NCT06027385: GENESIS1

Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy

Completed NA Last updated 7 September 2023

What this trial tests

NA trial testing molecular-based screening in Cystinosis in 300,000 participants. Completed in 30 September 2022.

Timeline

15 January 2018

Primary endpoint
30 September 2022

30 September 2022

Quick facts

Lead sponsor	Cystinose Stiftung
Phase	NA
Status	Completed
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	screening
Enrollment	300,000
Start date	15 January 2018
Primary completion	30 September 2022
Estimated completion	30 September 2022
Sites	4 locations across Germany

Drugs / interventions tested

• molecular-based screening

Conditions studied

• Cystinosis — all drugs for Cystinosis →
• Cystinosis, Nephropathic — all drugs for Cystinosis, Nephropathic →
• Spinal Muscular Atrophy — all drugs for Spinal Muscular Atrophy →

Sponsor

Cystinose Stiftung

Who can join

Adults 36 Hours to 72 Hours, any sex, with Cystinosis or Cystinosis, Nephropathic. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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 parents carry a defective gene. Neither disease can be detected early by the methods established in routine newborn screening. However, common genetic mutations are known for both diseases.

The aim of the study presented here is to provide the scientific basis for molecular genetic newborn screening for cystinosis and SMA. In particular, to investigate whether inclusion of these diseases in general newborn screening should be recommended.

The participating screening laboratories for this project are Labor Becker \& Kollegen, Munich, Germany and Screening Laboratory Hannover, Germany. Hospitals that send their dry blood spot cards for routine newborn screening to these laboratories will receive an offer to participate in the pilot project. Participation is free of charge.

Parents who wish to participate in this pilot project will receive an information sheet explaining the screening process and objectives. A parent and the treating physician sign the information sheet as documentation of informed consent. Their signature and informed consent are required for the pilot.

Routine NBS according to German pediatric guidelines involves the collection of dried blood spot cards 36-72 hours after birth. Molecular genetic screening in the pilot project will be performed with the same dried blood spot card used for routine newborn screening.

In cystinosis, genetic testing for the 3 most common mutations in Germany will be performed. In SMA, a homozygous deletion of exon 7 in the SMN gene is detected by a PCR test. The molecular genetic test is performed on the same day as routine newborn screening.Normal findings are not reported to parents. However, they can contact the laboratories to inquire about them.

Parents of newborns with two mutations in the cystinosis gene or with a homozygous deletion of exon 7 in the SMN gene are immediately informed of the disease by a physician. Further diagnostics to confirm the disease will be organized close to home.

The study started on Jan. 15, 2018, and recruitment was completed on Sept. 30, 2022.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.