Rare Diseases Are Not Rare!
Today is Rare Disease Day! This annual initiative aims to increase awareness and to generate change for the 300 million people worldwide living with a rare disease.
On Monday this week (23-Feb) I attended the FDA Rare Disease Day 2026. This was an excellent opportunity to hear directly from FDA staff who review investigational new drug applications (INDs) and submissions of data to support New Drug Applications (NDAs). There were also some people who are affected by rare diseases, some personally and some parents of children with these conditions.
There was a lot of information presented, and their slides are available on the FDA Rare Disease website. Below I capture some of the key take home messages and highlights from these sessions:
Key messages:
“Rare diseases” are not rare!
Engage with the Regulatory Agency as early as possible.
High quality results from small numbers of patients can support a licence in some situations.
It may be possible to use external data to support the results of clinical trials.
Some products may be effective for more than one rare disease type, and some genetic variations can be linked such that a platform could be created to facilitate development of more than one product.
Use Regulatory Agency advice to help design the clinical programme, including the design of individual clinical or epidemiology studies, don’t wait!
Keep ongoing dialogue with the Agency during development.
Bring them good science and meticulous records.
Listen to the patient!
Agencies have many initiatives to support innovations for the diagnosis and treatment of rare diseases: check out their websites.
FDA announced at the meeting on Monday the publication of guidance to support development of diagnostics and therapies for rare diseases, which they called the “Plausible Mechanism Framework”: click here to be taken to the site.
Those of us in the UK have already seen a major change in the regulatory approach to the clinical development and approval of products to diagnose or treat rare diseases from our Agency, MHRA: click here to be taken to the site.
This week I’ve spoken with friends and colleagues who have children with rare diseases, and while there are no treatments available for many of these conditions, I realised that even where potential treatments are available, many people may not know where to begin when looking for them. So in addition to tips above for those developing the innovations, I have created this checklist for those looking for options:
Do your own research:
Find other parents and patient groups / patient advocates.
There may be evidence that a product already licensed for some conditions could have an effect in others,
Or there may be Innovators trying to develop potential treatments for your rare disease, or similar conditions.
Speak to your Specialist Doctor:
If there is evidence to suggest that a product already licensed in your country could potentially help, discuss it with the Specialist you normally see.
It is important to consider potential interactions with medications you already take, and possible side effects.
In the UK (and some other countries) doctors are allowed to prescribe “off label” if the patient (or parent) agrees that the potential benefits outweigh the potential risks.
There may be a charge as the product is unlikely to be available on NHS in this situation. This may be very expensive.
Compassionate use request:
If it is not feasible to obtain the product through the above route, you could ask your doctor to contact the manufacturer to request compassionate use.
This may not always be possible, but some companies do have a compassionate use programme for investigational products ahead of obtaining a licence in that condition.
In this situation the company may possibly still charge a fee, and the Specialist remains responsible for monitoring the effects.
It may be possible to join a clinical trial:
If there are several people affected by the same condition you could all come together and if your Specialists are willing and qualified to, they could apply to become the Sponsors of a clinical trial.
In that situation you could all become participants in an “Investigator-sponsored study” where the manufacturer makes some of the product available (free of charge) on the basis that it will be used under controlled conditions, and high quality data would be collected on the safety and efficacy, that they could use to support approval of that product as a medicine.
Or the manufacturer may decide to Sponsor and run the trial themselves so that they can closely monitor the results.
Ultimately, there may be nothing available for some conditions, but there is great potential right now for exploring new products to diagnose and treat rare diseases. In most cases the earlier they are treated the better the chances of preventing irreversible deterioration.
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