Centre of expertise for Amyotrophic Lateral Sclerosis

INTRODUCTION

Amyotrophic Lateral Sclerosis is a rare neurodegenerative disease (incidence 3/100,000), affecting the central and peripheral motor neurons and inducing multiple motor disabilities of the limbs, trunk, diaphragm and the mouth-pharynx-larynx muscles. It is also frequently observed cognitive and behavioral disorders similar to those of the frontal temporal dementia.

Currently without therapeutic therapy available, the disease progression is continuous with a final lethal prognosis (50% of patient death withing3 years, 90% within 6 years). ALS care is complex and requires multi-professional and pluridisciplinary expertise.

Even if the disease presents a large panel of clinical presentation and progression, ALS progression leads after some time to the same critical clinical settings: disability of all voluntary muscles, nutritional disorders, respiratory failure, and difficulty to communicate. At the advanced stage of ALS, the clinical management is decided with the patient in accordance with his/her wish regarding his/her life project, acceptance of life support care (respiratory and nutrition support) and his/her wish of palliative care (symptoms care, limitation or end of care, access to deep sedative solutions).

In a process of ALS patient care improvement, 17 clinical departments have been labeled ALS reference centers in France in 2002 (Rare disease national plan – PNMR1) and regrouped within a rare disease care national network (FILSLAN) in 2014. A second call in 2017 has identified 19 reference centers on SLA and other rare diseases of motor neurons (list available on www.portail-sla.fr). Those centers have the missions to provide clinical expertise, diagnosis, specialized care and coordination of the care network (medico-social support against disabilities, monitoring and support on respiratory failure, palliative care at home or in the hospital…). They have also the missions to promote patients and relative therapeutic education, medical and paramedical staff training, and clinical, basic and human sciences research.

The ALS center in Lille has been recognized as a reference center since 2002. It is integrated within the Neurology A service (Pr L Defebvre) within the Neurology and Neurosciences pole of the Lille University Hospital. The ALS center was labeled « Constitutive center, rare disease » in 2017.

In 2017, the center is managing 335 patients with diseases presenting an ALS profile (ALS, primary lateral sclerosis, Kennedy, hereditary spastic paraparesis, distal motor neuronopathy …), including 138 new patients.

Team staff

The Lille ALS center staff includes:  

• Clinical staff: Neurologist (0.7 full-time equivalent), lung specialist (0.1  fte), physical medicine practitioner (0.1 fte), occupational therapist (0.4 fte), neuropsychologist (0.5 fte), social care worker (0.4 fte), dietician (0.2 fte), secretary (0.4 fte), coordination nurse (0.5 fte), respiratory Physiotherapy ( 0.5 fte), physiotherapist specialized in neurology (0.5 fte)
• Research staff :  clinical research associate (0.5 fte)

Clinical care missions

The specificities of the ALS center missions in clinical management of ALS patients are :

1. Difficult disease announcement;
2. Coordination of medical and paramedical support staff (identified by the center and involved on a case-by-case basis) and therefore animation of an informal care network ( home care, synthesis meetings, training and ethical debriefing meetings);
3. Counseling of patient on formulating anticipated wills and on designating a trusted person;
4. Participation wherever in the region on decisions about care limitation or end of treatment for a patient treated by the center within the limits of the Leonetti law (as reference medical doctor if needed);
5. Home care for patients with severe disabilities (tetraplegic or respiratory fully dependent) ;
6. Support sessions for the caregivers organized every trimester (Saturday morning) to train them and to answer their questioning (collective sessions)
7. Animation of an ethical study group open to all staff involved with the ALS patients, including health and medico social staffs, hospital care or home care staff (group animated bu the university hospital ethical committee).

ALS patients’ healthcare management includes also the monitoring of non-invasive respiratory support, preventive education on wrong path suffocation and on falls, set-up of technical help for decluttering, set-up of an enteral feeding route.

Training mission

The center is providing trainings for students of all specialties involved in the ALS care : medical doctors, neuropsychologist, palliative care specialists, speech and physical therapists, social support staff… The center is also solicited for medical continuing training by the general practitioner network and the palliative care network.

Research mission

Regarding research on ALS, some members of the ALS center and more particularly the Professor David Devos, are strongly involved in the project project PULSE between the 19 french ALS centers. This PULSE project (for “Pronostic valUe of biomarkers in amyotrophic Lateral Sclerosis & Endophenotypic study”) is a study of predictive factors of ALS progression based on a cohort of 1000 patients. For more information, see: http://pulse.arsla.org/

The center participates also to international clinical trials testing new drugs for ALS patienst in collaboration with major pharmaceutical companies and also in academic funded national clinical trials :

• PULSE study: Multicentric study of the Pronostic valUe of biomarkers in amyotrophic Lateral Sclerosis & Endophenotypic study multicentric clinical trial (19 centers) Protocol ID: 2013-A00969-36; ClinicalTrials.gov: NCT02360891
• French multicentric academic therapeutical trial, PHRC National 2016 : Conservative Iron Chelation by Deferiprone as a Disease-modifying Strategy for Amyotrophic Lateral Sclerosis using a Multicentre, Parallel-group, Placebo-controlled, Randomized Clinical Trial on 210 patients. FAIR-ALS-II : 900 k€, principal investigator: Devos David.
• Biotherapy « GIFT » (Growth factor preparatIon From plaTelet lysates): preclinical study and clinical development of a biotherapy based on plateled growth factors from heterologe preparations to treat neurodegenerative diseases, notably the ALS. Partnership with the Taipei Medical University, Taiwan, Pr Thierry Burnouf

Useful links

www.portail-sla.fr