Ultra Orphan Assessment

The Scottish Medicines Consortium (SMC) has completed its initial assessment of the evidence for the above product using the ultra-orphan framework:

Indication under review: Treatment of Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene, in ambulatory patients aged 2 years and older. The presence of a nonsense mutation in the dystrophin gene should be determined by genetic testing.

Key points:

  • Duchenne muscular dystrophy is a devastating condition resulting in a decline in function, loss of ambulation and early death due to respiratory or cardiac failure. The caring burden impacts on the whole family.

  • In the clinical trials programme, the difference in 6-minute walking distance (6MWD) favoured ataluren over placebo however the differences were generally not statistically significant. Further clinical trial data are awaited.

  • Observational data from registries generally favoured ataluren plus standard of care over standard of care alone for most outcomes relevant to disease progression, including age at loss of ambulation and measures of pulmonary function.

  • Quality of life data are limited but may suggest some improvements favouring ataluren over placebo.

  • There were a number of outstanding uncertainties in the economic analysis provided by the company relating to the method of inclusion of utilities for patients and caregivers in the model that suggest the cost-effectiveness may be substantially above that presented by the submitting company.

  • Despite a Patient Access Scheme (PAS), the treatment’s cost in relation to its health benefits remains high.



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Scottish Government Medicines Policy Branch will notify Health Boards when this medicine is available for prescribing within the ultra-orphan pathway. Meantime any requests to access treatment should be considered through local non-formulary processes.

Medicine details

Medicine name:
ataluren (Translarna)
SMC ID:
SMC2327
Indication:

Treatment of Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene, in ambulatory patients aged 2 years and older.

Pharmaceutical company
PTC Therapeutics
BNF chapter
Musculoskeletal and joint diseases
Submission type
Ultra-orphan initial assessment
Date Published
12 April 2021
Additional notes

A new approach for assessing medicines for extremely rare conditions started in October 2018. Further information is available on our ultra-orphan webpage and in the Scottish Government’s guidance.