Status:
COMPLETED
Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy
Lead Sponsor:
Cystinose Stiftung
Collaborating Sponsors:
Labor Becker & Kollegen, Munich, Germany
Screening Labor Hannover
Conditions:
Cystinosis
Cystinosis, Nephropathic
Eligibility:
All Genders
36-72 years
Phase:
NA
Brief Summary
Newborn screening in Germany is a voluntary program. Cystinosis and spinal muscular atrophy (SMA) are rare autosomal recessive diseases. They are inherited in an autosomal recessive manner, i.e. both ...
Detailed Description
Population-based newborn screening (NBS) is an important public health program that has vastly improved the course of several diseases through early detection. The selection of screened disorders gene...
Eligibility Criteria
Inclusion
- Newborns whose dry bloodspot card was sent to screening labs involved in the project
- Consent of guardians
Exclusion
- no consent of guardians
Key Trial Info
Start Date :
January 15 2018
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
September 30 2022
Estimated Enrollment :
300000 Patients enrolled
Trial Details
Trial ID
NCT06027385
Start Date
January 15 2018
End Date
September 30 2022
Last Update
September 7 2023
Active Locations (4)
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1
RoMed Hospital
Rosenheim, Bavaria, Germany, 83022
2
University Hospital Essen, Center for Pediatrics and Adolescent Medicine
Essen, Germany, 45122
3
Dr. von Haunersches Kinderspital
München, Germany, 80337
4
University Hospital Münster, Clinic and Polyclinic for Pediatrics and Adolescent Medicine
Münster, Germany, 48149