Gastro-resistant mercaptamine, marketed as Procysbi, has been accepted for use within NHS Scotland for the treatment of nephropathic cystinosis – a rare, progressive and life-limiting condition typically diagnosed in infants and children.

The Scottish Medicines Consortium (SMC) recommendation follows a detailed appraisal process, with clinicians and patient organisations highlighting the burden of existing treatments and the potential for gastro-resistant mercaptamine to meet significant unmet needs.

Ben Reynolds, Consultant Paediatric Nephrologist at the Royal Hospital for Children, Glasgow, said: “The availability of mercaptamine bitartrate in Scotland represents an important step forward in expanding treatment choice for people living with nephropathic cystinosis. It gives clinicians greater flexibility to individualise care, while decisions should continue to be guided by each patient’s clinical profile and circumstance.”

Nephropathic cystinosis affects around one in 100,000 – 200,000 people globally and is caused by the accumulation of cystine – an amino acid – within cells, leading to tissue and organ damage, particularly in the kidneys. Until now, treatment has required multiple daily doses, often disrupting sleep, schooling and social life for children and teenagers, and placing strain on families and caregivers.

David Garzón, Senior Director, Rare Diseases at Chiesi UK and Ireland, explained: “We welcome this positive development for patients in Scotland, however we recognise that work must continue to ensure equitable access across the UK.”

Santhera Pharmaceuticals has announced positive topline results from a long-term analysis of AGAMREE (vamorolone) in patients with Duchenne muscular dystrophy (DMD), including first data from the ongoing phase 4 GUARDIAN study.

The analysis included up to 110 corticosteroid-naïve patients who began treatment between ages four and seven and continued through various access programmes.  Patients received AGAMREE for up to eight years, with a median follow-up of five years. Most remained on higher doses (4–6mg/kg/day) in real-world settings.

Patients maintained motor function over time, with efficacy comparable to standard corticosteroids. No differences were observed in subgroup analyses versus deflazacort or prednisone.

Importantly, AGAMREE showed a differentiated safety profile, with significantly fewer vertebral fractures, normal growth patterns and reduced cataract incidence. No cases of glaucoma were reported and no new safety signals emerged.

Prof Eugenio Mercuri, Professor of Pediatrics and Child Neuropsychiatry, Universita Cattolica del Sacro Cuore, explained: “These data provide important evidence that long-term treatment with vamorolone provides durable efficacy, with a substantial reduction in the risk of spine fractures and of improvement in height, in contrast to what is observed with conventional steroids.”

Prof Francesco Muntoni, Professor of Neurology, University College London, said: “These preliminary data are encouraging. In particular, it is reassuring to see that children continue to grow in height without an apparent impact on treatment efficacy.”