Monthly Medicines Roundup for July
1st August 2026
Interested in the reading our Monthly Medicines Roundups for July?
Click the button below to find out more:
NHS England Approves Funding for Life-Changing Cystinosis Treatment
27th July 2026
NHS England has approved funding for Procysbi, a life-changing treatment for patients in England living with cystinosis. Following years of campaigning, this decision allows patients to switch from a demanding six-hour dosing schedule to a 12-hour regimen, significantly improving quality of life and routine.
Click the button below to find out more:
Community Conference 2026
Taking place: 14th-15th November
Get your free tickets to our annual community conference.
Click the button below to learn more and get your tickets:
Metabolic Support Community Survey
10th July 2026
Help shape how we support people living with Inherited Metabolic Disorders (IMDs).
Click the button below to respond to our community survey:
Monthly Medicines Roundup for June
1st July 2026
Interested in the reading our Monthly Medicines Roundups for June?
Click the button below to find out more:
Monthly Medicines Roundup for May
1st June 2026
Interested in the reading our Monthly Medicines Roundups for May?
Click the button below to find out more:
Beverley Ladies Day
27th May 2026
The 13th Annual Ladies Day at Beverley Rugby Club raised an incredible £2,051.25 for Metabolic Support. The event brought together members of the local community for a day of fundraising, food, entertainment and rugby, while also raising awareness of IMDs and the work of the charity.
Click the button below to find out more:
Aiza's Story: MoCD
15th May 2026
Aiza was diagnosed with Molybdenum Cofactor Deficiency (MoCD), an ultra-rare genetic condition, following a stay at Great Ormond Street Hospital after early concerning symptoms. Her story is being shared to raise awareness of MoCD and the realities faced by families living with ultra-rare conditions.
Click the button below to find out more:
Freya's story: HFI
15th May 2025
Freya lives with Hereditary Fructose Intolerance (HFI). Her story highlights how early symptoms were repeatedly misunderstood, leading to leading to severe illness, frequent hospital visits, and serious concern for her wellbeing. A genetic test later confirmed HFI, and a strict fructose-free diet transformed her health.
Click the button below to read her story:
Monthly Medicines Roundup for April
1st May 2026
Interested in the reading our Monthly Medicines Roundups for April?
Click the button below to find out more:
Introducing Metabolic Support Sri Lanka
8th April 2026
Explore our collaborative initiative in Sri Lanka to improve outcomes for people living with IMDs. This page includes a report, recordings and a gallery from the inauguration of Metabolic Support Sri Lanka. 🇱🇰
Click the button below to find out more:
Brews & Views: Bereavement
22nd April 2026
Our last “Brews and Views” session centred around Bereavement. Hear from Helen, who presented at the session with information and advice about bereavement.
Click the button below to find out more:
Monthly Medicines Roundup for March
1st April 2026
Interested in the reading our Monthly Medicines Roundups for March?
Click the button below to find out more:
ERDAP 2026 and Rare Conditions
1st April 2026
Interested in what the latest iteration of the England Rare Disease Action Plan means for people living with rare diseases?
Click the button below to read our article:
Monthly Medicines Roundup for February
1st March 2026
Interested in the reading our Monthly Medicines Roundups for February.
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Our Next Chapter: Metabolic Support
Rare Disease Day (28th February 2026)
Discover the vision behind our new name and how Metabolic Support will continue to expand services, connections and advocacy for people the 1.43 million people living with IMDs globally.
Click the button below to find out more:
Travel Guide: Travelling with an IMD
18th February 2025
Sarah, our Communities Lead, sat down with Sophia, mum to two boys living with classical homocystinuria (HCU), to talk about travelling with an inherited metabolic disorder. In this conversation, Sophia shares her practical tips, honest insights and tried and tested tricks to help make travelling with a metabolic condition that little bit easier.
Click the button below watch the video:
NICE Committee Recommends Pegzilarginase for ARG1-D, Pending Final Approval
17th February 2025
Interested in a potential new treatment for ARG1-D?
Click the button below to read our article:
Monthly Medicines Roundup for January
1st February 2026
Interested in the reading our Monthly Medicines Roundups for January
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Monthly Medicines Roundup & 2026 Forecast
1st January 2026
Interested in the reading our Monthly Medicines Roundups for December and forecast for 2026?
Click the button below to find out more:
What does the Autumn Budget 2025 mean for people living with IMDs
18th December 2025
Seen the autumn budget and wondered what it means for you?
Click the button below to read our article:
The UK-US pharma trade deal and how it impacts people with IMDs
17th December 2025
We’ve published an article so you can better understand the UK-US pharmaceutical trade deal and what it means for IMDs:
Click the button below to find out more:
ABPI Spotlights Our “True Faces of Rare” Project in New Case Study
15th December 2025
ABPI have published a case study on our joint project with Chiesi UK and Ireland which promotes the use of authentic imagery of people living with rare diseases in health communications
Click the button below to find out more:
The Inequity of Rare Disease
11th December 2025
“Inequity isn’t just a moral failure – it’s a scientific one.” Discover why our system still leaves rare communities behind, and what needs to change.
Click the button below to find out more:
Monthly Medicines Roundup for November
1st December 2025
Interested in the reading our Monthly Medicines Roundups for November?
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SMC Approves Procysbi for NHS Scotland Use
10th November 2025
SMC has accepted mercaptamine (Procysbi) for use within NHSScotland.
Click the button below to read our statement:
Research Release: Lived Experience of LC-FAODs
6th November 2025
Interested in the findings of our latest research “The Lived Experience of Long Chain Fatty Acid Oxidation Disorders”.
Click the button below to find out more:
Monthly Medicines Roundup for October
1st November 2025
Interested in the reading our Monthly Medicines Roundups for October?
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MSUK Statement on MTHFR enquiries
24th October 2025
Read our statement regarding MTHFR enquiries:
Click the button below to find out more:
Read the Think Ammonia: Year One Report
Our Think Ammonia year one report is now live!
This campaign was inspired by your stories and honours the memory of 16-year-old Rohan Godhania and others who have experienced disability or death because of high ammonia. This report shares the progress made possible through collaboration and sets out the next steps to improve outcomes globally.
Read the report by clicking the button, below 👇
Research Release: The Lived Experience of Thymidine Kinase 2 deficiency
13th October 2025
Interested in the findings of our latest research “The Lived Experience of Thymidine Kinase 2 Deficiency”.
Click the button below to find out more:
Monthly Medicines Roundup for September
1st October 2025
Interested in the reading our Monthly Medicines Roundups for September?
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Update on the assessment of Triheptanoin for LC-FAODs
11th September 2025
Read our update on the assessment of Triheptanoin for LC-FAODs.
Click the button below to find out more:
What does the 10-year plan mean for IMDs?
9th September 2025
Discover what the NHS 10-year plan means for people with IMDs in our latest article.
Click the button below to find out more:
Update on Pegzilarginase for ARG-1D
4th September 2025
NICE will review pegzilarginase for ARG1D again at a committee meeting on 18 September 2025, following new evidence. A final decision is expected by 12 November 2025.
Click the button below to find out more:
Monthly Medicines Roundup for August
1st September 2025
Interested in the reading our Monthly Medicines Roundups for August?
Click the button below to find out more:
Breakthrough treatment for IMDs
22nd August 2025
Mitochrondrial donation has been used to treat mitochondrial disorders.
Click the button below to find out more:
Personalised gene editing treats an IMD
14th August 2025
CPS1 deficiency has been treated with personalised gene therapy:
Click the button below to find out more:
Monthly Medicines Roundup for July
1st August 2025
Interested in the reading our Monthly Medicines Roundups for July?
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Monthly Medicines Roundup for June
1st July 2025
Interested in the reading our Monthly Medicines Roundups for June?
Click the button below to find out more:
Update on the assessment of Pegzilarginase for treating Arginase-1 Deficiency
26th June 2025
NICE has shared an update on pegzilarginase for ARG1D. It is not currently recommended, though the decision isn’t final. A three-week consultation is open to share more evidence.
Click the button below to find out more:
Update on the assessment of Fosdenopterin for MOCD Type A
25th June 2025
We’re saddened to share that the application to provide fosdenopterin on the NHS in England has been withdrawn, and the assessment has ended. We understand this may be distressing, and we’re here for you.
Click the button below to find out more:
Government Green Paper and IMDs
11th June 2025
Read about the government’s green paper and have your say.
Click the button below to find out more:
Monthly Medicines Roundup for May
30th May 2025
Interested in the reading our Monthly Medicines Roundups for May?
Click the button below to find out more:
The Multi-Dale Challenge
30th May 2025
The Multi-Dale challenge fundraiser organised by Mike and Fiona Rivett.
Click the button below to find out more:
The Lived Experience of Arginase-1 Deficiency
29th May 2025
Read the results of our research, “The Lived Experience of Arg 1-D.”
Click the button below to find out more:
Tayyibah’s story: Argininosuccinic aciduria (ASA)
21st May 2025
Read Tayyibah’s story about life with Argininosuccinic aciduria (ASA).
Click the button below to find out more:
Your Monthly Medicines Roundup for April
1st May 2025
Interested in the reading our Monthly Medicines Roundups for April?
Click the button below to find out more:
Update on the assessment of Triheptanoin for LC-FAODs
29th April 2025
Read our update on the assessment of Triheptanoin for LC-FAODs.
Click the button below to find out more:
Your Monthly Medicines Roundup for March
31st March 2025
Interested in the reading our Monthly Medicines Roundups for March?
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MSUK statement on FRAT testing for Cerebral Folate Deficiency
7th April 2025
Read our statement on FRAT testing for Cerebral Folate Deficiency.
Click the button below to find out more:
MSUK's Living Well Statement on Proposed Benefit Changes
March 2025
What do the proposed changes to disability benefits mean to our communities?
Click the button below to read our full statement:
Community Shoutout: Julia Clamp
2025
Read how Julia is raising awareness about high ammonia in memory of her son.
Click the button below to find out more:
Your Monthly Medicines Roundup for February
28th February 2025
Interested in the reading our Monthly Medicines Roundups for February?
Click the button below to find out more:
MSUK's response to NICE HST consultation
4th February 2025
NICE’s HSTs aim to ensure fair evaluation for rare disease drugs despite limited evidence. Read our response to the HST consultation.
Click the button below to find out more:
Your Monthly Medicines Roundup for January
31st January 2025
Interested in the reading our Monthly Medicines Roundups for January?
Click the button below to find out more:
Research Release: Lived experience of MOCD A
24th January 2025
Interested in the findings of our latest research “The Lived Experience of Molybdenum Cofactor Deficiency Type A”.
Click the button below to find out more:
Update on fosdenopterin for treating MOCD A
13th January 2025
Interested in our medicines update on fosdenopterin for treating MOCD A?
Click the button below to find out more:
Your Monthly Medicines Roundup for December
6th January 2025
Interested in the reading our Monthly Medicines Roundups for December?
Click the button below to find out more:
Newborn Screening Update: Tyrosinaemia Type One
19th December 2024
Interested in hearing the latest on newborn screening for tyrosinaemia type one?
Click the button below to read more:
Your Monthly Medicines Roundup for November
2nd December 2024
Interested in the reading our Monthly Medicines Roundups for November?
Click the button below to find out more:
What does the Autumn Budget mean for IMDs?
5th November 2024
Interested in learning more about the budget?
Click the button below to find out more:
Research: Cysteamine and Cystinosis
4th November 2024
Interested in the results of our research?
Click the button below to find out more:
Your Monthly Medicines Roundup for October
1st November 2024
Interested in the reading our Monthly Medicines Roundups for October?
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Update: Fosdenopterin for the treatment of MOCD Type A
22nd October 2024
Read our latest update about the use of Fosdenopterin for the treatment of MOCD Type A on our medcicines consultatations page.
Click the button below to find out more:
First newborns enrolled in a study aiming to diagnose rare diseases early
3rd October 2024
Read our update on the Generation Study, a research project aiming to diagnose rare diseases early using Whole Genome Sequencing.
Click the button below to find out more:
Your Monthly Medicines Roundup for September 2024
1st October 2024
Interested in the reading our Monthly Medicines Roundups for September?
Click the button below to find out more:
The "Living Well" Movement
24th September 2024
Learn about our “Living Well” movement and find out how you can get involved!
Click the button below to find out more:
The Adult Rare Bone Disease Network
21st September 2024
Learn about the Adult Rare Bone Disease Network and refer cases for review:
Click the button below to find out more:
Update on fosdenopterin for MOCD Type A
19th September 2024
Learn about the current NICE position on this treatment and get involved in the process.
Click the button below to find out more:
NICE draft guidance on the treatment of ARG1d
6th September 2024
Interested in the draft guidance on pegzilarginase for the treatment of ARG1d?
Click the button below to find out more:
Your Monthly Medicines Roundup for August 2024
1st September 2024
Interested in the reading our Monthly Medicines Roundups for August?
Click the button below to find out more:
The UK NSC Explained
15th August 2024
Interested in learning how conditions are added to the newborn screening panel?
Click the button below to find out more:
Falak's Story: MMA Mut 0
12th August 2024
Hear from Falak about her experience Mut 0, the most severe form of methylmalonic acidemia
Click the button below to read the article:
Register for our conference
August 2024
Interested in attending our annual community conference at The Studio, Birmingham?
Click the button below to register for the conference:
Alex & Mark Fenwick: Climbing for MSUK
6th August 2024
Hear from Alex and Mark about their fundraiser for MSUK!
Click the button below to find out more:
Pavel: My Time at the EURORDIS Open Academy
2nd August 2024
Interested in the reading Pavel’s blog about the Open Academy?
Click the button below to read the article:
Your Monthly Medicines Roundup for July 2024
1st August 2024
Interested in the reading our Monthly Medicines Roundups for July?
Click the button below to find out more:
Metabolic Matters Your Journey: Discussing Death
30th July 2024
Read our latest edition of the Metabolic Matters magazine.
Click the button below to read this edition:
Check out the Research Ready Hub & A2M E-modules
30th July 2024
Visit the Research Ready Hub and E-Modules from MSUK
Click the button below to access the hub:
Your Monthly Medicines Roundup for June 2024
1st July 2024
Interested in the reading our Monthly Medicines Roundups for June?
Click the button below to find out more:
Your Monthly Medicines Roundup for May 2024
30th May 2024
Interested in the reading our Monthly Medicines Roundups so far?
Click the button below to find out more:
Rhiannon: Volunteering at MSUK
24th May 2024
Ever wondered what volunteering for MSUK is like?
Click the button below to find out more:
Your Monthly Medicines Roundup for April 2024
1st May 2024
Interested in the latest medicines developments for April?
Click the button below to find out more:
Your Monthly Medicines Roundup for March 2024
1st April 2024
Interested in the latest medicines developments for March?
Click the button below to find out more:
Great news for Tyrosinaemia Type One
15th March 2024
English government endorses newborn screening for HT1
Click the button below to find out more:
Your Monthly Medicines Roundup for February 2024
1st March 2024
Interested in the latest medicines developments for February?
Click the button below to find out more:
Student Voice Prize Essay on Rare Disease
6th February 2024
Amy’s essay discusses issues faced by people living with rare diseases.
Click the button below to read Amy’s Essay:
Your Monthly Medicines Roundup for January 2024
1st February 2024
Interested in the latest medicines developments for January?
Click the button below to find out more:
Our "Think Ammonia!" campaign
3rd January 2024
Interested in learning about our “Think Ammonia!” campaign?
Click the button below to visit the campaign page:
Managing leukodystrophy in employment
11th December 2023
Interested in Alex TLC’s resource for employment?
Click the button below to visit the Alex TLC information page:
We're supporting the Adult Rare Disease Bone Network
8th December 2023
Want to learn more about the adult rare bone network?
Click the button below to read more about the network:
Excipients in pharmaceutical products
7th December 2023
Learn more about excipients in pharmaceutical products.
Click the button below to read the full statement:
The Autumn Statement mean for people living with Inherited Metabolic Disorders?
29th November 2023
Interested in the government’s Autumn Statement but can’t make heads or tails of it? We’ve taken a look and have broken down the key points for people living with inherited metabolic disorders.
Interested in reading more? Click the button below:
Read our Thoughts into Action report
25th September 2023
We’ve released our Thoughts into Action report which was informed by research into identifying what good quality of life is for our communities, using a methodology that allowed our communities to speak, on their own terms, and for their stories to be meaningfully used to affect direct change.
Interested in reading our report? Click the button below:
The importance of hyperammonaemia awareness
14th September 2023
We’re supporting measures to prevent hyperammonaemia following the death of Rohan Godhania, who died as a result of consuming a protein shake whilst living with undiagnosed ornithine transcarbamylase (OTC) deficiency.
Click the button to read the more:
Meet Megan: Spotlight on the University of Essex
1st September 2023
Megan Fryer-Kelsey, a previous placement student has been featured in a national campaign highlighting the value of university!
Click the button to read the more:
We're calling for action to prevent hyperammonaemia
30th August 2023
We were contacted by Food Navigator Europe to comment on how to prevent deaths due to hyperammonaemia.
Click the button to read the article:
Genetic Testing and Insurance
23rd August 2023
The Association of British Insurers (ABI) have recently updated their consumer guide on the code for genetic testing and insurance.
Click the button to see what this means and how the code can help you:
Mental Health Matters: The Unseen Issue in Metabolics
26th July 2023
Mental health often isn’t prioritised for people living with IMDs, this needs to change.
Click the button below for our statement on mental health:
We're working against ticket office closures.
25th July 2023
MSUK have signed a joint letter from Transport for All condemning the closure of train ticket offices.
Click the button below to learn more:
We've launched our Thoughts Into Action project.
5th April 2023
We’re aiming to find out what Quality of Life is as defined by our communities.
Click the button below to learn more and to get involved.
We've released Issue 11 of Metabolic Matters!
3rd April 2023
Read our first edition of the year which delves into the London Marathon, HPP and policy.
Click the button below to learn more:
Why make accessing essential benefits a burden?
29th March 2023
The Health and Disability White Paper was supposed to fix the “broken” benefits system.
Click the button below to learn more:
New treatment for rare inherited disorder
23rd March 2023
NICE final draft guidance recommends new treatment for primary hyperoxaluria type 1 (PH1)
Click the button below to learn more:
The Spring Budget and people living with IMDs
15th March 2023
Interested in the support offered as part of the UK Government’s Spring Budget?
Click the button below to learn more:
NBS Collaborative: New hope for newborn screening
1st March 2023
We’re working towards a future in which more rare conditions are screened for in newborn screening
Click the button below to learn more:
The Cost of Living with an Inherited Metabolic Disorder
28th February 2023
Read how the current economic climate is affecting our communities in our new report.
Click the button below to learn more:
Tyrosinaemia Type One Recomended for Screening
2nd February 2023
The UK NSC has recommended that TYR1 should be added to the UK newborn screening panel
Click the button below to learn more:
A momentous milestone for people living with HPP
1st February 2023
Final Draft Guidance Recommends Asfotase alfa (Strensiq) for use for the treatment of Paediatric-onset HPP
Click the button below to learn more:
The England Rare Disease Action Plan
19th January 2023
Back in 2022 we launched our England Rare Disease Explainer series highlighting the priorities and actions of this plan, want to revisit them?
Click the button below to learn more:
Social Tariff for Energy Bills
17th January 2023
MSUK, along with 95 charities and patient organisations are calling upon the Chancellor of the Exchequer to introduce discounted energy bills for low-income households.
Click the button below to read more:
The Scotland Rare Disease Action Plan
12th January 2023
Interested in learning about The Scotland Rare Disease Action Plan that was launched on the 19th December 2022?
Click the button below to learn more:
The true cost of living..
12th January 2023
We recently shared our Cost-of-Living survey which aimed to understand the effects of the current economic climate on our communities.
Click the button below to read what we found about specialised diets:
The Autumn Statement and You
22nd November 2022
100% of the IMD community members we asked have been affected by the cost-of-living crisis and the cost of energy was the biggest concern.
Click the button below to read The Autumn Statement and You:
