Silvia Romano, Giulia Coarelli, Christian Marcotulli, Luca Leonardi, Francesca Piccolo, Maria Spadaro, Marina Frontali, Michela Ferraldeschi, Maria Chiara Vulpiani, Federica Ponzelli, Marco Salvetti, Francesco Orzi, Antonio Petrucci, Nicola Vanacore, Carlo Casali, Giovanni Ristori, The Lancet Neurology, Available online 25 August 2015, ISSN 1474-4422, http://dx.doi.org/10.1016/S1474-4422(15)00201-X.
Previous study in patients with cerebellar ataxias of different causes showed significant benefit of riluzole after 8 weeks. The study aimed to confirm these results in patients with spinocerebellar ataxia or Friedreich's ataxia in a 1-year trial.
This trial lends support to the idea that riluzole might be efficacious in the treatment of patients with cerebellar ataxia, in addition to its present indication for amyotrophic lateral sclerosis. The drug effect seems to be unaffected by adjustment for the different clinical forms of ataxia. The findings suggest that riluzole could eventually be used in clinical practice, but confirmatory studies on larger and disease-specific populations, for a longer observation period are needed.
Wednesday, August 26, 2015
Rare inherited diseases merit disease-specific trials
Alexandra Durr, The Lancet Neurology, Available online 25 August 2015, ISSN 1474-4422, http://dx.doi.org/10.1016/S1474-4422(15)00217-3.
Have Been recently presented the results the trial of riluzole, the study included patients with Friedreich's ataxia, SCA1, SCA2, SCA6, SCA8 and SCA10. Cerebellar ataxia, which include a multitude of different, rare genetic entities, are a difficult set of diseases for such studies.
The clinician eager to treat patients is left with some important questions about the design of trials for rare diseases. Is it appropriate to mix different forms of ataxias in a therapeutic trial?
To take into account the large variety of known and unknown confounding factors in disease progression and treatment response, trials in rare inherited diseases should: be disease-specific, and account for genetic forms of disease.
Have Been recently presented the results the trial of riluzole, the study included patients with Friedreich's ataxia, SCA1, SCA2, SCA6, SCA8 and SCA10. Cerebellar ataxia, which include a multitude of different, rare genetic entities, are a difficult set of diseases for such studies.
The clinician eager to treat patients is left with some important questions about the design of trials for rare diseases. Is it appropriate to mix different forms of ataxias in a therapeutic trial?
To take into account the large variety of known and unknown confounding factors in disease progression and treatment response, trials in rare inherited diseases should: be disease-specific, and account for genetic forms of disease.
Compassionate use of orphan drugs
Hanna I. Hyry, Jeremy Manuel, Timothy M. Cox and Jonathan C. P. Roos. Orphanet Journal of Rare Diseases 2015, 10:100 doi:10.1186/s13023-015-0306-x
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Compelling self-interested, legal and ethical arguments can be mounted to encourage manufacturers to offer therapies on a compassionate use basis and these are often equally applicable to provision on a humanitarian aid basis. The EU’s compassionate use programmes are instrumental in ensuring continuity of access to drugs until approval and reimbursement decisions are finalised. We propose the creation of a registry of drugs offered on a compassionate use basis; further transparency would allow such programmes to be evaluated and direct patients to sources of treatment.
OPEN ACCESS
Compelling self-interested, legal and ethical arguments can be mounted to encourage manufacturers to offer therapies on a compassionate use basis and these are often equally applicable to provision on a humanitarian aid basis. The EU’s compassionate use programmes are instrumental in ensuring continuity of access to drugs until approval and reimbursement decisions are finalised. We propose the creation of a registry of drugs offered on a compassionate use basis; further transparency would allow such programmes to be evaluated and direct patients to sources of treatment.
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