completion date

Unknown

Last updated

2022-01-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Idiopathic infantile hypercalcemia Genetic Diseases Idiopathic infantile hypercalcemia

Interventions

Children with hypercalcemia and hypercalciuria or isolated hypercalciuria without an identified aetiology will be approached to try to determine if they have mutations in CYP24A. Most

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Children inclusion criteria: 1. Documented hypercalcemia on at least 2 occasions without any known etiology 2. Idiopathic hypercalciuria without any known etiology Family members inclusion criteria: None

Exclusion criteria

Exclusion criteria: Children exclusion criteria: Children with known causes of hypercalcemia or hypercalciuria Family members inclusion criteria: None

Design outcomes

Primary

Measure	Time frame
Number of children with presumed IIH that have CYP24A1 mutations is determined using DNA mutational analyses at the end of the study period.	—

Secondary

Measure	Time frame
Utility of vitamin D metabolite ratios to diagnose and manage children with known CYP24A1 mutations is determined using LC-MS/MS (tandem mass spectrometry) at the end of the study period.	—

Countries

Canada

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026