Novos tratamentos para a neurofibromatose: O que está disponível e como aceder a eles no Reino Unido

Neurofibromatosis Type 1 (NF1) is a complex genetic disorder affecting approximately one in 3,000 people worldwide. In the UK, about 25,000 people live with the condition.

NF1 often leads to the development of plexiform neurofibromas (pNFs)—tumors that can cause pain, disfigurement, and severe complications. Until recently, treatment options were limited to surgery and symptom management.

In recent years, new targeted therapies are offering better disease control and improved quality of life. The first innovation came with Koselugo (selumetinib), the first FDA-approved MEK inhibitor for NF1-related pNFs. In February 2025, the FDA also approved Gomekli (mirdametinib), marking another significant milestone in NF1 treatment.

If you're in the UK and wondering when and how you can access these new treatments for NF1, here’s what you need to know.

What are the latest treatments for NF1?

The two most recent NF1 medicines to get approval by the FDA are both MEK inhibitors. This means that they block enzymes (MEK1/2) involved in cell growth signalling. MEK1/2 are overactive in patients with NF1, which contributes to tumor cell growth. By blocking the MEK enzymes, these novel neurofibromatosis treatments aim to slow down the growth of tumor cells ¹.

Gomekli (mirdametinib): The newest NF1 medicine in 2025

Gomekli (mirdametinib) is a MEK1/2 inhibitor that targets the MAPK/ERK signaling pathway. Gomekli was approved by the FDA in February 2025, and some of the ways in which it is different from existing treatments are:

• Oral administration. Gomekli can be taken with or without food, and is available in a capsule form, as well as in tablet form for oral suspension - this is particularly suitable for children who cannot swallow a capsule.
• Approved for both adults and children. Gomekli is not only indicated for use in adult patients, but also in children aged 2 years and up.
• Good efficacy shown in clinical trials. In the Phase 2 ReNeu Trial, Gomekli showed positive results, with 62% of adults and 52% of children achieving a >50% reduction in tumor size ².

Koselugo (selumetinib): A MEK inhibitor for pediatric NF1 patients

Koselugo was the first targeted therapy approved for NF1 back in 2020. Until now, it is only approved for children aged 2 years and older. Some recently published results from the Phase 3 KOMET trial suggest that it may be an efficient treatment option for adults with neurofibromatosis type 1 as well ³. However, as of March 2025, it is not approved for that target group yet.

Since 2021, selumetinib is also approved for use in the EU, and, since 2022 -also in the UK.

Here's a quick comparison of Gomekli and Koselugo:

Are Gomekli and Koselugo available in the UK?

Koselugo (selumetinib) is available to patients in the UK, and is on the NHS ⁶.

Gomekli, on the other hand, is not available in the UK yet, nor is it approved or available in the EU. A typical EMA approval procedure takes up to 210 days from the application submission, and in Gomekli's case, no application has been submitted yet. This means that it could take years before NF1 patients in the EU and the UK can access this medicine.

Can you get Gomekli in the UK before it's locally approved?

Yes, you can. Although EMA and MHRA approvals for mirdametinib are not exactly around the corner, patients in the UK (and elsewhere) have options to access Gomekli before its official availability. One way is to join a clinical trial. Another is to get Gomekli from abroad, for your personal use.

Eis como funciona cada opção.

Participar num ensaio clínico

To get quick access to the newest neurofibromatosis treatment, you can try joining an ongoing clinical trial. To do so, you must meet the eligibility criteria. You will also need your treating doctor's support. Good to keep in mind is that a trial doesn't guarantee you will be assigned to the treatment group. You may receive placebo instead.

Eis alguns bons sítios para começar a procurar ensaios clínicos em curso:

• ClinicalTrials.gov: Esta é uma base de dados com todos os ensaios clínicos nos EUA. No entanto, alguns dos ensaios também estão abertos a participantes internacionais. De momento, estes ensaios com mirdametinib estão a recrutar doentes em todo o mundo. Pode valer a pena estar atento a eles.
• EUClinicaltrials.eu: Esta base de dados contém todos os ensaios clínicos na União Europeia. Atualmente, contém informações limitadas sobre ensaios lançados antes de 31 de janeiro de 2022. Para esses ensaios, pode consultar o Registo de Ensaios Clínicos da UE.
• myTomorrows: Esta organização apoia os doentes na procura de opções de tratamento em ensaios clínicos.
• Findmecure: A platform allowing patients to find and join clinical trials worldwide.

Get Gomekli for personal use

If a clinical trial isn't an option for you, you may be able to import Gomekli from abroad for personal use. This is allowed under the Named Patient Import regulation.

How it works:

• If Gomekli is approved in another country (e.g., the USA) before the UK, you can buy and import it legally.
• You will need a prescription from your doctor confirming that no suitable alternatives are available locally.

Need help? Our expert Medicine Access team at Everyone.org specializes in helping patients access new medicines before they are approved locally. Get in touch and we'll be happy to support you in accessing Gomekli in the UK.

Entrar em contacto

Referências:

1. Koselugo | European Medicines Agency (EMA). European Medicines Agency, Accessed 11 March 2025.
2. Mirdametinib Scores FDA Priority Review in Neurofibromatosis Type 1 With PN. Targeted Oncology, 28 August 2024.
3. Koselugo showed statistically significant and clinically meaningful objective response rate vs. placebo in adults with neurofibromatosis type 1 in global KOMET Phase III trial. AstraZeneca, 12 November 2024.
4. SpringWorks Therapeutics anuncia dados a serem apresentados na reunião anual da Sociedade Americana de Oncologia Clínica (ASCO) de 2024. SpringWorks Therapeutics, 23 de maio de 2024.
5. Koselugo® (selumetinib) | Efficacy. Koselugo HCP, Accessed 11 March 2025.
6. Selumetinib for treating symptomatic and inoperable plexiform neurofibromas associated with type 1 neurofibromatosis in children aged 3 and over. NICE, Accessed 11 March 2025.