ALS Biomarkers Study

Characterisation of a panel of disease biomarkers in peripheral blood from individuals with amyotrophic lateral sclerosis/motor neuron disease

Professor Andrea Malaspina is leading a multicentre study with recruitment sites within and outside London. The main goal is to establish a biological repository that covers the natural history of the disease and provides the experimental platform to test novel biomarkers to evaluate prognosis and treatment response in affected individuals. This approach should help streamlining clinical trials, providing clinical stratification and biological outcomes of response to the medicinal product under investigation.

The study has already delivered a better understanding of how the disease can be monitored and characterised using simple assays for the determination of protein levels in blood.

Who can take part?

Any patients with ALS or with other neurological conditions, as well as healthy individuals with or without a family history of ALS, can take part in the study. All study activities can be completed entirely remotely (consent, questionnaires, providing biosamples using simple at-home collection kits), meaning that no visits to the study site are required.

To find out more about the study, contact the study team:

Professor Andrea Malaspina, Principal Investigator: a.malaspina@nhs.net

Iman Khwaja, Research Assistant: iman.khwaja@nhs.net

Luca Zampedri, Clinical Research Nurse: luca.zampedri@nhs.net

UK Chief Investigator

Dr Andrea Malaspina

Research summary

This study will evaluate the expression of a range of biomarkers linked to the structural and immunometabolic changes taking place in amyotrophic lateral sclerosis (ALS) in biological fluids collected from individuals with ALS at different time points during the development of the disease. We will test the expression of these molecules with reference to a healthy control state and other neurological disorders.

Our aim is to validate easily accessible disease biomarkers functioning as reliable predictors of disease severity and to be used for the stratification of the disease in homogeneous phenotypes. We also aim at collecting biological samples allowing cultures of specific cell types that can be used to identify novel disease biomarkers and test novel therapeutic strategies.

To make the study effective, we will access clinical and diagnostic data which relate to investigations that have led to the diagnosis and the clinical follow-up. Recruitment will take place in three motor neuron disease (MND) clinics serving a population of approximately 7,000,000 in North-East London, Herefordshire and Essex. A similar study is currently ongoing in animal models of the disease.

Current status

Active – recruiting

Key dates

Actual opening date: 24 June 2009

Planned recruitment end date: 31 December 2025

Recruitment groups

1. Patients with MND.

2. Neurologically healthy volunteers.

3. Volunteers undergoing investigation for a suspected neurological disorder.

4. Individuals with a diagnosis of a neurodegenerative, neuroinflammatory and neuromuscular disorder.

Recruitment targets

Between 1,500 and 2,700 participants in total, broken down into the recruitment groups:

• 675 to 1,200 people with MND

• 825 to 1,500 healthy and neurological controls

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

Locations

• Basildon, Principal Investigator: Andrea Malaspina

• Liverpool, Principal Investigator: Carolyn Young  Site opening soon

• London - UCL/National Hospital for Neurology and Neurosurgery, Principal Investigator: Andrea Malaspina

• London - King's College Hospital, Principal Investigator: Ammar Al-Chalabi

• Oxford, Principal Investigator: Kevin Turner

• Sheffield, Principal Investigator: Chris McDermott

Information about study sites

Contact details

Email: a.malaspina@nhs.net, iman.khwaja@nhs.net and luca.zampedri@nhs.net

Inclusion / exclusion criteria

Inclusion criteria

• For all patients*, 18+ years of age.

• For ALS patients, a diagnosis of definite or probable ALS according to the El Escorial Criteria.

• For MND patients, a diagnosis of any MND variant such as progressive bulbar palsy (PBP), primary lateral sclerosis (PLS), and progressive muscular atrophy (PMA).

*Please note that this study also recruits patients without neurological disorders (healthy controls) and patients with non-ALS/MND neurological disorders (neurological controls).

Exclusion criteria

• Less than 18 years of age.

• Lack of ability to consent.

Sponsor

University College London

Study design

Cohort observational

Outcome measures

• Longitudinal collection of blood, cerebrospinal fluid, skin, urine and stool samples.

• Collection of supporting clinical and genetic data from ALS/MND patients, neurological and healthy controls, including imaging and results of neurophysiological investigations.

• Correlation between neurological dysfunction levels and the change of single or panels of biomarkers expression in peripheral blood, urine, cerebrospinal fluid, stools and fibroblasts (and derived mature cell types).

• Definition of MND-specific biomarkers by cross-analysis of other disease phenotypes and healthy controls.

Participant information sheets

Participant information for patients (PDF, 170KB)

Participant information for controls (PDF, 172KB)