Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria

Launched by CYSTINOSE STIFTUNG · Apr 24, 2023

Keywords

ClinConnect Summary

This clinical trial is exploring the possibility of adding genetic tests for two rare inherited diseases—cystinosis and primary hyperoxaluria—to the routine newborn screening program in Germany. Currently, newborn screening checks for 17 diseases, but cystinosis and hyperoxaluria are not included because the usual testing methods cannot detect them. The study aims to understand if testing for these diseases could help with early diagnosis and treatment, leading to better health outcomes for affected infants.

To participate, newborns must be enrolled in the screening program with their parents' consent. The trial will involve testing a small sample of blood taken from the baby to look for specific genetic mutations linked to these diseases. Parents will be informed if their child tests positive for cystinosis, while those with a potential indication of hyperoxaluria will be asked to provide additional urine samples for further evaluation. The goal is to screen 200,000 newborns by 2025, and if the results show that early diagnosis is beneficial, the researchers will seek to include these tests in the standard newborn screening program.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Newborns participating at the NGS with parent's consent to participate in this screening project
• Exclusion Criteria:
• • Newborns without parent's consent to participate in this screening project.