1 March 2017: A plan for action on violence against children

Scared and abused young boy


Wednesday 1 March 2017 will see the unveiling of the interministerial plan for “mobilisation and action on violence against children” by Laurence Rossignol, Minister for Families, Children and Women’s Rights.

Since early this year, the news has been marked by a series of infanticides in France. Although child abuse affects children from all backgrounds, official statistics are lacking. The French National Authority for Health (HAS) recalls that over 80% of child abuse is inflicted within the family.

Anne Tursz, an Inserm Researcher and abuse specialist, participated in the review group on the conclusions of the government report, particularly on the child mortality figures and statistics in France, and on the best course of action in the event of a suspicious child death.

She conducted a study, covering the 1996-2000 period, which estimated the number of homicides of children under the age of one year at 255, compared with 17 according to official statistics, indicating the underestimation of the phenomenon in France.

This abuse specialist has published a study covering the 1996-2000 period, which indicates the underestimation of the societal phenomenon in France. In an interview granted to AFP, she underlines “the primordial role of the medical sector, from the standpoint of prevention as well as care,” and proposes the creation of an “abuse officer” role in the medical setting.

In their work titled “Enfants Maltraités” (Abused Children), published by Éditions Lavoisier, in partnership with Inserm, authors Anne Tursz and Pascale Gerbouin-Rérolle conclude :

As long as we fail to recognise the problem of abuse, or even give it a name (…), as long as we do not use validated tools to detect, in the general population (without class bias), the suffering of certain children, crushed by psychological violence for which there is no words, we continue to engage in a discourse devoid of a scientific basis (…). The philosophy of non-stigmatisation results in the neglect of thousands of children abandoned in their silence, and in the repetition, in a family, of the same serious consequences for subsequent children…

See the file “Enfants maltraités. Les chiffres et leur base juridique en France” (Abused children: the figures and their legal basis in France” on the Inserm website.

Sickle cell disease : remission of disease symptoms in the world’s first patient treated using gene therapy

A team led by Prof. Marina Cavazzana, working at Necker Hospital for Sick Children, AP-HP, and the Imagine Institute (AP-HP/Inserm/Paris Descartes University) performed gene therapy on a 13-year-old patient with severe sickle cell anaemia in October 2014 as part of a phase I/II clinical trial. Conducted in collaboration with Prof. Philippe Leboulch (CEA/Faculties of Medicine at Paris-Sud and Harvard Universities), who developed the vector used, and supervised the preclinical studies, this innovative treatment provided complete remission from the clinical signs of the disease, and the correction of biological signs. Results (15-month follow up after transplantation) are published in the New England Journal of Medicine on 2 March 2017, and confirm the efficacy of this new therapy of the future. 

Sickle cell disease, a serious form of chronic anaemia of genetic origin, is characterised by the production of abnormal haemoglobin and deformed (falciform or sickle-shaped) red blood cells, due to a mutation in the gene encoding β-globin. This disease is associated with very serious episodes of pain caused by vaso-occlusive crises. It also causes lesions in all the vital organs, great sensitivity to infection, iron overload and endocrine disorders. Haemoglobinopathies affect an estimated 7% of the world’s population. Among them, sickle cell disease is considered the most common, with 50 million people carrying the mutation, i.e. who are at risk of transmitting the disease or actually have it. Abnormalities in the β-globin gene, i.e. sickle cell disease and β-thalassaemia, are the most widely distributed inherited diseases in the world, more common than all other genetic diseases combined.

The clinical trial, coordinated by Prof. Marina Cavazzana*, was conducted at Necker Hospital for Sick Children, AP-HP, and the Imagine Institute.

The first phase involved taking haematopoietic stem cells, the source of all blood cell lineages, from the patient’s bone marrow. A viral vector[1] carrying a therapeutic gene, previously developed to treat ß-thalassaemia, was then introduced into these cells in order to correct them. This lentiviral vector, capable of carrying long complex segments of DNA, was developed by Prof. Philippe Leboulch**, and is produced on a large scale by the American company bluebird bio[2].

The treated cells were then reinjected intravenously into the young patient in October 2014. During his subsequent period in hospital, the adolescent then received care in the Paediatric Immunohaematology Unit at Necker Hospital for Sick Children, in collaboration with Prof. Stéphane Blanche and Dr Jean-Antoine Ribeil.

Fifteen months after transplantation with the corrected cells, the patient no longer requires blood transfusions, no longer suffers from vaso-occlusive crises, and has fully resumed his physical and academic activities. “We also note that the therapeutic protein from the vector, which strongly inhibits pathological sickling, is remarkably highly expressed and effective,” explains Prof. Philippe Leboulch.

“With this gene therapy approach, we hope to develop future clinical trials and enrol a high number of patients with sickle cell disease, in Île de France and throughout the national territory,” says Prof. Marina Cavazzana.

[1] A vector is a self-replicating molecule of DNA or RNA (plasmid, cosmid, viral DNA) into which foreign DNA is inserted, and which is then used to enable this DNA to enter a target cell.

[2] A company founded by Prof. Philippe Leboulch, and sponsor of the clinical trial.