The Scottish Medicines Consortium made a key decision on November 10, 2025, to approve mercaptamine, sold as Procysbi, for treating cystinosis in Scotland. This rare genetic disorder affects about one in every 100,000 to 200,000 newborns, and the new option gives patients their first real choice in managing it.
Cystinosis leads to harmful crystal buildup in the body, starting in the kidneys and eyes before spreading to other organs. Families have long pushed for better treatments, and this approval comes after years of effort by patient groups and experts.
Understanding Cystinosis and Its Challenges
Cystinosis is a tough condition caused by a genetic flaw that lets cystine crystals pile up in cells. This buildup damages organs over time, with kidneys hit first, often leading to failure by the teenage years if not managed well. Kids and young adults face ongoing issues like growth problems, eye pain, and the need for transplants or dialysis later in life.
For decades, the main treatment has been cysteamine under the name Cystagon, taken four times a day. This schedule forces families to wake up at night for doses, and it often causes bad side effects like vomiting that make daily life harder.
The disease shows up early in infancy, and without proper care, it shortens life expectancy. Recent pushes for better options stem from stories of families struggling with the old routine, which disrupts school, work, and sleep for everyone involved.
Procysbi: A Fresh Approach to Treatment
Procysbi is a delayed release form of mercaptamine that patients take just twice a day, every 12 hours. This gastro resistant version aims to reduce stomach upset and fits better into busy lives, especially for children.
Doctors start it soon after diagnosis and keep it going for life to slow down the crystal buildup. The approval followed a long review process with four submissions over eight years, showing how hard it was to get here. Funding in Scotland should roll out within 60 days, making it available through the NHS soon.
This drug works much like the old one but with a smarter delivery system that releases the medicine gradually. Studies show it keeps cystine levels in check just as well, but patients stick to it more because of the easier schedule.
Key Benefits for Patients and Families
The shift to Procysbi brings real relief to those dealing with cystinosis. No more middle of the night wake ups means kids can sleep through the night, helping with growth and focus during the day.
Here are some main advantages:
- Twice daily dosing instead of four times, freeing up family time.
- Less vomiting and stomach issues, leading to better tolerance.
- More choice in care, letting doctors tailor it to each person’s needs.
- Potential to delay kidney problems and reduce the need for transplants.
Families report feeling empowered, as the treatment now matches their lifestyles better. One parent shared how the old drug turned evenings into battles, but this could change that dynamic completely.
To see how it stacks up, check this quick comparison:
| Feature | Procysbi (Mercaptamine) | Cystagon (Cysteamine) |
|---|---|---|
| Dosing Schedule | Every 12 hours (2x daily) | Every 6 hours (4x daily, including night) |
| Common Side Effects | Reduced nausea and vomiting | Frequent vomiting, sleep disruption |
| Form | Delayed-release capsules or granules | Immediate-release capsules |
| Adherence Potential | Higher due to convenience | Lower from frequent dosing |
| Approval in Scotland | Yes, November 2025 | Long available, but sole option before |
This table highlights why the new drug feels like a game changer for many.
Voices from the Cystinosis Community
Experts and groups close to the issue call this a big win. Alex Hutchison from the Cystinosis Foundation UK said it validates years of advocacy and lets families pick what works for them. She hopes it inspires other UK areas to follow suit.
Alison Railton at Kidney Research UK pointed out how the easier dosing supports better sleep and prevents worse kidney issues down the line. Their team worked with others to share patient stories during the review.
Laura Smith van Carroll of Metabolic Support UK, founded by cystinosis parents, praised the survey that gathered real life experiences. It helped show the SMC the daily struggles and why choice matters.
Ben Reynolds, a kidney specialist in Glasgow, noted it gives doctors tools to customize care based on each kid’s situation. David Garzon from Chiesi, the drug maker, welcomed the step but stressed the need for fair access across the whole UK.
Social media buzz from groups like Kidney Research UK shows excitement, with posts celebrating the end of limited options in Scotland.
Looking Ahead: Broader Impact and Hopes
This approval sets a strong example after Wales okayed it in 2021 and Ireland earlier. Yet England lags, creating uneven care that worries advocates about a postcode lottery in treatments.
Ongoing research into cystinosis, like new pro drugs, could bring even better options soon. For now, this move boosts quality of life and adherence, key to managing the disease long term.
With about 500 to 600 cases in the US and similar rarity elsewhere, every advance helps a small but vital group. Patient groups plan to keep pushing for nationwide access.
If you know someone affected by cystinosis or rare diseases, share this story to spread awareness. Drop a comment below on how treatments like this change lives, and consider supporting research efforts.
