ALS genetics program

The ALS genetics program

What does the ALS genetics program do?

With the approval of the genetic drug Tofersen (for mutations in the SOD1 gene) and studies on new drugs (for mutations in FUS, TARDBP and C9orf72), genetic diagnostics are becoming increasingly important. Genetic changes in the SOD1, C9orf72, FUS and TARDBP genes are present in 14% of all people with ALS – in 2.5 %

in the SOD1 gene. For ALS patients who are not being cared for in an ALS outpatient clinic or do not have direct access to a laboratory for ALS genetics, organizational support is provided by the ALS Genetics Program of Ambulanzpartner.

It’s so easy to take part

Step 1

Ambulanzpartner will send you documents on genetic diagnostics – for your information and for submission to your family doctor or neurologist.

Step 2

You visit your doctor to arrange genetic diagnostics – you present the documents.

Step 3

Your doctor sends a blood sample with 2 forms to a specialized genetic laboratory.

Step 4

The results of the genetic diagnostics are sent to your doctor.

Management of the program

Do you have questions about the ALS genetics program? I will be happy to help you!

Peggy Schumann

Medical research

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Further information

Why does the ALS genetics program exist?

If a harmful mutation in the SOD1 gene is detected, targeted treatment with Tofersen (Qualsody) can be carried out. Due to this therapeutic relevance, genetic testing of the SOD1 gene (and other therapy-relevant ALS genes) is generally considered for all ALS patients. It should be noted that the genetic changes mentioned can also occur without any abnormalities in the family history. After a genetic consultation with a specialist in neurology or human genetics, molecular genetic analysis is useful and possible.

Why does Ambulanzpartner support the ALS Genetics Program?

Ambulanzpartner supports people with ALS in obtaining a genetic diagnosis of the genes that cause ALS. The ALS Genetics Program analyzes genes that are potentially relevant for a genetic therapy or for participation in a clinical trial with novel drugs. With your consent, the data will be scientifically analyzed – thus making an important contribution to ALS research.

How we support you in the ALS genetics program

Recommendation of a suitable genetic laboratory specializing in ALS

Support for the family doctor or neurologist in arranging a genetic diagnosis

Processing of the genetic results for medical research (register study)

Transfer to a specialized treatment center (if a therapy-relevant genetic change is detected)

ALS genetics program

The ALS genetics program

The ALS genetics program

Step 1

Step 2

Step 3

Step 4

Management of the program

Further information

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