Umbilical Cord Glucose

Summary

Congenital hyperinsulinism (HI) causes persistent neonatal hypoglycemia that, if untreated, can lead to neurodevelopmental impairments (NDI) such as cognitive delays, cerebral palsy, epilepsy, and blindness. Despite being preventable with early diagnosis and treatment, 30-50% of affected infants still suffer NDI. Transient HI occurs in about 1 in 1,200 births, while persistent forms are rarer. Current screening focuses on high-risk groups but misses many infants with HI, resulting in delayed diagnosis and brain injury. Our pilot research suggests that measuring umbilical cord blood glucose (UCBG), already routinely collected for other purposes, can serve as a timely, non-invasive screening test for HI. Arterial UCBG below 3.5 mmol/L showed excellent accuracy in predicting pathological HI. This project aims to validate UCBG screening for neonatal HI, implement a national screening program, and assess the neurological outcomes of screen-positive infants. Planned studies:

1. A review will analyze current screening strategies and the impact of delayed diagnosis on brain outcomes
2. A nationwide, prospective study in Denmark will implement UCBG screening in all newborns. Infants with arterial UCBG below 3.5 mmol/L will undergo hypoglycemia monitoring and diagnostic testing. Diagnostic accuracy and optimal thresholds will be evaluated.
3. Neurological follow-up at 6 months will assess development using standardized cognitive and motor tests, EEG, and MRI.
4. A retrospective observational study to investigate whether UCBG can provide improved risk stratification for hypoglycaemia in infants born to mothers with diabetes.

Conditions

• Congenital Hyperinsulinism (CHI)

Interventions

DIAGNOSTIC_TEST

For the screening, the interventions will be glucose measurements (and possibly G-BOBH), while follow-up assessments will include Bayley testing, EEG, and MRI.

For the majority of included newborns in the screening cohort, two blood glucose measurements will be obtained during the first hours after birth. For infants with an arterial UCBG \< 2.5 mmol/L, six glucose (and G-BHOB) measurements will be performed. Bayley assessment, EEG, and MRI will be conducted once, when cases with CHI reach 6 months of age.

Sponsors & Collaborators

• Aarhus University Hospital Skejby

  collaborator OTHER

• Rigshospitalet, Denmark

  collaborator OTHER

• Aalborg University Hospital

  collaborator OTHER

• Region Syddanmark

  collaborator OTHER

• Radiometer Medical ApS

  collaborator INDUSTRY

• Congenital Hyperinsulinism International

  collaborator OTHER

• Odense University Hospital

  lead OTHER

Study Design

Allocation

NA

Purpose

SCREENING

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Max Age

8 Months

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2026-09-30

Primary Completion

2028-08-31

Completion

2028-08-31