Inherited forms of MND

Biogen ATLAS

This study is investigating QALSODY (tofersen). QALSODY is a prescription medicine used to treat adults with amyotrophic lateral sclerosis (ALS) who have a mutation, or change, in the superoxide dismutase 1 (SOD1) gene. It was recently licenced as a treatment in the US and the European Union.

The optimum timing for starting treatment is currently unknown. The ATLAS study is investigating how effective the treatment is when it is started in started in clinically pre-symptomatic adults with a Superoxide Dismutase 1 (SOD1) mutation.

Can I take part in the study?

The main criteria to participate in the ATLAS study (Part A) are:

• Be 18 years of age or older

• Not to have any signs or symptoms of MND

• Have a certain SOD1 mutation (that is associated with high/complete penetrance and rapid disease progression). The study is looking for family members of MND patients with a known SOD1 mutation, to screen and see if they carry the same SOD1 mutation (genetic counselling and genetic testing is carried out during the study screening process).

Ionis FUSION trial

This study is evaluating the efficacy of the study drug (ION363) for the treatment of MND caused by mutations in the FUS gene. The treatment is designed to target the mutated FUS gene, which makes FUS protein. When FUS protein builds up in motor neurons, it may contribute to ALS. The study drug is designed to stop the FUS gene from making this protein, which may improve symptoms of ALS. 

Can I take part in the study?

The main criteria to participate in this study are:

• You are at least 12 years old

• You have ALS with a mutation in the FUS gene.

MAGNET

MAGNET is a platform trial to simultaneously investigate the efficacy and safety of multiple drugs for MND. We do this by using so-called 'study arms'. Each study arm investigates the efficacy and safety of one drug or a combination of drugs.

Currently one arm is active, which is investigating the effect of lithium carbonate. Previous research has shown that lithium is not effective in all patients with MND, but may be beneficial in patients with a variation in the UNC13A gene (1 in 6 patients has this variation).

Can I take part in the study?

The main criteria to participate in the study are:

• Be 18 years of age or older

• Have a confirmed diagnosis of MND

• Have a mutation in the UNC13A gene (genetic testing is carried out as part of screening assessments for the study)

ACORN

The ACORN study aims to understand how the C9orf72 gene expansion causes ALS and FTD in some but not all carriers, and the timing if so. ACORN involves people from all over the UK who are known to have ALS or FTD caused by the C9orf72 genetic change. It also involves their close relatives (e.g. siblings or adult children) who may or may not be at higher risk of future ALS or FTD. With their permission, ACORN will develop a register of people who carry, or who are at risk of carrying the C9orf72 gene expansion, and who are keen to take part in research. These studies will define disease markers and predictors. Importantly, this research can be done without relatives needing to know their own genetic status.

Can I take part in the study?

The main criteria to participate in the study are:

• Be 18 years of age or older

• Fall into one of these four groups:

1. Have MND or FTD and it has been confirmed that you carry the C9orf72 gene expansion

2. Are a first degree relative (parent, sibling or child) of someone who carries/carried the C9orf72 gene expansion (you may or may not know if you yourself carry this expansion)

3. Have apparently sporadic MND or FTD (known not to be genetic)

4. Have NO family history of MND or FTD and wish to join the study as a healthy volunteer.