Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy

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 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.

Conditions

• Cystinosis
• Cystinosis, Nephropathic
• Spinal Muscular Atrophy

Interventions

DIAGNOSTIC_TEST

molecular-based screening

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

Sponsors & Collaborators

• Labor Becker & Kollegen, Munich, Germany

  collaborator UNKNOWN

• Screening Labor Hannover

  collaborator OTHER

• Genetikum, Ulm, Germany

  collaborator UNKNOWN

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

  collaborator UNKNOWN

• Internal Medicine, Freiburg University Hospital, Freiburg, Germany

  collaborator UNKNOWN

• Attorney DSZ Rechtsanwälte GmbH, Barkhovenallee 1, 45239 Essen

  collaborator UNKNOWN

• Cystinose Stiftung

  lead OTHER

Principal Investigators

• Katharina Hohenfellner, PD Dr. · RoMed Hospital

Study Design

Allocation

NA

Purpose

SCREENING

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

36 Hours

Max Age

72 Hours

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2018-01-15

Primary Completion

2022-09-30

Completion

2022-09-30

Countries

• Germany

Study Locations