European Medicines Agency (EMA) recommends Ataluren (Translarna) as a first-in-class medicine for treatment of Duchenne Muscular Dystrophy

Last Updated on

May 27, 2014 – The European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) has recommended granting a conditional marketing authorisation for Translarna (ataluren), an orphan-designated medicine for the treatment of Duchenne muscular dystrophy caused by nonsense mutations. Translarna is to be used in patients aged five years and older who are able to walk.

Duchenne muscular dystrophy is a genetic disease that gradually causes weakness and loss of muscle function. Patients with the condition lack normal dystrophin, a protein found in muscles. Because this protein helps to protect muscles from injury as muscles contract and relax, in patients with the disease the muscles become damaged and eventually stop working. There are currently no approved therapies available for this life-threatening condition and the current management of the disease is based on prevention and management of complications.

In the European Union (EU), approximately 18,600 people have Duchenne muscular dystrophy. The disease can be caused by a number of genetic abnormalities. Translarna is for use in the subgroup of patients whose disease is due to the presence of certain defects (called nonsense mutations) in the dystrophin gene, which prematurely stop the production of a normal dystrophin protein, leading to a shortened dystrophin protein that does not function properly. Translarna is thought to work in these patients by enabling the protein-making apparatus in cells to skip over the defect, allowing the cells to produce a functional dystrophin protein.

In January 2014, the CHMP originally adopted a negative opinion for Translarna, but at the request of the applicant, the CHMP started a re-examination of its opinion. Following careful consideration of all available evidence, including a re-analysis of the clinical data submitted by the company, the Committee concluded that the data available are sufficient to recommend a conditional marketing authorisation. Under the terms of the authorisation, the company will be required to provide comprehensive data from an ongoing confirmatory study.

Conditional marketing authorisation is an early access mechanism which allows the Agency to recommend marketing authorisation for medicines that address an unmet medical need for patients suffering from life-threatening diseases even if comprehensive clinical data are not yet available. The applicant for Translarna is PTC Therapeutics Limited. The company is registered as a micro-, small- or medium-sized-enterprise (SME), and as such benefited from support and incentives offered by the Agency’s SME office.

Because Translarna has an orphan designation, the Agency provided free scientific advice to the applicant during the development of the medicine. Orphan designation and the associated incentives, such as free scientific advice or ‘protocol assistance’, are among the Agency’s most important instruments to encourage the development of medicines for patients suffering from rare diseases.

The CHMP opinion on Translarna will now be sent to the European Commission for adoption of a decision on an EU-wide marketing authorisation.


About the Author
Joseph Gut - thasso Ph.D.; Professor in Pharmacology and Toxicology. Senior expert in theragenomic and personalized medicine and individualized drug safety. Senior expert in pharmaco- and toxicogenetics. Senior expert in human safety of drugs, chemicals, environmental pollutants, and dietary ingredients.

Your opinion

Comment

No comments yet

thasso: conditions

thasso: newest tweets

thasso: recent comments

thasso post: magazine

View my Flipboard Magazine.

thasso: categories

thasso: archives

thasso: simple chat

You must be a registered user to participate in this chat.

  • New CRISPR advance may solve key quandary June 2, 2020
    A mutation unique to certain cancer tumors is a potential homing beacon for safely deploying CRISPR gene editing enzymes to disarm DNA that makes cancer cells resistant to treatment, while ignoring the gene in normal cells where it's critical to healthy function, according to a new study from ChristianaCare's Gene Editing Institute in the journal […]
  • Gene discovery in fruit flies 'opens new doors' for hearing loss cure in elderly June 2, 2020
    Scientists at UCL have discovered sets of regulatory genes, which are responsible for maintaining healthy hearing. The finding, made in fruit flies, could potentially lead to treatments for age-related hearing loss (ARHL) in humans.
  • Study reveals how a master regulator of gene transcription operates June 2, 2020
    Using targeted protein degradation technology, researchers at CeMM, the Research Center for Molecular Medicine of the Austrian Academy of Sciences, set out to understand the primary role of a key regulator of transcription, the human Mediator complex. Mediator, a 30-subunit molecular machine, was believed to be a factor that is generally required for the transcription […]
  • Genetic cause of difference in sexual development uncovered June 1, 2020
    Researchers at the Francis Crick Institute, the Institut Pasteur and their clinical collaborators have identified a cause of testicular tissue developing in people with female chromosomes.
  • The interface of genomic information with the electronic health record June 1, 2020
    Advances in genetic and genomic testing technology have not only introduced the utilization of clinical genomic information into virtually every area of medical care, this testing has become an essential tool to achieve the goal of precision medicine. As genomic data become more complex, so too must the electronic health record (EHR) evolve to provide […]
  • Piecing together the Dead Sea Scrolls with DNA evidence June 2, 2020
    Piecing together the collection of more than 25,000 fragments of ancient manuscripts known as the Dead Sea Scrolls in order to understand their meaning has remained an incredibly difficult puzzle. Now, researchers reporting in the journal Cell on June 2 have used an intriguing clue to help in this effort: DNA "fingerprints" lifted from the […]
  • Bees grooming each other can boost colony immunity June 2, 2020
    Honeybees that specialise in grooming their nestmates (allogroomers) to ward off pests play a central role in the colony, finds a new UCL and University of Florence study published in Scientific Reports.
  • Extracellular vesicles play an important role in the pathology of malaria vivax June 2, 2020
    Extracellular vesicles (EVs) play a role in the pathogenesis of malaria vivax, according to a study led by researchers from the Barcelona Institute for Global Health (ISGlobal) and the Germans Trias i Pujol Health Science Research Institute (IGTP). The findings, published in Nature Communications, indicate that EVs from P. vivax patients communicate with spleen fibroblasts […]
  • When determining sex, exceptions are the rule June 2, 2020
    Thanks to new genomic data, long-held theories on sex chromosome evolution are now being tested against empirical evidence from nature -- often with surprising results.
  • Carnegie Mellon tool automatically turns math into pictures June 2, 2020
    Some people look at an equation and see a bunch of numbers and symbols; others see beauty. Thanks to a new tool created at Carnegie Mellon University, anyone can now translate the abstractions of mathematics into beautiful and instructive illustrations. The tool enables users to create diagrams simply by typing an ordinary mathematical expression and […]
Top