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

December 4, 2017 updated by: Centre Hospitalier Universitaire de Pointe-a-Pitre

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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:

  1. to evaluate the presence of specific phenotypic features;
  2. to establish he prognosis of different clinical forms;
  3. 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 Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Anticipated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
70

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

  • Guadeloupe
      • Pointe-à-Pitre, Guadeloupe, 97159
        • Recruiting
        • Hospital University Center of Pointe-à-Pitre
        • Contact:
        • Contact:
        • Principal Investigator:
          • Alice DEMOLY, Neurologist
  • Martinique
      • Fort-de-France, Martinique, 97261
        • Recruiting
        • Hospital University Center of Martinique
        • Contact:
        • Contact:
        • Principal Investigator:
          • Remy BELLANCE, Neurologist

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years and older (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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).

Exclusion Criteria:

  • Patient non-affiliated to the social security scheme ;
  • in case of difficulty of monitoring patient, exclusion of the longitudinal study.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: DIAGNOSTIC
  • Allocation: NA
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
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.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
the impact of amyotrophic lateral sclerosis in Guadeloupe and Martinique
Time Frame: Through study completion, an average of 6 years
Number of new cases per year.
Through study completion, an average of 6 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Estimate prevalence of the ALS
Time Frame: 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
Through study completion, an average of 6 years
Clinical criteria of SLA
Time Frame: 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 "
Through study completion, an average of 9 years
Study the genetic factors of the ALS
Time Frame: 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.
Through study completion, an average of 9 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Centre Hospitalier Universitaire de Pointe-a-Pitre

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Study Director: Annie LANNUZEL, Professor, Neurological, Hospital University Center of Pointe-à-Pitre

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
May 13, 2014

Primary Completion (ANTICIPATED)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
May 13, 2020

Study Completion (ANTICIPATED)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
May 13, 2023

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
November 28, 2017

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
December 4, 2017

First Posted (ACTUAL)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
December 11, 2017

Study Record Updates

Last Update Posted (ACTUAL)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
December 11, 2017

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
December 4, 2017

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
November 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • RBM-PAP-2013/55

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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