Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy

NACompletedINTERVENTIONAL
Enrollment

300,000

Participants

Timeline

Start Date

January 15, 2018

Primary Completion Date

September 30, 2022

Study Completion Date

September 30, 2022

Conditions
CystinosisCystinosis, NephropathicSpinal Muscular Atrophy
Interventions
DIAGNOSTIC_TEST

molecular-based screening

Test for three mutations in the CTNS gene and one mutation in the SMA1 gene.

Trial Locations (4)

45122

University Hospital Essen, Center for Pediatrics and Adolescent Medicine, Essen

48149

University Hospital Münster, Clinic and Polyclinic for Pediatrics and Adolescent Medicine, Münster

80337

Dr. von Haunersches Kinderspital, München

83022

RoMed Hospital, Rosenheim

All Listed Sponsors
collaborator

Labor Becker & Kollegen, Munich, Germany

UNKNOWN

collaborator

Screening Labor Hannover

OTHER

collaborator

Genetikum, Ulm, Germany

UNKNOWN

collaborator

Bavarian State Office of Health and Food Safety (LGL), Unterschleißheim, Germany

UNKNOWN

collaborator

Internal Medicine, Freiburg University Hospital, Freiburg, Germany

UNKNOWN

collaborator

Attorney DSZ Rechtsanwälte GmbH, Barkhovenallee 1, 45239 Essen

UNKNOWN

lead

Cystinose Stiftung

OTHER

NCT06027385 - Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy | Biotech Hunter | Biotech Hunter