Novartis reports tumours in nine children treated with Zolgensma, two linked to therapy

What Novartis reported

Novartis said on Friday, 6 November, that it has received nine reports of tumours in children who had previously been treated with Zolgensma since the gene therapy was first authorised in 2019. In two of those cases, doctors found indications that the vector used to deliver the therapy had become part of the patients' own DNA. The Swiss drugmaker said both children were treated and remain under medical monitoring. Zolgensma treats spinal muscular atrophy (SMA), a rare inherited disease in which nerve cells die and muscles grow progressively weaker, and it is given to children under two as a single infusion. The company said more than 6,000 patients worldwide have received the drug through clinical trials, special access programmes and routine treatment.

Where the cases occurred

Novartis did not state in its announcement in which countries the cases were found, nor how much time passed between treatment and diagnosis. Patient groups had complained before the announcement that the company was slow to pass on information about the cases. SMA Europe asked Novartis to explain what is known, what remains uncertain and what the findings could mean for children who have already been treated.

Reports received since 2019 (Novartis)9

Tumours examined in detail (SMA UK)3

Vector DNA integration found (Novartis)2

Reports received since 2019 (Novartis)

9

Tumours examined in detail (SMA UK)

3

Vector DNA integration found (Novartis)

2

Data from the article text

Detailed examination of the tumours

The British patient organisation SMA UK wrote on its website that the tumours of three of the nine children had been examined in more detail. In two of those cases, integration of vector DNA was detected. In the third, there appears to be no link with the treatment. SMA UK said the information available on the affected children is still limited and that further details from regulatory authorities are expected. Novartis said the potential risk of tumour formation through the integration of vector DNA into the genome is already listed in the prescribing information for Zolgensma.

Company and regulator response

Novartis said it had informed health authorities in both confirmed cases in good time and in an appropriate way. The company added that it continuously reviews new safety information and every reported case. The European Medicines Agency and the US Food and Drug Administration had not responded to requests for comment at the time of the announcement. No regulator has yet published its own assessment of the nine reports in the material available.

Price and patient community

Zolgensma drew attention at its launch in 2019 because of its price, which was around $2.1 million per treatment depending on country and region. At that time it was considered the world's most expensive medicine. SMA UK urged that the figures be put into perspective while more information from health authorities is awaited. The charity said families may understandably be worried by the news, while stressing that the number of reported and confirmed cases remains low compared with the more than 6,000 children who have received the treatment.