Read-Through Agent (Premature Stop Codon Suppressor)

Ataluren

Brand names: Translarna

Adult dose

Dose: Children ≥2 years and adults: 10 mg/kg (morning), 10 mg/kg (midday), 20 mg/kg (evening). Example 70 kg adult: 700 mg, 700 mg, 1400 mg

Route: Oral (granules dissolved in water)

Frequency: 3 times daily with food

Clinical pearls

Indicated for nonsense mutation Duchenne muscular dystrophy (nmDMD) — only effective if dystrophin gene contains a premature stop codon (PTC) mutation (~10–15% of DMD patients)
Mechanism: ataluren promotes ribosomal read-through of premature stop codons → synthesis of full-length dystrophin
NICE TA420 (2016): recommended for ambulatory nmDMD aged ≥5 years
Requires genetic confirmation of nmDMD (nonsense mutation in DMD gene — whole gene sequencing or NGS panel)
Benefit appears to slow progression in ambulatory patients; effect on non-ambulatory unclear
Available through NHS England CDF (Cancer Drugs Fund — expanded indication funding)

Contraindications

Hypersensitivity to ataluren or excipients
Concomitant IV aminoglycosides (additive renal toxicity)

Side effects

Nausea, vomiting
Diarrhoea
Elevated LFTs and serum creatinine
Anaemia
Headache
Renal impairment (monitor carefully)

Interactions

IV aminoglycosides (gentamicin, amikacin) — contraindicated (additive nephrotoxicity)
Oral aminoglycosides — use with caution

Monitoring

6-minute walk test and other functional assessments every 6 months
Renal function (creatinine) at baseline and quarterly
LFTs quarterly
Blood pressure
Height, weight (growth monitoring in children)

Reference: BNF; NICE TA420 (Ataluren for treating nmDMD, 2016 updated); EMA EPAR for Translarna; Parent Project Muscular Dystrophy guidelines; https://bnf.nice.org.uk/drugs/ataluren/. Verify against your local formulary and the latest BNF before prescribing.

Curated clinical cross-links plus same-class fallbacks.

Calculators

Pathways