Medical Research



Projects funded by ELA



recherche laboratoire

Since its creation, ELA funds medical research in the field of leukodystrophies and myelin diseases. To date, 482 research projects have been funded amounting to a total of 41,4 million Euros.

Each year, with its call for research proposals, ELA invites the international scientific community to submit research projects in the field of leukodystrophies.

 


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Clinical Trials



The trials are divided into two broad categories:

Studies of new treatments

These studies test the effectiveness of experimental treatments, new combinations of drugs or new approaches to surgery, radiotherapy, etc.

Preventive studies

As its name indicates, a preventive study research how to prevent disease in people who have never contracted the disease or how to prevent a disease breaks out again. This type of study may use drugs, vitamins or vaccines.

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The launch of a clinical trial can not be conducted without a prior phase of experimentation in vitro or animal, also called preclinical phase. The experimental treatment the most promising laboratory will be selected to establish the corresponding therapeutic trial. A clinical trial is conducted in four distinct phases, each phase having a specific goal:

Phase I - This is the first drug administration in humans. This phase involves the evaluation of the tolerance of the compound and possible side effects in a small group of subjects (10 to 80 participants). This phase also allows to study the distribution and elimination of the compound in the body.

Phase II - The goal is to determine the efficacy and optimal dose of treatment while controlling the associated side effects. Treatment at this stage is given to a larger group of subjects (100-300 people).

Phase III - This phase corresponds to the study of the effectiveness of treatment on a larger scale. It occurs at least two groups of subjects simultaneously: one group receiving the test product and a control group receiving a placebo or standard treatment. Special case in diseases where the patient's life is at stake, all participants are treated with the active product. The composition of the groups should be similar in terms of age, sex, height, weight, severity and stage of the disease to allow a fair comparison. Subjects are subjected to medical examinations to measure the parameters defined by the trial protocol and verify the effectiveness of treatment. Side effects (if they exist) continue to be identified and treated if the doctor deems it necessary. At this stage, the study groups consist of 1 000-3 000. When the results show that the treatment is beneficial, permission marketing is issued by the health authorities (in France AFSSAPS). Phase III trials are usually randomized, blinded, multicenter made.

Phase IV - It represents the long-term monitoring of treatment after marketing. Its purpose is to document additional benefits detect rare side effects and late complications if any. Rare diseases: Due to the rarity of the diseases, the number of patients in different phases is reduced. Important: the average duration of a therapeutic trial is variable depending on the type of study. The average time between the start of the study and the marketing of the product used for the treatment is usually 10 years.

A legal system (in France, Huriet) is in place to inform and protect participants in a clinical trial. The protocol of the clinical trial must necessarily be subject to the approval of a committee for the protection of people (in France, CCPRB). This committee checks the value of the study, the risks / benefits expected by patients, compliance methodologies and the purchase of insurance to compensate study participants for damage.

The physician responsible for the test has an obligation to inform participants and warn of potential risks. If the subject decides to participate in the study, he signed before the start of the test letter of consent attesting to the understanding, commitment and agreement to participate in the trial. The participation of a subject in a therapeutic trial is voluntary. Legally, nothing can be done without the patient's consent. In addition, at any time, an individual may withdraw from a clinical trial for no particular reason.

A therapeutic trial can be stopped prematurely if the results show that the treatment is extremely beneficial (so as not to deprive patients receiving placebo) or when it causes side effects too dangerous. Case of clinical trials for children and adolescents Children and adolescents can participate in a study without the signed consent of their parents or legal guardian, or without their opinion, they are able to give. A negative opinion of the child or young person is refusing to consent even if the parents have a favorable opinion.

  • Why participate in a clinical trial?

Participants in a clinical trial can play an active role in their own health benefit of new treatments before they are marketed possible and help the community by investing in medical research.

  • Who can participate in a clinical trial?

Chaque essai est accompagné d'un protocole définissant les types de sujets pouvant (critères d'inclusion) ou ne pouvant pas y participer (critères d'exclusion). Ces critères sont basés sur des facteurs comme l'âge, le sexe, le type et l'avancement de la maladie, les traitements antérieurs et autres conditions médicales afin d'identifier une population de sujets homogène pouvant tolérer le traitement expérimental.

  • Who funds the trials?

The trials are extremely expensive. They may be funded by different organizations or individuals: doctors, hospitals, foundations, pharmaceutical companies and research institutions (France, INSERM, for example). ELA Foundation has decided to become more involved in clinical trials. In 2007, she will be the sponsor of a clinical trial on Canavan disease.

  • Questions to consider before participating in a clinical trial:

What is the purpose of the study? Who will participate in the study? What is the treatment used? This treatment he been tested? What is the duration of the test? Hospitalization is necessary? Who will take care of my health? My doctor? Why doctors believe that treatment will be effective? What are the benefits / risks of this treatment compared to my current treatment? What medical tests will be performed? What is their frequency and duration? Where will the examinations and consultations? What to do if a problem arises? How this study will impact my daily life? Who will bear the costs of the study? My expenses this study be supported? How do I know if the treatment is effective? Me the results be communicated? What type of long-term monitoring is planned? The patient may he continue treatment at the end of the trial? Participate in a clinical trial is an important personal decision. Before making this decision, it is recommended to read the documents submitted, request more information, talk to the doctor responsible for the testing, seek the advice of your doctor (if different from that in load test) to see family and friends and take time to reflect.

Several clinical trials for adrenoleukodystrophy, adrenomyeloneuropathy, metachromatic leukodystrophy, Krabbe disease and Pelizaeus-Merzbacher disease are being developed.

Find out here

Leukotreat



logo leukotreat

Under the coordination of Prof. Odile Boespflug-Tanguy (University of Auvergne / Université Paris Diderot, France), the European scientific community of leukodystrophies rallied around multidisciplinary project entitled “LeukoTreat – Therapeutic challenge in Leukodystrophies: Translational and ethical research Towards clinical trials “funded by the 7th framework Programme for Research and Development of the European Commission since March 2010.

The project, with 6 million over three years and includes 23 partner institutions in seven European countries, aims to promote the development of innovative therapeutic strategies for the treatment of leukodystrophies known causes (adrenoleukodystrophy, metachromatic leukodystrophy , Krabbe disease, Pelizaeus-Merzbacher disease, Canavan disease, CACH syndrome, Alexander disease).

You are a patient or family member with a patient with leukodystrophy?

You can contribute to the work of the research project by completing a questionnaire LeukoTreat whose goal is to understand your expectations in terms of information and interaction between you and the medical world in order to promote research in listening patients and their families.

Download the questionnaire

The LeukoTreat project gathers experts  :
  • teams of basic and clinical research of European renown,
  •   SMEs specialized in the development of information systems in the European project management and in the development of innovative therapeutic molecules for neurodegenerative
  •   Experts in medical ethics
  •   associations of patients with leukodystrophies

photo de groupe

 

Seven working groups were defined:

Working Group No. 1 leukodystrophies characterization for the development of therapies

Responsible for: E. BERTINI, Ospedale Pediatrico Bambino Gesu, Rome, Italie

Objective: To collect clinical information and biologiquessur leukodystrophies and sharing at European level with the medical community through a bioinformatics platform managing clinical databases, biological samples (biobank) and genetic mutations. Data will be analyzed to better understand the European level (i) the number of patients likely to benefit from these therapies (epidemiology), (ii) the natural history of the disease in order to assess more effectively a potential therapeutic effect and (iii) the effect of genetic defects on the response to treatment.

 

Working Group No. 2 biomarkers for the treatment of leukodystrophies

Manager: A. PUJOL, Fundació Privada Institut d'Investigacio Biomedica de Bellvitge, Barcelona, Spain
Objective: To determine, in biological samples collected from patients, markers (biomarkers) of the disease or its severity in order to improve the detection of patients to have a quantifiable marker for monitoring the disease or find new therapeutic targets. This work focuses on the one hand to the validation of markers already identified as potentially interesting for some leukodystrophies and secondly to identify new markers through the development of innovative technologies (lipidomics).

Working Group No. 3 pharmacological strategies to treat leukodystrophies

Responsibles for : H. WERNER, Max Planck Gesellschaft zur Foerderung der Wissenschaften e.v., Göttingen, Allemagne
Objective : evaluation :

(i) the potential of some molecules with neuroprotective properties, antioxidant, anti-stress proteins capable of eliminating abnormally formed using cellular and animal models of leukodystrophies,
(ii) of the modulation of the expression of a specific gene in order to minimize the toxic effect of the transfer to the cell,
(iii) the targeted enzyme replacement therapy in the brain.

Working Group No. 4 gene and cell therapies innovative leukodystrophies

Responsibles for : P. AUBOURG, Inserm, Paris, France
Objective : develop innovative strategies such as gene therapy and cell therapy for the greatest number of leukodystrophies known cause.

Working Group No. 5 ethical impact of therapeutic challenges in leukodystrophies

Responsibles for : G. MOUTEL, université Paris Descartes, Paris, France
Objective : determine expectations and impacts for patients with leukodystrophies known cause and their families:

(i) the development of new therapies to optimize information and communicationnécessaire the implementation of clinical trials.
(ii) their involvement as agents of clinical research
The work carried out by the laboratory of Medical Ethics at the University Paris Descartes and ELA, invite the participation of patients with leukodystrophies known cause and their families throughout Europe, these clinical trials are designed to s to send to all European patients.

Working Group No. 6 disseminating information

Responsibles for :  ELA association, France
Objectives: dissemination of information and discoveries made during the project with patients, doctors, researchers and the general public through a dedicated website, newsletters, scientific publications, events ...

Working Group No. 7 project management

Responsibles for : Auvergne University, France
Objective: the administrative management of the project and ethical issues associated with specific project information and permits patients to participate in research, clinical trials in terms of the animal.

En savoir plus:

LeukoTreat website

The Ethics Committee met for the first time on 19 March 2010 under the chairmanship of Dr Ingrid Callies. Its role is to ensure the ethical aspects during the project LeukoTreat and be a place of reflection in relation to the ethical aspects associated with leukodystrophies.

Sit in this instance:

  • Independent members

Marc Dupont, lawyer
Dr. Marie-France Mamzer nephrologist
Dr Marie-Laure Explorer, neurologist
Sylvie Seguret psychologist
Roger Picard, representing patients' association - Association Huntington Hope
Anne-Sophie Lapointe, a representative of patients' association - Association VML
Jean-Christophe Coffin, a social scientist
Béatrice Godard, sociologist
Benaroyo Lazarus, an expert in medical ethics

 

  • Members invited

Prof. Odile Boespflug Tanguy, Project Coordinator
Professor Patrick Aubourg, a member of the steering committee of the project
Dr Aurora Pujol, a member of the steering committee of the project
Marie-Louise Vendeville coordinator, paramedic reference center for rare diseases "leukodystrophies"

Under the Working Group No. 5
Dr. Gregory Moutel, deputy director of the Laboratory of Medical Ethics, University of Paris Descartes, France
Dr Nathalie Duchange expert in ethics, medical ethics, laboratory
Thomas Leclercq, PhD
Boris Loeve, PhD
Marie-Claude Blondeau, psychologist, coordinator patients / families for the project
Tracy Coutrix, representative association of patients - ELA France
Ingrid Callies, Chair of the Ethics Committee

Under the Working Group No. 6
Mikel Renteria, representing patients' association - ELA Spain
Gael de Miomandre, representing patients' association - ELA Belgium
Ella Haven, representing patients' association - association X-ALD, Netherlands
Substitutes:
Silvano Vona, representing patients' association - ELA Italy
Catherine Schorderet, representative association of patients - ELA France