No difference in between-country variability in use of newly approved orphan and non- orphan medicinal products - a pilot study

Pieter Stolk , Harald E Heemstra , Hubert GM Leufkens , Brigitte Bloechl-Daum and Eibert R Heerdink

Orphanet Journal of Rare Diseases 2009, 4:27doi:10.1186/1750-1172-4-27
Published: 14 December 2009

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Background

Regulators and payers have to strike a balance between the needs of the patient and the optimal allocation of resources. Drugs indicated for rare diseases (orphan medicines) are a special group in this context because of their often high per unit costs. Our objective in this pilot study was to determine, for drugs used in an outpatient setting, how utilisation of centrally authorised drugs varies between countries across a selection of EU member states.

Methods
We randomly selected five orphan medicines and nine other drugs that were centrally authorised in the European Union between January 2000 and November 2006. We compared utilisation of these drugs in six European Union member states: Austria, Denmark, Finland, Portugal, The Netherlands, and Sweden. Utilisation data were expressed as Defined Daily Doses per 1000 persons per year. Variability in use across countries was determined by calculating the relative standard deviation for the utilisation rates of individual drugs across countries.

Results
No association between orphan medicine status and variability in use across countries was found (P=0.52). Drugs with an orphan medicine status were more expensive and had a higher innovation score than drugs without an orphan medicine status.

Conclusions
The results show that the variability in use of orphan medicines in the different health care systems of the European Union appears to be comparable to the other newly authorised drugs that were included in the analysis. This means that, although strong heterogeneity in access may exist, this heterogeneity is not specific for drugs with an orphan status.

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Epigenetics specialists plan to edit the 'book of life'

FierceBiotech Research Newsletter, December 15, 2009

Repligen Receives Second Research Grant from the Muscular Dystrophy Association to Support Friedreich's Ataxia Preclinical Development Program

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Iron binding activity in yeast frataxin entails a trade off with stability in the α1/β1 acidic ridge region

Biochem. J. (2009) Immediate Publication, doi:10.1042/BJ20091612

Ana R. Correia, Tao Wang, Elizabeth A. Craig and Cláudio M. Gomes.
Instituto Tecnologia Química e Biológica, Oeiras 2785-572, Portugal.

Keywords: Frataxin, Friedreich’s ataxia (FRDA), progressive ataxia, cardiomyopathy, Fe-S assembly, Isu, functional regions, α1/β1 acidic ridge, β-sheet surface, iron binding region.

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Human ISCA1 Interacts with IOP1/NARFL and Functions in Both Cytosolic and Mitochondrial Iron-Sulfur Protein Biogenesis

Daisheng Song, Zheng Tu, Frank S. Lee.
From the Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104

Keywords: Iron-sulfur proteins,  IscA,  isc (iron-sulfur cluster) operon,  IscA1,  succinate dehydrogenase,  mitochondrial aconitase, cytosolic aconitase, IOP1 (iron-only hydrogenase-like protein 1)/NARFL (nuclear prelamin A recognition factor-like).

Clinical measures of dysarthria in Friedreich Ataxia

Movement Disorders, Early View (Articles online in advance of print),Published Online: 11 Dec 2009

Arunjot Singh, MS, Elizabeth Epstein, BA, Lauren M. Myers, BA, Jennifer M. Farmer, MS, David R. Lynch, MD, PhD
 Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Keywords: ataxia, sensory neuron, dysarthria, balance, clinical trial, Friedreich Ataxia (FA), speech, therapeutic monitoring.

AF4 Is a Critical Regulator of the IGF-1 Signaling Pathway during Purkinje Cell Development

The Journal of Neuroscience, December 9, 2009, 29(49):15366-15374; doi:10.1523/JNEUROSCI.5188-09.2009

Emmanuelle Bitoun,^1,2 * Mattéa J. Finelli,^1,2 * Peter L. Oliver,^1,2 Sheena Lee,¹ and Kay E. Davies^1,2
1Medical Research Council Functional Genomics Unit, and ²Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, United Kingdom

 Keywords:  insulin-like growth factor 1 (IGF-1), cerebellar ataxia,  neuronal cell death, targeted for therapy,  Purkinje cell (PC) death, cerebellum, transcriptional cofactor.

Novel Synchrotron-Based Analyses of Metal Pathology in Friedreich’s Ataxia

University of Saskatchewan Library,  Electronic Theses & Dissertations
Document Type Thesis

Popescu, Bogdan Florin GH.

Keywords: Copper, Iron, Zinc, Rapid Scanning X-ray Fluorescence Mapping, Synchrotron, Brain, Metals, Neurodegeneration, Friedreich's ataxia.

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The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich's ataxia.

J Mol Med. 2009 Dec 9.

Richardson DR, Huang ML, Whitnall M, Becker EM, Ponka P, Suryo Rahmanto Y.


Iron Metabolism and Chelation Program, Department of Pathology and Bosch Institute, Blackburn Building (D06), University of Sydney, Sydney, NSW, 2006, Australia, d.richardson@med.usyd.edu.au.

Keywords: Friedreich's ataxia, cardio- and neurodegenerative disease, frataxin, mitochondrial iron-overload, transferrin receptor-1 upregulation, ferritin, ferroportin1, mitoferrin2, iron-sulfur cluster (ISC), mitochondrial ferritin, compensatory alterations.

Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients

Gene Expression Omnibus, Series GSE11204
Experiment type Expression profiling by array, Public on Dec 08, 2009

Keywords: Friedreich's ataxia; frataxin; mitochondrial DNA damage; nuclear DNA damage; genotoxic stress