Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy

Plain-language summary

This study evaluates a molecular-based genetic screening method to detect cystinosis and spinal muscular atrophy early in newborns. It included newborns whose dried blood spot card was sent to participating laboratories and for whom parental consent was obtained. It was a study with no assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Completed

Sponsor

Cystinose Stiftung

Intervention

molecular-based screening

Start date

1/15/2018

Estimated completion

9/30/2022

Countries

Germany

Related genes

Locations

• Rosenheim, Germany
• Essen, Germany
• München, Germany
• Münster, Germany

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Newborns whose dry bloodspot card was sent to screening labs involved in the project
* Consent of guardians

Exclusion Criteria:

* no consent of guardians