MND genetics

Next generation genetic screening in motor neuron disease

UK Chief Investigator

Dr Pietro Fratta

Research summary

Motor neuron diseases (MND) are a group of progressive incurable neurodegenerative disorders. A number of genetic defects have been identified as causative for MND although the cause of the majority of cases is still unknown.

The only drug shown to modify disease course is riluzole, which has a significant, but modest effect of prolonging survival of two to three months (Miller et al. 2012). Novel therapeutic strategies are currently aiming at targeting the primary genetic defects that cause MND, making rapid and efficient genetic screening crucial for future therapeutic strategies.

We propose to genetically screen 200 participants with a suspected, possible, probable or definite diagnosis of ALS or diagnosed with other MND variants, and blood related family members in a rapid and effective way. This process will be fully integrated with the clinical diagnostic laboratory at the NHNN. This program will benefit both patients and clinical research.

The benefits this program will bring to MND patient care in the NHS and to MND research are:

Current status

Active – recruiting

Key dates

Actual opening date: 28 September 2018

Recruitment planned end date: 14 July 2023

Recruitment groups

Recruitment targets

150 patients and 50 healthy family members

Click here to see how many participants have been recruited into this study to date (external link to the NIHR public study search) 


London (UCL / National Hospital for Neurology and Neurosurgery)

Information about study sites

Contact details

Luca Zampedri


Inclusion / exclusion criteria

Inclusion criteria

Exclusion criteria

Patients from the above described groups and family members below 18 years of age or who are unable to consent.


NIHR Clinician Scientist Award Scheme


University College London

Study design

Observational (genetic epidemiology)

Outcome measures

The principal objective of this project is to identify genetic variations causative for MND in our cohort of patients.

Secondary objectives: