Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria
In Germany parents of newborns are offered newborn screening (NBS) for 17 congenital diseases as a standard benefit of statutory health insurance. NBS in Germany is voluntary. Cystinosis and hyperoxaluria are very rare diseases. They are inherited autosomal-recessively. Neither disease can be detected by the methods es
| Condition(s) | Cystinosis, Primary Hyperoxaluria |
|---|---|
| Status | Recruiting |
| Phase | NA |
| Study type | Interventional |
| Summary | In Germany parents of newborns are offered newborn screening (NBS) for 17 congenital diseases as a standard benefit of statutory health insurance. NBS in Germany is voluntary. Cystinosis and hyperoxaluria are very rare diseases. They are inherited autosomal-recessively. Neither disease can be detected by the methods established in routine NBS. However, common genetic mutations are known for both diseases. The aim of the study is to provide a scientific basis for molecular genetic NBS for cystinosis and primary hyperoxaluria (PH). Specifically, the study will investigate whether the inclusion of these diseases into general NBS should be recommended. By observing the identified infants in comparison to patients symptomatically diagnosed outside of the pilot project, it will be determined whe |
| Who can participate | 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. |
| Ages | 32 Hours to 72 Hours |
| Sex | All |
| Lead sponsor | Cystinose Stiftung |
| Locations | Hanover, Lower Saxony, Germany |
| Start date | 2022-03-15 |
| NCT ID | NCT05843851 |
| Official listing | https://clinicaltrials.gov/study/NCT05843851 |