Rare Disease Day 2015 Poster

Download the RDD infopack 2015

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

Rare-Disease-Day-2015 POSTER
Rare Disease Day takes place on the last day of February each year.
Watch @DES_Journal diaporama and health posters album on Flickr.

OrphaNet, portal for rare diseases and orphan drugs, includes the Diethylstilbestrol DES syndrome as rare disease ORPHA:1916.

More information

How much do you know about DES?

BPS Chemical Product linked to irregular Heartbeats at low-Dose

New ingredient in plastic bottles, receipts has same effect on lab animals as the old chemical does

BPS ingredient has same effect on lab animals hearts as the BPA chemical does… BP Girls image via David Merrett.

Exposure to bisphenol-S (BPS), an ingredient that has replaced BPA in many items, caused irregular heartbeats in female lab rats, according to the study by Hong-Sheng Wang and colleagues published this 26 February 2015. The findings were “remarkably similar—if not identical to—what we find in BPA” Wang said.

Bisphenol S (BPS) is increasingly been used as a substitute for BPA in some “bisphenol A (BPA)-free” consumer goods and in thermal papers. Wide human exposure to BPS has been reported; however, the biological and potential toxic effects of BPS are poorly understood.
Objective: To elucidate the sex-specific rapid impact of BPS in rat hearts and its underlying mechanism.

Rapid effects of BPS in rat hearts were examined using electrophysiology, confocal and conventional fluorescence imaging, and immunoblot.

In female rat hearts, acute exposure to 10-9 M BPS increased heart rate and in the presence of catecholamine-induced stress condition, markedly increased the frequency of ventricular arrhythmia events. BPS increased the incidence of arrhythmogenic triggered activities in female ventricular myocytes, and altered myocyte Ca2+ handling, particularly spontaneous Ca2+ release from the sarcoplasmic reticulum. The dose responses of BPS’ actions were inverted-U shaped. The impact of BPS on myocyte Ca2+ handling was mediated by estrogen receptor β signaling and rapid increases in the phosphorylation of key Ca2+ handling proteins including ryanodine receptor and phospholamban. The pro-arrhythmic effects of BPS were female-specific; male rat hearts were not affected by BPS at the organ, myocyte and protein levels.

Rapid exposure to low-dose BPS has pro-arrhythmic impact on female rat hearts; these effects at the organ, cellular and molecular levels are remarkably similar to those reported for BPA. Evaluation of the bioactivity and safety of BPS and other BPA analogs is necessary before they are used as BPA alternatives in consumer products.

Sources and more information
  • Chemical in BPA-Free Products Linked to Irregular Heartbeats, nationalgeographic news, FEBRUARY 25, 2015.
  • Rapid Responses and Mechanism of Action for Low-Dose Bisphenol S on ex Vivo Rat Hearts and Isolated Myocytes: Evidence of Female-Specific Proarrhythmic Effects, Environ Health Perspect; DOI:10.1289/ehp.1408679, 26 February 2015, full study PDF.

Why the EU Lobby Register still fails to deliver

EU lobby register: still failing to deliver real transparency

EU-Lobby-Register-still-fail image
New ALTER-EU report shows why the current EU lobby register is still failing to deliver real transparency. Some of the main groups actively lobbying the EU institutions did not register and too many of the register’s entries are not reliable.

This new research published January 27, 2015 by the Alliance for Lobbying Transparency and Ethics Regulation (ALTER-EU), shows how the voluntary approach to EU lobby transparency regulation fails to provide citizens with an accurate picture of the lobby scene in Brussels. Some of the main groups that are actively lobbying the EU institutions have still not registered in the EU’s Transparency Register. These include:

  • Financial lobbyists such as Standard & Poors, City of London Corporation and Credit Suisse;
  • Lobby consultancies, such as EUTOP Brussels;
  • Law firms such as Covington & Burling and Freshfields Bruckhaus Deringer;
  • Major corporations such as Electrabel, Anglo American and General Motors.

Meanwhile, too many of the register’s entries are unreliable: lobby firms and law firms fail to disclose clients – which is a clear breach of the rules for the register – or they mask their identities behind meaningless acronyms. In addition lobby spending and lobbyist numbers are often under-reported, and there are far too many implausible entries. For example:

  • Google and Novartis list more European Parliament entry passes than the total number of lobbyists they say they employ, which cannot be correct according to the register rules.
  • Goldman Sachs and Honeywell under-report their lobby expenditures as the amounts they declare are less than the amounts they have paid to lobby consultancies.
  • Meanwhile, some entries are simply absurd: BearingPoint, a professional consultancy, states that its lobby turnover is a staggering €552,795,000! [Addendum 28-01-2015: Since this report was published, BearingPoint has contacted us to clarify that the figure declared in its register entry was not, in fact, its lobbying expenses, but rather its annual turnover. Whilst this is an easy mistake to make, this example shows that there is a lack of proactive checking by the Transparency Register Secretariat that the entries are accurate and credible.]

The European Parliament, alongside transparency campaigners including ALTER-EU, have long demanded a tougher approach to EU lobby regulation. It is now time for the European Commission to take up this challenge. The revamped register currently being launched, will not significantly improve the accuracy of the lobby data (as outlined in this report) and will not enable any interested person to really know who is lobbying whom, and how much is being spent on lobbying in Brussels  – surely the key tests of any proper transparency register. Despite numerous commitments to improve the poor quality of information in the register, too little has happened and even the most obvious absurd entries have not been corrected.

The Juncker Commission is now proposing to introduce a so-called mandatory lobby register via an inter-institutional agreement. This is very misleading, as such an inter-institutional agreement would not be binding on lobbyists and thus not properly mandatory.

What is needed is a proposal for EU legislation to introduce a legally-binding EU lobby register, which would ensure that lobbyists are obliged to be fully open and honest about all their lobbying activities. This would allow the register secretariat to investigate incorrect and misleading entries, and ensure that effective sanctions can be applied in cases of breaches of the register rules. That is the only way to ensure that we know who is influencing the decisions coming out of Brussels, which affect EU citizens’ daily lives.

Sources and more information

ALTER-EU Europe’s campaign for lobbying transparencyALTER-EU Europe’s campaign for lobbying transparency
  • EU lobby register: still failing to deliver real transparency, press-releases and PDF January 27, 2015.
  • New and Improved? Why the EU Lobby Register still fails to deliver, press-releases and PDF January 27, 2015.

Feb 28 is Rare Disease Day! RDD2015 official video

Raise awareness about DES during Rare Disease Day!

#RDD2015 official video by @rarediseaseday for #RareDisease awareness

RDD2015 banner
Raise awareness about DES during Rare Disease Day ! Use tags #RDD2015 #RareDisease #RareDiseaseDay .

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

More information
Is DES a rare disease? How much do you know about DES?

Faut-il repenser le droit des victimes d’effets indésirables de médicaments?

Un colloque plurisdisciplinaire pour faire avancer le débat

Inscription obligatoire ici avant le mardi 10 mars 2015, 12h pour le colloque pluridisciplinaire du vendredi 13 mars 2015, Salle Colbert, 126 rue de l’Université, au 1er étage du Palais Bourbon.

Vidéos et Textes – Repenser le Droit des Victimes

  • (Re)Voir toutes les interventions du colloque, prescrire, 13 mars 2015.

Loi de santé et Risques des médicaments: les associations relancent le débat

Plusieurs associations de victimes et collectifs inter-associatifs se mobilisent en faveur d’une “palette de solutions” à proposer aux victimes d’effets indésirables graves de médicaments. Ils organisent un colloque pluridisciplinaire le 13 mars 2015 au Palais Bourbon, 126 rue de l’Université, à Paris : inscrivez-vous!

L’action de groupe en santé, attendue depuis longtemps, est bienvenue dans le projet de loi relatif à la santé (article 45). Cependant, des améliorations sont nécessaires.

Actions de groupe : rendre la voie contentieuse plus accessible aux victimes.

En cas de responsabilité des producteurs (faute ou défectuosité du médicament), les actions de groupe permettent à des victimes caractérisées par une grande similarité des situations de se regrouper, ce qui contribue à rééquilibrer le rapport vis-à-vis de firmes pharmaceutiques puissantes. Nous soutenons donc l’article 45 du projet de loi relatif à la santé instituant les actions de groupe en santé et participons à l’amélioration de sa rédaction. Ce projet nécessite en effet d’être largement amendé pour représenter un réel progrès pour les victimes d’effets indésirables graves qui pourraient en bénéficier.

Création d’un fonds d’indemnisation “produits de santé” spécifique : la solution pour rendre la voie amiable plus juste.

  • Lorsque la responsabilité d’un producteur d’un produit de santé à l’origine d’un dommage ne peut pas être engagée (a)
  • mais que le lien entre le médicament et un dommage est acquis (b),
  • les victimes d’effets indésirables graves de médicaments sont actuellement rarement indemnisées (c).

Notes :
a- Depuis l’application d’une directive européenne de 1985 relative aux produits défectueux (transposée en France en 1998), les firmes pharmaceutiques n’ont plus d’obligation de sécurité de résultat vis-à-vis des patients. En l’absence de faute ou quand le produit est considéré comme non défectueux (l’effet indésirable figurait dans la notice), les firmes ne sont pas considérées comme responsables. Elles peuvent aussi être exonérées de leur responsabilité par le risque de développement (le producteur
n’avait pas connaissance de l’effet indésirable au moment de sa survenue) ou par prescription de l’action (effet indésirable cancérogène ou tératogène survenant plus de 10 ans après la mise en circulation du médicament).
b- La victime doit apporter un faisceau d’éléments qui permettent de présumer qu’un produit de santé est impliqué dans son dommage. Nous proposons que l’imputabilité (relation de cause à effet entre la prise d’un médicament et la survenue d’un dommage) soit présumée lorsque l(es) effet(s) indésirable(s) sont mentionnés dans la présentation du produit en cause (notice, résumé des caractéristiques du produit). En cas de doute, celui-ci doit profiter au demandeur (la victime).
c- C’est en effet sur les victimes que repose la charge de la preuve, et elles ont des difficultés majeures à faire reconnaître l’imputabilité du médicament dans la survenue du dommage face aux experts. De plus, leurs séquelles sont souvent sousestimées, ne leur permettant pas d’atteindre le seuil de gravité très élevé requis pour être indemnisées.

Après plusieurs mois de travail en lien avec des juristes spécialisés en droit médical, les associations de victimes et les collectifs inter-associatifs signataires de ce communiqué proposent au Ministère de la santé et au gouvernement de se donner les moyens d’améliorer la situation des victimes d’effets indésirables médicamenteux. Leur proposition est simple : créer aussi, dans le projet de loi relatif à la santé, un fonds d’indemnisation “produits de santé” spécifique devant permettre aux victimes d’être indemnisées par la solidarité nationale dans la grande majorité des cas où la responsabilité d’un producteur d’un produit de santé à l’origine d’un dommage ne peut pas être engagée.

Un colloque plurisdisciplinaire pour faire avancer le débat.

Vous souhaitez mieux comprendre les difficultés auxquelles les victimes sont confrontées? Vous souhaitez avoir plus de détails quant aux modalités de fonctionnement que nous proposons pour ce fonds d’indemnisation “produits de santé” spécifique (financement, rôle de l’Office National d’Indemnisation des Accidents Médicaux)?


Dans l’Union européenne, les victimes d’effets indésirables graves de médicaments qui souhaitent obtenir réparation des préjudices subis sont confrontées à un parcours d’épreuves plus insurmontables les unes que les autres. Une meilleure reconnaissance des victimes d’effets indésirables de médicaments s’impose pour mieux répondre aux drames individuels, et contribuerait par ailleurs à davantage sensibiliser l’ensemble des acteurs de santé à la sécurité des soins. La matinée de réflexion organisée le vendredi 13 mars 2015 se propose, grâce à l’enchainement de plusieurs interventions brèves, de présenter un état des lieux de la situation des victimes ; puis de prolonger le débat en présentant des recommandations concrètes dont les législateurs seront invités à se saisir, notamment dans le cadre de la loi de santé.

Programme de la demi-journée de colloque

  • 9h00 : Accueil
  • 9h15 : Allocution d’ouverture :
    • Monsieur le député Gérard Bapt – vidéo ,
    • et Madame Stéphanie Chevallier, présidente de l’association Les Filles DES, qui animera la matinée
  • 9h30-10h : Victimes d’effets indésirables graves de médicaments : d’épreuves en épreuves.
    Interventions brèves de différentes associations de victimes:

    • Madame Sophie Le Pallec, Présidente d’Amalyste (association de soutien aux victimes de syndromes de Lyell et de Stevens-Johnson)
    • Madame Emmanuelle Brun, Vice-Présidente de Réseau DES France (association de soutien aux victimes du Distilbène) – vidéo et texte.
    • Madame Marine Martin, Présidente de l’APESAC (Association d’Aide aux Parents d’Enfants souffrant du Syndrome de l’Anti-Convulsivant, victimes d’exposition intra-utérine aux médicaments antiépileptiques, notamment au valproate de sodium)
  • 10h – 10h20 : Éléments-clés du cadre juridique en Europe : un droit très défavorable aux victimes.
    • Madame Sophie Le Pallec, Présidente d’Amalyste, membre du CLAIM (Collectif de Lutte contre les Affections Iatrogènes et Médicamenteuses)
  • 10h20 – 10h50 : Pause
  • 10h50 – 11h10 : En pratique : Deux voies d’actions pour les victimes, toutes deux insatisfaisantes:
    • La voie amiable;
    • La voie contentieuse (le plus souvent, devant les tribunaux civils)
      • Me Martine Verdier, Avocate à la Cour d’Orléans – vidéo et texte.
      • et Me Antoine Béguin, Avocat à la Cour d’Angers, conseiller de l’association Cadus (Conseil Aide Défense des Usagers de la Santé)
    Il s’agit de proposer une palette de solutions juridictionnelles et amiables permettant une meilleure reconnaissance et une meilleure réparation des dommages des victimes d’effets indésirables graves de médicaments.

    • Les actions de groupe en santé : en cas de responsabilité des producteurs (faute ou défectuosité du médicament), un réel progrès pour rendre la voie contentieuse plus accessible aux victimes
      • Intervention d’un représentant du Collectif Interassociatif Sur la Santé (CISS)*
      • ou de Me Karim Felissi, Avocat de la FNATH, l’association des accidentés de la vie (*à confirmer)
    • Un fonds d’indemnisation “produits de santé” spécifique et solidaire, géré par l’ONIAM : une voie amiable se donnant les moyens d’indemniser les victimes lorsque la responsabilité d’un producteur d’un produit de santé à l’origine d’un dommage ne peut pas être engagée (a), mais que le lien entre le médicament et un dommage est acquis
      • Intervention de Laurent Bloch, Co-Directeur de l’Institut du droit de la santé de Bordeaux
  • 11h40 – 12h30 : Questions/réponses
  • 12h30 – 12h40 : Clôture du colloque par Madame Irène Frachon, pneumologue, lanceur d’alerte benfluorex (Mediator) – vidéo ,
  • 12h40 – 13h30 : Poursuite informelle des échanges/interviews
Moyens d’accès :
  • Métro : Assemblée nationale (ligne 12), Invalides (lignes 8 et 13)
  • RER : Invalides (ligne C)
  • Bus : lignes 24, 63, 73, 83, 84, 93, 94
  • Pour toute information complémentaire, voir le site de la RATP
  • Stationnement des voitures : Parking payant des Invalides accessible depuis l’esplanade des Invalides et la rue de Constantine.
  • “Faut-il repenser le droit des victimes d’effets indésirables de médicaments?”, Prescrire, PDF.
  • Loi de santé et Risques des médicaments : les associations relancent le débat, Prescrire, PDF.

Pesticide Chlorpyrifos Risks to Workers, EPA Report

EPA is releasing an assessment for public comment on the potential for human health risk of the pesticide chlorpyrifos

EPA-background image
A pesticide used on corn and other U.S. crops poses health risks to workers who mix and apply it and also can contaminate drinking water, according to a new EPA report.

The US Environmental Protection Agency EPA is releasing an assessment of people’s risks from the pesticide chlorpyrifos for public comment. The assessment updates the June 2011 preliminary human health risk assessment based on new information including public comments. EPA factored in exposures from multiple sources and considered all populations in this revised assessment. The public comment period is expected to begin in mid-January, 2015 and will be open for 60 days.

What does EPA’s December 2014 human health risk assessment show?

This assessment shows some risks to workers who mix, load and apply chlorpyrifos pesticide products. When used in large amounts in small watersheds in certain geographic areas, chlorpyrifos also shows potential risks from drinking water. There were no additional risks from chlorpyrifos in food or exposure to bystanders and workers from airborne chlorpyrifos.

What are EPA’s next steps?

EPA is developing appropriate measures to ensure that workers that use or work around areas treated with chlorpyrifos are protected and that drinking water in vulnerable watersheds is protected.
As part of the ongoing registration review for chlorpyrifos, EPA is also assessing the ecological risks from chlorpyrifos in conjunction with the agency’s Endangered Species Protection Program; the results of the preliminary ecological risk assessment are expected later in 2015.

What is the registration status of chlorpyrifos?

Chlorpyrifos remains registered while it is undergoing registration review. Registration review ensures pesticides will not cause unreasonable adverse effects when used according to label directions and precautions and that there is a reasonable certainty of no harm from dietary and residential exposure. This revised human health risk assessment contributes to understanding how chlorpyrifos may affect humans, an important part of the registration review process.

How did EPA assess risks?

EPA assessed exposure from multiple sources including those from food, drinking water, pesticide inhalation and absorption of the pesticide through the skin for all populations, including infants, children and women of childbearing age. The assessment updates the June 2011 preliminary human health risk assessment based on new information received, including public comments and a new human response model.
This is one of the first risk assessments to employ a physiologically-based pharmacokinetic and pharmacodynamic (PBPK/PD) model. This is a mathematical model that enhances our ability to assess risk by allowing us to consider variations in a chemical’s effects on a person based on such variables as age and genetics and allows us to predict how the same dose may affect various members of a large population differently. EPA has held several meetings of the FIFRA Scientific Advisory Panels to get independent advice on the relevance and usefulness that a PBPK/PD model can provide in assessing a chemical’s risks and one specifically on PBPK/PD and chlorpyrifos.

Did EPA take into account the 10x safety factor specified under the Food Quality Protection Act to protect children?

Yes, EPA did retain the 10x factor for this risk assessment. EPA believes that the PBPK-PD model in conjunction with retention of the FQPA 10x safety factor is protective of children and other vulnerable populations.

Who is at risk for chlorpyrifos exposure?

We are concerned about some workers who mix, load and apply chlorpyrifos to agricultural and other non-residential sites. We are also concerned about workers who work around areas that are treated with chlorpyrifos, even if they are not using chlorpyrifos products as part of their jobs.

What would the signs or symptoms be for chlorpyrifos exposure?

At high enough doses chlorpyrifos can cause cholinesterase inhibition in humans; that is, it can impact the nervous system causing nausea, dizziness, confusion, and at very high exposures (e.g., accidents or major spills), respiratory paralysis and death. Anyone who exhibits these symptoms should seek immediate help from a local hospital, physician, or nearest poison control center.

Can chlorpyrifos affect wildlife?

Yes, and EPA has taken actions to help protect wildlife from chlorpyrifos exposure.
For example, many of the reported incidents of wildlife mortality associated with chlorpyrifos use were related to residential lawn and termite uses and use on golf courses. The residential uses have been eliminated, termiticide uses have been restricted, and the application rate on golf courses has been reduced. Additionally, no-spray buffers around surface water bodies, as well as rate reductions for agricultural uses further reduced the environmental burden of chlorpyrifos.
The agency is currently assessing the ecological risks for chlorpyrifos in conjunction with the agency’s Endangered Species Protection Program; the results of the preliminary ecological risk assessment are expected later in 2015.

What actions has EPA taken on chlorpyrifos?

The EPA has taken a number of actions that have limited the use of chlorpyrifos since 2000. These actions include:

  • In June 2000, the Agency eliminated all homeowner uses, except ant and roach baits in child resistant packaging.
  • In 2000, EPA required that all use of chlorpyrifos products in the United States be discontinued on tomatoes. The use on apple trees was restricted to pre-bloom and dormant applications. The grape tolerance was lowered to reflect the labeled dormant application.
  • In 2002, EPA restricted the use of chlorpyrifos on citrus and tree nuts as well other crops.
  • In 2012, EPA further limited the use of chlorpyrifos by significantly lowering pesticide application rates and creating “no-spray” buffer zones around public spaces, including recreational areas and homes.
Sources and more information
  • Revised Human Health Risk Assessment on Chlorpyrifos, EPA, January 5, 2015.
  • EPA Revised Chlorpyrifos Assessment Shows Risk to Workers,
    EPA press release, January 5, 2015.
  • EPA report finds pesticide poses risk to workers, spurs calls for ban, environmentalhealthnews, January 8, 2015.