Genetic screening for rare kidney diseases in newborns
Scientific Basis for a Newborn Screening for Cystinosis and Primary Hyperoxaluria
This study is testing if genetic screening for rare kidney diseases in newborns can help doctors find and treat conditions like cystinosis and primary hyperoxaluria earlier, leading to better health outcomes.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 200000 (estimated) |
| Ages | 32 Hours to 72 Hours |
| Sex | All |
| Sponsor | Cystinose Stiftung Academic / other |
| Locations | 1 site (Hanover, Lower Saxony) |
| Trial ID | NCT05843851 on ClinicalTrials.gov |
What this trial studies
This study aims to evaluate the feasibility and effectiveness of molecular genetic newborn screening for cystinosis and primary hyperoxaluria, two rare inherited kidney diseases. It will involve newborns in Germany whose parents consent to participate in the screening project, using next-generation sequencing to identify genetic mutations associated with these conditions. The study will compare the health outcomes of infants diagnosed through this screening with those diagnosed symptomatically outside the project, assessing whether early detection leads to better prognoses.
Who should consider this trial
Good fit: Ideal candidates for this study are newborns whose parents have consented to participate in the genetic screening project.
Not a fit: Newborns whose parents do not consent to participate in the screening will not benefit from this study.
Why it matters
Potential benefit: If successful, this screening could lead to earlier diagnosis and treatment of cystinosis and primary hyperoxaluria, improving health outcomes for affected infants.
How similar studies have performed: Previous pilot projects have established a scientific basis for screening cystinosis, indicating potential success for similar approaches in other laboratories.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Hanover, Lower Saxony
- Screening Laboratory Hanover — Hanover, Lower Saxony, Germany (Recruiting)
Study contacts
- Study coordinator: Katharina Hohenfellner, PD Dr.
- Email: Katharina.Hohenfellner@ro-med.de
- Phone: +4986170532262
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.