SLA-DOM: Epidemiology and Genetics of the Amyotrophic Lateral Sclerosis in the French West Indies

Sponsor

Centre Hospitalier Universitaire de Pointe-a-Pitre (Other)

Overall Status

Recruiting

CT.gov ID

NCT03367650

Collaborator

(none)

Enrollment

Locations

Arm

108

Anticipated Duration (Months)

Patients Per Site

0.3

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The diagnosis and the follow-up of the patients reached of SLA is centralized, since a few years, at the the Caribbean Reference center of the rare neurological diseases (CERCA labélisé in 2006) in Martinique and at the Unity of coverage of the neuromuscular Diseases, SLA and the rare neurological diseases (create in 2010) in Guadeloupe. Several phenotypic characteristics seemed to us to take out again data collected during the follow-up of the patients (26 in Guadeloupe, since the creation of the unity) in particular patients' high proportion of exceptionally long evolution (more than 10 years). Besides, we diagnosed several cases (10 cases in Guadeloupe since 2000) of association SLA- Parkinsonien Syndrome.

This association, considered as exceptional could establish a particular phenotypic entity which we would like to describe. We are interested also originally geographical of the patients, with the hypothesis that he could exist in the Antilles one or several geographical isolates of the disease allowing to lead a étiologique investigation in search of a possible genetic or environmental cause.

Condition or Disease	Intervention/Treatment	Phase
Amyotrophic Lateral Sclerosis	Dietary Supplement: Blood sample and environmental survey	N/A

Detailed Description

The amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis due to degeneration of motor neurons in the primary motor cortex, corticospinal pathway, brain stem and spinal cord. The incidence is estimated at 2/100 000 per year and prevalence at approximately 4/100000.

Various clinical forms are described. The disease is fatal is 3-5 years on average.

The majority of cases are sporadic and of unknown origin but 5-10% are familial and present for 20% of them, mutations in the SOD1 (21q22.11) gene. Other genes have recently been implicated in ALS. Environmental toxic factors have been extensively researched. Beta-methylamino-L-alanine (BMAA), a neurotoxic nonprotein amino acid produced by most cyanobacteria, has been proposed to be the causative agent of the ALS-Parkinsonism Complex on the island of Guam in the Pacific Ocean.

Epidemiology and clinical features of ALS have never been studied in Caribbean countries.

The main purpose of the study will be to evaluate the incidence of ALS in Guadeloupe and Martinique.

Secondary purposes will be:

to evaluate the presence of specific phenotypic features;
to establish he prognosis of different clinical forms;
to study the genes implicated in ALS and quantify theexposure to BMAA.

Since 2000, the diagnosis of ALS is made in about 20 patients per year in Guadeloupe and Martinique(for a total population of 800000 inhabitants) but the incidence and the clinical presentation of ALS in the French West Indiesare unknown.

The exceptional association of ALS and parkinsonism is regularly observed in Guadeloupe. We propose to perform a prospective descriptive and longitudinal epidemiological study to determine the incidence of ALSin the French West Indies. In parallel we will study the involvement of genetic andenvironmental toxic factors as etiological factor for this disease.

Primary outcome:

the impact of ALS in Guadeloupe and Martinique

Secondary outcomes:

Assess the clinical characteristics (presence of phenotypic features?),
the prognosis of different clinical forms study,
to establish the genetic factors of the ALS and to search potential environmental factors

Study Design

Study Type:

Interventional

Anticipated Enrollment :

70 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Intervention Model Description:

Bi-centric epidemiological prospective, cross-sectional descriptive study coupled with a longitudinal study.Bi-centric epidemiological prospective, cross-sectional descriptive study coupled with a longitudinal study.

Masking:

None (Open Label)

Primary Purpose:

Diagnostic

Official Title:

Epidemiology and Genetics of the Amyotrophic Lateral Sclerosis in the French West Indies

Actual Study Start Date :

May 13, 2014

Anticipated Primary Completion Date :

May 13, 2020

Anticipated Study Completion Date :

May 13, 2023

Arms and Interventions

Arm	Intervention/Treatment
Other: ALS's patients in Guadeloupe and Martinique We shall determine: Impact of ALS in Guadeloupe and Martinique Prevalence of the ALS in Guadeloupe and Martinique on the duration of the study The distribution of ALS various phenotypes in our population of patients. We shall collect the date of the beginning of the symptoms of the SLA, the date of diagnosis of ALS, the date of death for the same individual and the origin of the death, the weight, the size, the albumin, CRP; in order to establish the forecast of the various clinical forms, the description of the evolution of the nutritional state. Search for transfers of genes TARDBP, VCP, SOD1 known and involved in the disease Search for possible environmental factors	Dietary Supplement: Blood sample and environmental survey The intervention corresponds to a 10 ml of Blood sample and an environmental survey.

Arm

Intervention/Treatment

Other: ALS's patients in Guadeloupe and Martinique

We shall determine: Impact of ALS in Guadeloupe and Martinique Prevalence of the ALS in Guadeloupe and Martinique on the duration of the study The distribution of ALS various phenotypes in our population of patients. We shall collect the date of the beginning of the symptoms of the SLA, the date of diagnosis of ALS, the date of death for the same individual and the origin of the death, the weight, the size, the albumin, CRP; in order to establish the forecast of the various clinical forms, the description of the evolution of the nutritional state. Search for transfers of genes TARDBP, VCP, SOD1 known and involved in the disease Search for possible environmental factors

Dietary Supplement: Blood sample and environmental survey

The intervention corresponds to a 10 ml of Blood sample and an environmental survey.

Outcome Measures

Primary Outcome Measures

the impact of amyotrophic lateral sclerosis in Guadeloupe and Martinique [Through study completion, an average of 6 years]
Number of new cases per year.

Secondary Outcome Measures

Estimate prevalence of the ALS [Through study completion, an average of 6 years]
Determine the total number of case of ALS diagnosed in Guadeloupe and Martinique on the duration of the study
Clinical criteria of SLA [Through study completion, an average of 9 years]
General, neurological, digestive clinical examination and cardiorespiratory complete and the realization of the score " ALS funtional rating scale "
Study the genetic factors of the ALS [Through study completion, an average of 9 years]
Search for transfers of genes TARDBP, VCP, SOD1: According to the genealogical data, we shall target the possible family forms to test at these patient's the various genes known and involved in the disease (transfers of the gene SOD1 (21q22.11), of the gene TARDBP (1p36.22) coding the protein TAR DNA-binding protein 43 (TDP-43) and of the gene VCP (9p13.3) coding for the protein Valosin Containing Protein). For the sporadic cases the analysis of these genes will be realized on the whole studied population. For the family cases the genetic study will be spread in the whole family.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Patient or third-party responsible for receiving information on the study and who signed informed consent ;
Patient age over 18 years;
Patient living in the Antilles;
Patient with ALS or SLP (primary lateral sclerosis, pure central form of ALS).