ERN

The 1st European Reference Networks (ERNs) Coordinators Group Meeting took place in Brussels, Belgium, on the 26th-27th of April 2017. The meeting was an initiative of the European Commission in order to set up the overall priority areas of the ERNs for 2017-2018. The meeting also addressed key issues concerning all the ERNs, including the monitoring process for the assessment of the ERNs, the cooperation and interaction of ERNs with the Board of Member States and national health systems, future calls for funding ERNs activities and legal issues, among many others. Moreover, a workshop entitled "Using standards and embedding good practices to promote interoperable data sharing in ERNs" was held during the meeting. With aim to achieve the full interoperability and compatibility of data and platforms, inside and beyond ERNs, the workshop presented various standards and tools as an inspirational guide to IT developers and ERN members. The workshop was co-hosted by RD-Action and the European Commission’s Directorate General for Health and Food Safety (DG SANTE). The 2nd ERNs Coordinators Group is scheduled to take place on June 2017.

More information: ENERCA News

NEJM logo

A case report published in the March 2 issue of the New England Journal of Medicine proves that gene replacement therapy can be a powerful curative tool for sickle cell disease (SCD) and paves the way for the design of similar strategies to treat other monogenic conditions of the haematopoietic system. Ribeil J.A. and colleagues describe the first SCD patient treated with LentiGlobin vector BB305, a lentiviral vector encoding a modified β-globin gene (βA-T87Q) that confers anti-sickling properties. The patient is a 13-year-old boy with severe SCD, who was placed on a regular red-cell transfusion regimen after failure of hydroxyurea treatment to reduce his clinical symptoms. The boy underwent myeloablation with intravenous busulfan, followed by a single infusion of gene-corrected autologous bone marrow CD34+ stem cells. The engraftment of transduced stem cells was successful, red-cell transfusion requirements ceased 3 months after gene therapy, and by 15 months of follow-up the clinical phenotype and the biological hallmarks of SCD were substantially improved. By that time a stable vector copy number was achieved, and therapeutic haemoglobin (HbA-T87Q) levels had reached 5.7 g/dL (48% of the total Hb) with a corresponding drop in sickle haemoglobin levels. Vector integration site analyses showed polyclonal reconstitution without clonal dominance. The boy did not experience adverse events related to gene therapy, and more than 15 months post-treatment has had no hospitalization or acute SCD-related events. The clinical study (HGB-205) was sponsored by bluebird bio, with principal investigator Professor Marina Cavazzana, M.D., Ph.D.

More information: Original publication

fda ema

The European Medicines Agency (EMA) and the United States Food and Drug Administration (FDA) have set up a new ‘cluster’ on rare diseases to share experiences and best practices on each other’s regulatory approach to the development of medicines for these diseases.

The agencies will exchange information on various aspects of the development and scientific evaluation of medicines for rare diseases. These include topics such as:

  1. the design of clinical trials in small populations and the use of statistical analysis methods;
  2. the selection and validation of trial endpoints, i.e. target outcomes of a trial;
  3. preclinical evidence to support development programmes;
  4. the design of post-marketing studies, in particular in the context of early access mechanisms such as EMA’s conditional marketing authorisation and FDA’s accelerated approval;
  5. risk management strategies for long-term safety issues with medicines for rare diseases.

The cluster will provide a forum for confidential exchange of draft documents, policies under development, and more detailed information supporting the scientific basis for decision making on medicine development.

More information: Press release

CooleySAnemia

The Cooley’s Anemia Foundation is accepting applications for medical research grants and fellowships in areas related to thalassemia. The awards are in 3 categories:

  1. Support for Ongoing Clinical Research in Thalassemia (Deadline: 23 Dec 16 for a letter of intend and 6 Feb 17 for invited full applicants)
    The goal of this initiative is to support investigators from all disciplines and backgrounds (MD, RN, PhD, MPH, MSW or other disciplines) with their ongoing clinical projects to address one or more of the following areas impacting patients with thalassemia, including but not limited to: cardiac issues and iron overload; fertility, pregnancy and family planning; quality of life, psychosocial impact and/or burden of disease. Funding: $40000 per year.
  2. Clinical Trials in Thalassemia Cell and Gene Therapy (Deadline: 6 Feb 17)
    To facilitate clinical trials in Cell and Gene Therapy to advance a cure for thalassemia. Both phase I (safety) and phase II (efficacy) trials are eligible for support. Funding: $60000 per year.
  3. Research Fellowships (Deadline: 6 Feb 17).
    Applications should be focused on the understanding or treatment of thalassemia or a complication that is related to thalassemia. The areas of interest include, but are not limited to, studies of globin gene regulation, globin gene transfer and expression, fetal hemoglobin production, hematopoietic stem cell research, bone marrow transplantation, iron chelation and iron overload, endocrine and cardiac disorders in thalassemia, and transfusion therapy and its complications.

More information: CAF announcement

CooleySAnemia

On September 27, the Cooley's Anemia Foundation (CAF) announced that four new CAF Medical Research Fellowships and one renewal Fellowship have been awarded for the 2016-2017 grant cycle. In addition, this year a new Clinical Research Grant was awarded to support ongoing clinical research in thalassemia. The total amount of funding for the five research Fellowships and one Clinical Research Grant for the current cycle is $202,500.

The following individuals have been awarded the fellowships:

  1. Katie Carlberg, MD, of the Children’s Hospital Oakland, is developing a noninvasive approach to prenatal diagnosis of thalassemia in her study, “SNP Discovery and Characterization of the Human β-Globin Gene for Non-Invasive Prenatal Testing for β-Hemoglobinopathies”
  2. Karen Finberg, MD, of Yale Medical School, is studying the process of how the gene NCOA4 mediates the degradation of ferritin in her study, “The Role of NCOA4 in the Regulation of Hepatic Iron Stores”
  3. Merlin Nithya Gnanapragasam, MD, PhD, of Icahn School of Medicine at Mount Sinai in New York City, is performing experiments in HuDEP-2 cells to examine the consequences of mutation of the EKLF upstream enhancer region in her project, “Genome Editing of EKLF Enhancer Elements for Fetal Hemoglobin Induction”
  4. Kim Vanuytsel, PhD, of Boston University, is studying ineffective erythropoiesis and iron regulation in beta thalassemia using induced pluripotent stem cells in her study, “Induced Pluripotent Stem Cell (Ipsc)-based Modeling of β-Thalassemia”
  5. Daniel Bauer, MD, Children’s Hospital Boston (Renewal Fellowship), is investigating how genome editing may be useful in creating greater expression of fetal hemoglobin in adult thalassemia patients in his project, “Genome Editing of β-Globin Gene Cluster Repressive Elements for β-Thalassemia”
  6. Nathawat Sibmooh, MD, PhD, of Mahidol University in Bangkok (Clinical Research Grant), is investigating the issue of immediate treatment for thalassemia patients who have developed pulmonary hypertension in his study, “Effect of inhaled, nebulized nitrite on pulmonary arterial pressure in beta-thalassemia patients with pulmonary hypertension”

More information: CAF's announcement

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