15 November 2013 print
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Regulatory and scientific issues regarding use of foreign data in support of new orphan drug applications for approval by the FDA

The globalization of clinical research is demonstrated by the exponential increase in clinical trials conducted outside of the United States. These have been submitted to the US Food and Drug Administration (FDA) for marketing approval of new drug applications. An interesting article published in Nature written by FDA employees, discuss their experience with submissions of results from clinical trials performed outside the US in specific therapeutic areas, including orphan drugs. They also discuss the “extent of this practice, differences between the effectiveness and safety outcomes of studies conducted inside and outside the United States, and the FDA’s approach to acceptance of these trials”.

According to the authors, in the area of orphan drugs, the FDA exercises “greater regulatory flexibility” due to the rarity of the diseases in question and the difficulty of finding adequate number of patients to perform an efficient clinical trial, thus making FDA approval for orphan drugs based entirely on foreign data more likely. The authors provide a several examples where the FDA has approved drugs based completely on data gathered from countries other than US. These examples include the approval of velaglucerase alfa for type 1 Gaucher disease for which the clinical trials were conducted in five countries - Argentina, Paraguay, Israel, Russia, and Tunisia. The FDA has also approved carglumic acid for the treatment of hyperammonemia in patients with N-acetyl-glutamate synthase deficiency of the urea cycle was also based on data from from France, Germany, and the United Kingdom. Thus, the authors confirm the FDA’s eagerness on the use of cross border data from clinical trials for orphan drugs.
Consult the PubMed abstract

National & International Policy Developments
Guidance Documents and Recommendations
Scientific statement from the American Heart Association (AHA) on long-term cardiovascular toxicity in children, adolescents, and young adults who receive cancer therapy
Consult the Pubmed abstract
Circulation ; 128(17):1927-95 ; October 2013
Bioinformatics, Registries and Data Management
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
In the previous issue, OrphaNews published an interview describing the efforts of Telethon Network of Genetic Biobanks (TNGB), a non-profit association of Italian repositories. A peer reviewed article on TNGB appeared in Orphanet Journal of Rare Disease, which reports a 5-year experience of the TNGB. The authors explain that TNGB is a distinctive catalogue of biospecimens and associated data and currently catalogues more than 750 rare genetic defects. This database was created in 2008In synchronised TNGB “through the adoption of a unique, centrally coordinated, IT infrastructure, which has enabled standardisation of all the TNGB procedures and activities, creation of an updated TNGB online catalogue, based on minimal data set and controlled terminologies and finally sample access policy managed via a shared request control panel at web portal”.

The authors outline TNGB’s efforts in providing information to academia, industry and patients organisations both nationally and internationally. According to authors, “during the last 5 years national and international scientists extensively used TNGB with different purposes resulting in more than 250 scientific publications. Moreover, the involvement of patients and families, leading to the formalization of various agreements between TNGB and Patients’ Associations, has demonstrated how promoting Biobank services can be instrumental in gaining a critical mass of samples essential for research, as well as, raising awareness, trust and interest of the general public in Biobanks”.
Read the open access article

A method developed to identify a cohort of esophageal atresia patients using the Pediatric Health Information System
A study published in Journal of Pediatric Surgery described the development of a “methodology to accurately identify a cohort of patients with a rare disease, esophageal atresia and tracheoesophageal fistula (EA/TEF) in the Pediatric Health Information System (PHIS) database”. The authors identified patients with EA/TEF treated from 2001 to 2010 by chart review at two institutions and then located within the PHIS database to find ICD-9-CM coding patterns unique to EA/TEF where 207 patients were identified while the most refined PHIS strategy identified 221 patients validated by chart review at each institution. Finally the authors identified a cohort of 2977 patients with EA/TEF when this search strategy was applied to the entire PHIS database The authors provided “positive predictive value of the search which increased incrementally from 65% with using only the correct ICD-9 code to 96% with the full methodology”. Thus the authors believe that “administrative databases such as PHIS can be utilized to identify cohorts of patients with rare congenital anomalies; however, cohort development requires a systematic search strategy and validation process to ensure correct identification of patients”.
Consult the PubMed abstract

Significance of registries for furthering the cause of improving knowledge in rare diseases
In an article published in Source Code for Biology and Medicine, authors present the importance of Rare disease registries (RDRs) to improve knowledge and monitor interventions for rare diseases and dispel myths in RDR development as well as outline key criteria for robust and sustainable implementation of registries. The authors stress that if designed appropriately, patient and disease related information captured within them could become the basis for effective diagnosis and new therapies, which would greatly help in reaching the goals of International Rare Diseases Research Consortium (IRDiRC) by 2020. In this paper, the authors contend that “RDR requirements will also evolve in response to a number of factors such as changing disease definitions and diagnostic criteria, the requirement to integrate patient/disease information from advances in either biotechnology and/or phenotypying approaches, as well as the need to adapt dynamically to security and privacy concerns”.

According to the experiences of the authors, “designing a durable RDR which encompasses all the facts that will help that dramatically improves our understanding of disease processes through major advances in biotechnology and phenotyping, is a definite possibility”. The authors finally report that the data recorder in RDRs will not only help further research and development but also will cater towards improvements in clinical care policy and population-wide outcomes for all people with rare diseases.
Read the open access article

COMPASS: a tool to assess clinical evidence of orphan medicinal products
The assessment of quality of evidence in small populations is often complex while generic tools remain unfit. A study published in Orphanet Journal of Rare Diseases described the development and validation of a new tool to named COMPASS that will help in assessing the clinical evidence of the quality of Orphan Medicinal Products (OMPs,). The authors believe that this tool can be “applied to assess the quality of evidence of an OMP based on information in the registration dossier, for example by local reimbursement agencies, pharmacists or clinicians”. According to them, the tool can contribute significantly to make key decisions on reimbursement and/or treatment on “the principles of evidence-based decision making”. A draft version of the COMPASS tool, developed by the authors consists of three parts which was amended based on suggestions obtained in four rounds of expert consultation. After this, the tool was put through three rounds of validation. The authors used information provided on the Orphanet website and in European Public Assessment Report (EPAR) document of the European Medicines Agency as data sources. According to the authors, the first pilot round produced a high (92.2%) inter-rater agreement for part one of the tool and was 86.4% for part two and three. The authors believe that, the “COMPASS tool does not attempt to score or rank the quality of clinical evidence, but rather to give an outline of various, key elements with respect to quality of clinical evidence of OMP studies”.
Read the open access article

Screening and Testing
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of α-L-iduronidase (IDUA) activity. MPS I is classified into three clinical phenotypes called Hurler, Scheie, and Hurler-Scheie syndromes according to their clinical severity. Although treatments for MPS I are available, better outcomes are associated with early treatment, which suggests a need for newborn screening for MPS I. An article published in Orphanet Journal of Rare Diseases was to determine whether measuring IDUA activity in dried blood on filter paper was effective in newborn screening for MPS I. The authors conducted a newborn screening pilot program for MPS I from October 01, 2008 to April 30, 2013. This screening involved measuring IDUA activity in dried blood spots from 35,285 newborns using a fluorometric assay. The authors observed that of the 35,285 newborns screened, 19 did not pass the tests and were recalled for examination, out of which three were recalled for leukocyte IDUA enzyme activity testing. The authors reported that two of the three had deficient leukocyte IDUA activity, while DNA analyses confirmed the diagnosis of MPS I in these two newborns. Thus from this study, the authors conclude that it is feasible to use the IDUA enzyme assay for newborn screening. The authors report that the incidence of MPS I in Taiwan estimated from this study is about 1/17,643.
Read the open access article


Ethical, Legal & Social Issues
The questionable climate of the unsustainable model of orphan drugs pricing
A review published in JAMA heavily criticises the exorbitant price tags attached to orphan drugs and question the ethics behind it. The authors in this review highlight the case of Ivacaftor (Kalydeco) which was approved by, the US Food and Drug Administration for use in a subpopulation of patients with CF who carry a specific genetic mutation. According to the authors, this vital drug came into the market “through a development program that was firmly grounded and incrementally built on the many contributions made during at least 3 decades by a highly supportive community of stakeholders”. However, the promise of Ivacaftor was tempered, by its price tag – about 373 000 USD for an individual patient - an amount the vast majority of patients cannot afford. Although the authors believe that in many cases either private or federal insurers cover most of the exorbitant price for the patients, we have to still question the underlying problem – “an unsustainable pricing structure”. The authors drive home the fact that the drug manufacture –Vertex Pharmaceuticals- received substantial financial aid from governmental sources as well as from patient organisations, notwithstanding the contribution from patients who participated in the clinical trials who are now being asked to pay, making their drug price unforgivable.

The authors call for enhanced transparency from the pharmaceutical companies about how the price for a new drug is determined. They point to the unethical strategy of pricing the drug “according to what a market will bear regardless of other factors”. An improved and ethical strategy according to the authors would be for the pharmaceutical industry and its financial backers to consider “both financial return and social good, embracing the tenet of social justice”. The authors believe that the pharmaceutical industry are different from other industries as they have to adhere to a higher moral standard which makes these overpriced drugs “reinforces the public perception that maintaining profit is a primary motivating factor for a company. The authors advocate a model of “reduced profitability, particularly for lifelong therapies, is ethically responsible and institutionally plausible but will require pharmaceutical companies to develop new models and educate investors about the long-term advantage of regaining the trust of the public”.
Consult the PubMed abstract


New Syndromes

X-linked osteoporosis with fractures caused by PLS3 mutations in five families
The authors reported data from five families with X-linked osteoporosis and fractures related to pathogenic variants in the gene for plastin 3 (PLS3), providing functional evidence that PLS3 is a bone-regulatory protein.
Consult the Pubmed abstract

N Engl J Med. ; 369(16):1529-36 ; October 2013
Autism spectrum disorder, epilepsy and arthrogryposis due to mutations in SLC35A3 in eight patients
The authors identified deleterious mutations in SLC35A3 in eight patients from a large kindred, who suffered from autism spectrum disorder, arthrogryposis and epilepsy.
Consult the Pubmed abstract

J Med Genet. ; 50(11):733-9 ; November 2013
Recurrent sub-acute post-viral onset of ataxia associated with a PRF1 mutation
The authors characterised the disorder - recurrent immune-mediated neurodegeneration. They reported two sisters who presented with neurodegeneration triggered by infections, associated with a PRF1 mutation.
Consult the Pubmed abstract

Eur J Hum Genet. ; 21(11):1232-9 ; November 2013
New syndrome of macrocytic anemia and mitochondriopathy resulting from a defect in SFXN4
The authors describe an individual diagnosed at birth with macrocytic erythroid abnormalities and mitochondrial disease that could represent a new syndrome. They used exome sequencing to identify mutations in sideroflexin 4 (SFXN4).
Consult the Pubmed abstract

Am J Hum Genet. ; [Epub ahead of print] ; October 2013

New Genes

Charcot-Marie-Tooth disease type 4: should SURF1 deficiency be systematically screened in patient with childhood onset severe demyelinating neuropathy
Consult the Pubmed abstract
To read more about "Charcot-Marie-Tooth disease type 4"

Neurology ; 131(6):1611-23 ; October 2013
Common variable immunodeficiency: germline heterozygous mutations in NFKB2 implicated in the pathogenesis
Consult the Pubmed abstract
To read more about "Common variable immunodeficiency"

Am J Hum Genet. ; [Epub ahead of print] ; October 2013
Amyotrophic lateral sclerosis caused by ERBB4 mutations which disrupt the neuregulin-ErbB4 pathway
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Am J Hum Genet. ; [Epub ahead of print] ; October 2013
8q24.3 copy-number variant phenotypes (coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects) due to SCRIB and PUF60 deletions
Consult the Pubmed abstract
Am J Hum Genet. ; [Epub ahead of print] ; October 2013
Jeune syndrome and Saldino-Mainzer syndrome can be caused by defects in IFT172
Consult the Pubmed abstract
To read more about "Jeune syndrome"
To read more about "Saldino-Mainzer syndrome"

Am J Hum Genet. ; [Epub ahead of print] ; October 2013
Isolated megalencephaly and intellectual deficiency could be caused by disruption of TBC1D7
Consult the Pubmed abstract
To read more about "Isolated megalencephaly"

J Med Genet. ; 50(11):740-4 ; November 2013
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation
Consult the Pubmed abstract
To read more about "West syndrome"

J Med Genet. ; 50(11):772-5 ; November 2013
‘Salt & pepper syndrome’, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation, is linked to a homozygous mutation in ST3GAL5
Consult the Pubmed abstract
Hum Mol Genet. ; [Epub ahead of print] ; September 2013
Acute lymphoblastic leukemia associated with genetic loss of SH2B3
Consult the Pubmed abstract
To read more about "Acute lymphoblastic leukemia"

Blood ; 122(14):2425-32 ; October 2013
Diffuse large B-cell lymphoma: DNA repair genes are selectively mutated
Consult the Pubmed abstract
To read more about "Diffuse large B-cell lymphoma"

J Exp Med. ; 210(9):1729-42 ; August 2013
Short stature in patients initially classified as idiopathic short stature is due to heterozygous mutations in NPR2
Consult the Pubmed abstract
J Clin Endocrinol Metab. ; 98(10):E1636-44 ; October 2013
Giant cell arteritis: identification of the PTPN22 functional variant R620W as susceptibility genetic factor
Consult the Pubmed abstract
To read more about "Giant cell arteritis"

Ann Rheum Dis. ; 72(11):1882-6 ; November 2013
Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations
Consult the Pubmed abstract
Hum Mutat. ; 34(11):1537-46 ; November 2013

Research in Action

Clinical Research
Mesothelioma: major cancer regressions after treatment with anti-mesothelin immunotoxin SS1P together with pentostatin and cyclophosphamide
Consult the Pubmed abstract
To read more about "Mesothelioma"

Sci Transl Med. ; 5(208):208ra147 ; October 2013
Amyotrophic lateral sclerosis: dexpramipexole was well tolerated but did not differ from placebo on efficacy in a phase 3 trial
Consult the Pubmed abstract
Consult this study on Orphanet
Consult this study on Orphanet

To read more about "Amyotrophic lateral sclerosis"

Lancet Neurol. ; 12(11):1059-67 ; November 2013
Narcolepsy: pitolisant at doses up to 40 mg was efficacious on excessive daytime sleepiness compared with placebo, and well tolerated compared with modafinil
Consult the Pubmed abstract
To read more about "Narcolepsy-cataplexy"
To read more about "Narcolepsy without cataplexy"

Lancet Neurol. ; 12(11):1068-75 ; November 2013
Neurofibromatosis type 1: twelve month simvastatin treatment did not ameliorate cognitive deficits or behavioural problems in children aged 8-16 years
Consult the Pubmed abstract
To read more about "Neurofibromatosis type 1"

Lancet Neurol. ; 12(11):1076-83 ; November 2013
Brugada syndrome: study of the outcome after implantation of a cardioverter-defibrillator
Consult the Pubmed abstract
To read more about "Brugada syndrome"

Circulation ; 128(16):1739-47 ; October 2013
B-cell chronic lymphocytic leukemia: a review on treatment with ibrutinib
Consult the Pubmed abstract
To read more about "B-cell chronic lymphocytic leukemia"

Expert Opinion on Orphan Drugs ; Vol. 1, No. 11 , Pages 925-933 ; November 2013
Prader-Willi syndrome: eight years of growth hormone treatment in children counteracts obesity
Consult the Pubmed abstract
To read more about "Prader-Willi syndrome"

J Clin Endocrinol Metab. ; 98(10):4013-22 ; October 2013
Pulmonary arterial hypertension: review on the challenges in translational research
Consult the Pubmed abstract
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"
To read more about "Drug- or toxin-induced pulmonary arterial hypertension"
To read more about "Pulmonary arterial hypertension associated with another disease"

Sci Transl Med. ; 5(208):208sr5 ; October 2013
DK1-CDG syndrome: atypical presentation with epilepsy includin West syndrome
Consult the Pubmed abstract
To read more about "DK1-CDG"

Mol Genet Metab. ; 110(3):342-4 ; November 2013
22q11.2 deletion syndrome as a novel genetic risk factor for early-onset Parkinson disease
Consult the Pubmed abstract
To read more about "22q11.2 deletion syndrome"

JAMA Neurol. ; [Epub ahead of print] ; September 2013

Patient Management and Therapy
A detailed description of clinical signs and symptoms as well as current and future therapies of Niemann-Pick disease type C
Consult the Pubmed abstract
To read more about "Niemann-Pick disease type C"

Orphanet J Rare Dis. ; 8(1):166 ; October 2013
Expert Opinion on Orphan Drugs ; Vol. 1, No. 11 , Pages 915-923 ; November 2013
Systemic sclerosis: review on treatment options
Consult the Pubmed abstract
To read more about "Systemic sclerosis"

Expert Opinion on Orphan Drugs ; Vol. 1, No. 11 , Pages 851-865 ; November 2013
Gestational trophoblastic neoplasm: review on pharmacotherapy
Consult the Pubmed abstract
To read more about "Gestational trophoblastic neoplasm"

Expert Opinion on Orphan Drugs ; Vol. 1, No. 11 , Pages 877-890 ; November 2013
Erdheim-Chester disease: review on strategies and treatment alternatives
Consult the Pubmed abstract
To read more about "Erdheim-Chester disease"

Expert Opinion on Orphan Drugs ; Vol. 1, No. 11 , Pages 891-899 ; November 2013
Huntington disease: review on treatment options
Consult the Pubmed abstract
To read more about "Huntington disease"

Expert Opinion on Orphan Drugs ; Vol. 1, No. 11 , Pages 901-914 ; November 2013
Familial long QT syndrome: a clinical approach to diagnosis and therapy
Consult the Pubmed abstract
To read more about "Familial long QT syndrome"

Eur Heart J. ; 34(40):3109-16 ; October 2013
Autoinflammatory syndrome: review including taxonomic, genetic and epidemiological data, along with diagnoses and treatments
Consult the Pubmed abstract
To read more about "Autoinflammatory syndrome"

Orphanet J Rare Dis. ; 8(1):162 ; October 2013
Immunodeficiency in patients with partial oculo-cutaneous albinism: clinical, laboratory and molecular signs
Consult the Pubmed abstract
To read more about "Chédiak-Higashi syndrome"
To read more about "Griscelli disease"
To read more about "Hermansky-Pudlak syndrome"
To read more about "Hermansky-Pudlak syndrome with neutropenia"
To read more about "Hermansky-Pudlak syndrome type 9"
To read more about "Primary immunodeficiency syndrome due to p14 deficiency"

Orphanet J Rare Dis. ; 8(1):168 ; October 2013

Orphan Drugs
Regulatory News
Review providing suggestions for successful clinical development for orphan indications
Conducting clinical trials for orphan indications is challenging for the drug developer as they have to circumvent problems such as rarity of patients, regulatory restrictions as well as scarcity of scientific research on the rare disease. An article published in Expert Opinion Orphan Drugs outlines some of the main issues to consider when designing a clinical trial or clinical program for an orphan drug. The authors emphasise the importance of animal models which are often lacking for rare diseases. Having animal models not only allow how potential candidates for therapy can be studied but also it may also impact the design of clinical trials, when selecting dose and outcome measures and may preclude early application for orphan designation, since some evidence of effect, in preclinical or clinical, is generally required. The authors also underscore that many rare diseases have not been well studied with little literature on the natural course of the disease, leading to much of the ‘evidence’ to be anecdotal or case studies which makes it difficult to estimate the expected effect size of a therapy and to decide on the most appropriate duration for study. The authors call for a more thorough study of the aetiology for rare diseases. The authors also point to the need for the regulatory officials require the same level of proof of safety and efficacy for orphan drugs as for other drugs which can be complicated due to the small number of patients. The authors recommend using surrogate end points, which can be very useful during a development program, particularly for rare diseases where small available patient numbers prevent large-scale outcome trials and where the natural history of the disease may be poorly understood. Also the authors suggest that variability can also be controlled to some extent through appropriate statistical analysis methods. Another possibility would be including placebo-controlled studies that allow for crossover to a treatment intervention after a certain period of time or which provide long-term treatment follow up may alleviate concerns about having access to potentially beneficial treatments.
Access the article

Need to start the debate on how to bring down the cost of Orphan drugs
The Dutch Minister of Health recently announced that the treatment of patients with Pompe disease and Fabry disease can be continued – at least until 2016 for Fabry and 2017 for Pompe. This decision comes after a large public debate following a negative opinion from the Dutch Health Care Insurance Board. This decision came after price arrangements were made with the companies, which will not be disclosed publicly. Dr. Cees Smit, who was born with a rare disease criticises the non-transparent approach adopted during the price negotiations on Rare Disease Blogs. He believes that “the price of new medicines coming on the market, and especially those for rare diseases, is also heavily influenced by the ongoing public and governmental requirements for clinical research, authorisation and reimbursement”. He points out to the European Clinical Trials Directive which is now discussing new transparency requirements for clinical trial data and HTA is trying to obtain cost-effectiveness data for reimbursement of drugs there is not enough harmonization among the 28 European states, leading to drug companies dealing with these states individually. Dr Smit believes that “there is an urgent need for the community of patient groups, to start the debate about the large administrative burden that is reflected in the price of orphan drugs”
Political and Scientific News
Could gene therapy hold the promise of new treatment options for inherited monogenic diseases?
Due to the key developments in the field of gene therapy research, viral vectors from adenoviruses, to lentiviruses and adeno-associated viruses have greatly improved in their ability to deliver genes in association with key regulatory elements. In a review published in European Journal of Internal Medicine, the authors systematically reviewed the literature using PubMed.gov with keyword gene therapy from 1972 to March 2013 and Google search with key word gene therapy. From the literature analysis they found that advancement in gene therapy for monogenic diseases as not stopped despite earl setbacks. The authors have reviewed these advancements and believe that the questions that remain to be answered to make gene therapy an integral part of our therapeutic arsenal. They authors claim that “early clinical developments were challenged by safety problems that are now well understood and can be prevented” and has led to successful therapeutic approaches in multiple monogenic diseases, such as severe combined immunodeficiencies and haemophilia B. Finally the authors state that in 2012, the first gene therapy has been approved in Europe for the treatment of for the treatment of lipoprotein lipase deficiency and according to them, brings some hope of future achievements.
Image courtesy: Maria Kuzma-Kuzniarska (mybioscience)
Consult the PubMed abstract



SMA Europe announces its 6th international Call for SMA Research Projects
This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. The overall goal of SMA Europe is to help the dedicated international scientific and medical community in its search for therapies for SMA. Time being critical for people with SMA, preferences will be given to projects that have the greatest potential to overcome barriers to translation of advances in basic science and to accelerate the identification of effective treatments. For more information please visit the SMA Europe web site
Call for research proposal in Lowe syndrome
Lowe Syndrome Trust invites applications for research funding for Lowe Syndrome Trust. The genetic basis for Lowe Syndrome is a defective gene OCRL1 that results in the deficiency of an enzyme Phosphatidylinositol 4,5-bisphosphate-5-phosphatase (OCRL1). Lowe’s oculocerebrorenal syndrome is a disorder affecting the brain, eyes, kidneys and bones. Research funds are available of up to £100,000 in the first instance, for funding a research studentship or assistant in understanding how the enzyme deficiency leads to observed phenotype.
Previous Lowe grant recipients are also invited to apply for a continuation grant.
For further information and Application Form please contact
Lorraine Thomas, Lowe Syndrome Trust
Telephone 0207 794 8858
or download an application form via website www.lowetrust.com
email: lowetrust@gmail.com
Closing date for applications 29 November 2013

Rare Diseases Foundation's call for projects launches and supports a key step in the development of treatments for people with rare diseases
The Rare Disease Foundation is pleased to announce the launch of the call for projects "high throughput screening of molecules with therapeutic potential & rare diseases." She supports the project of French research teams by facilitating their access to technology at the highest level: the high-throughput screening. The high throughput screening allows, thanks to automation testing and analysis, identify very quickly from a large number of chemical compounds, those who may have an interest in the composition of a future drug. This call for proposals is in the will of the few to accelerate the development of treatments for the benefit of people with rare diseases Diseases Foundation. For teams interested, all the elements to respond to this call for proposals are available in "professional access" under "Landscape Financing" tab "Foundation rare diseases" Letters of Intent must be submitted no later than Thursday November 28, 2013 by e-mail at: criblage_preclinique@fondation-maladiesrares.com
Myotubular Trust - Sixth call for projects (open to international applications)
The Myotubular Trust is holding a sixth call for research projects. The trust is looking to fund further projects that will help find a cure and / or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to research bodies internationally.
The Myotubular Trust will be looking for the following types of application:

1. A project grant applied for by a Principal Investigator to fund a project for 2-3 years duration to be carried out by a Post Doctoral researcher, or PHD student.
2. A Myotubular Trust fellowship – basic science (3-4 years duration), where the scientist has identified a group that he or she wants to work with. Award is made to a named individual.
In particular the trust would like to encourage the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and / or different research institutions. The trust is also willing to consider applications which involve joint funding with other organisations. Click here for more information or email research@myotubulartrust.org
Application deadline: Friday 17th January 2014.


Courses & Educational Initiatives
1st Asia Pacific Inborn Errors of Metabolism course
Date: 09-11 January 2014
Venue: Tokyo, Japan

The 1st Asia Pacific Inborn Errors of Metabolism course is aimed at clinicians with a basic knowledge of inborn errors of metabolism who are training or working in this field. Both adult and childhood disease will be covered so it is suitable for practitioners in both areas. This course is intended to be interactive; it brings together a vast array of know-how, experts and resources to improve participants understanding of IEM in order to promote best practice in hospitals and healthcare systems For more information and to register (before November 20th), please visit www.orphan-europe-academy.com

European Cytogeneticists Association Courses
The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. Information for the 2014 course is now available. For Further details
Workshop: Implementation of clinical genetic databases
Date: 17th December 2013
Venue: Manchester, UK

This workshop will provide training for current and future implementers of accessible or shared databases for collection of actionable clinical genotype and phenotype data. Training will cover:
• Tools and resources used in the process of creating and running a database
• Standards important for databasing
• Strategies for successful planning and implementation of a database project
The workshop will include practical computer-based training and group exercises to explore the resources available and the issues relating to sustainable database implementation.
Contact kathryn.robertson@cmft.nhs.uk to register your interest.
More information can be found on the EuroGentest website (click here).


What's on Where?

5th European Symposium on Rare Anaemias
Date: 15-16 November 2013
Venue: Ferrara, Italy

The 5th European Symposium on Rare Anaemias is an activity within ENERCA project to disseminate and up-to-date knowledge on rare anaemias and, at the same time, increases their awareness. An integrated in the framework of the 5th European Symposium on Rare Anaemias, the three organizers (ENERCA, UNITED and TIF) have collaborated in setting up the 1st Italian Thalassaemia meeting for patients and health professionals in Ferrara. Deadline for abstract submission extended until 20th october 2013
For further details

EUROPLAN National Conferences Italy
Date: 15-16 November 2013
Venue: Rome, Italy

Organised by Federazione italiana malattie rare (UNIAMO)

EUROPLAN National Conferences Luxembourg
Date: 19-20 November 2013
Venue: Luxembourg

Organised by Luxembourg Alliance for Rare Diseases and Neuro Muscular Diseases (ALAN)
For further details go to www.alan.lu/alan

The International GSD Conference 2013
Date: 28-30 November 2014
Venue: Heidelberg, Germany

The International GSD Conference 2013 (IGSD13) is a scientific conference for all types of glycogen storage disease (GSD). IGSD13 is organised by the German GSD Patients Support Group, the scientific program is put together by an international advisory committee; the conference is CME accredited (Germany, Europe). The conference is open for the participation of patient association representatives and individual patients and will include contributions from patients.
For further information

EUROPLAN National Conferences Serbia
Date: 5-6 December 2013
Venue: Belgrade, Serbia

Organised by NORBS; Serbian National Organization for Rare Diseases
For further details go to www.norbs.rs>

EUROPLAN National Conferences France
Date: 13 January 2014
Venue: Paris, France

Organised by Alliance Maladies Rares
For further details go to www.alliance-maladies-rares.org

EUROPLAN National Conferences Spain
Date: 24 January 2014
Venue: Burgos, Spain

Organised by FEDER; the Spanish Alliance for Rare Diseases
For further details go to www.enfermedades-raras.org

EUROPLAN National Conferences Ireland
Date: February 2014
Venue: Dublin, Ireland

Organised by GRDO, Genetic and Rare Disorders Organisation
For further details go to www.grdo.ie

EUROPLAN National Conferences Belgium
Date: 28 February 2014
Venue: Brussels, Belgium

Organised by Belgian National Alliance for Rare Diseases
For further details go to radiorg.be

19th Congress of the European Association of Hospital Pharmacists
Date: 26-28 March 2014
Venue: Barcelona, Spain

For further details

The 9th International Congress on Autoimmunity
Date: 26-30 March 2014
Venue: Nice, France

This is a prominent conference with experts in immunology, rheumatology and related fields participating. The congress will address the genetic, etiology, diagnostic, clinical aspects and novel therapies of 80 autoimmune diseases.
For further details

2014 Lymphangioleiomyomatosis International Research Conference
Date: 28-30 March 2014
Venue: Chicago, USA

The LAM Foundation will be holding its 17 Annual International Lymphangioleiomyomatosis Research Conference and Patient & Family Educational Symposium on March 28 - 30 in Chicago, IL, USA. Save the date for this informative conference
For further details

7th European Conference on Rare Diseases & Orphan Products (ECRD 2014)
Date: 8-10 May 2014
Venue: Berlin, Germany

The European Conference on Rare Diseases & Orphan Products (ECRD) promises to be an enlightening forum for rare disease stakeholders across various disciplines across in European countries. It aims to cover research, development of new treatments, healthcare, social care, information, public health and support. For further details

13th International Congress on Neuromuscular Diseases - ICNMD 2014
Date: 5-11 June 2014
Venue: Marseille, France

The XIII ICNMD is a unique opportunity, where on a 4 years basis, experts come together to share knowledge and experiences in the field of neuromuscular diseases. Physicians and scientists, involved in the diagnosis and care to the most updated research in basic mechanisms and therapeutic approaches in the theme will greatly benefit. For further details

14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
Date: 22-25 October 2014
Venue: Córdoba, Argentina

Batten disease is a common name for a group of rare, neurodegenerative genetic disorder affecting approximately 1 in 30,000 individuals. There is presently no known cure for Batten disease

Commercial events

Explaining the Price of Orphan Drugs
Date: 14-15 November 2013
Venue: Geneva, Switzerland

This commercial event will bring together orphan drug developers, European payers and HTA experts to shape industry understanding on orphan drug pricing and create stakeholder alignment when discussing the value of an orphan drug.
For Further Information

World Orphan Drug Congress 2013
Date: 14 November 2013
Venue: Geneva, Switzerland

This commercial conference and exhibition bringing together buyers, sellers and key influencers from across the orphan and rare disease industry. Having welcomed over 1000 orphan and rare disease stakeholders in only its 3 year history, the event in Europe’s logical choice for Biotech and Pharma orphan drug players who want to meet Rare Disease Networks, Patient Groups, COMP Members, HTA Experts, Regulators and Payers.
For Further Information

2nd Orphan Drugs Research & Commercialization Conference
Date: 20-21 February 2014
Venue: San Diego, US

This meeting provides a forum for all stakeholders, from researchers, industry leaders, patient advocacy organizations, and regulatory experts to gather and share different perspectives on how to best guide the field forward. The program will include presentations on the latest scientific research, such as RNAi therapeutics and gene therapy; pricing and reimbursement challenges; clinical endpoints; and much more.
For Further Information


Orphanews International, the newsletter of the European Union Committee of Experts on Rare Diseases
Orphanews International is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Jaroslaw Waligora

EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Rumen Stefanov (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), To be nominated (Poland), Alexandre Diniz (Portugal), Emilia Severin (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), To be nominated (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier, Bianca Pizzera
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Iiro Eerola, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Jaroslaw Waligora, Antoni Montserrat Moliner, Michael Huebel, Bruno Sepodes (EMA-COMP)

Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), Zsuzsanna Lengyel (Hungary), Andrew Green (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
For more information on the European Union Committee of Experts on Rare Diseases
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