We are excited to announce that registration is now open for the MLD Scientific and Family Conference, which will be held at the Holiday Inn Telford from March 21st to 23rd, 2025.
If you are an MLD family, please reach out to us at admin@mldsupportuk.org.uk to receive your discount code. For all bookings, simply click the button below.
We look forward to seeing you there!
BOOK HERE
We are once again lucky enough to be able to run the Festive Family Care Packages this year. If you would like to register, please follow the complete the form below. The cut-off for registration is November 9th, not very far away so please do register as soon as possible.
Scientists, clinicians, specialists and experts from all over the World attended this prestigious event which was held this year in Porto. This years attendance was over 2800 delegates and Nicola and I were able to attend as support group representatives to showcase the work and the collaborations we are involved with. Charities are able to create a stand which not only is free but allows the charity registration to the conference including meals, networking events, access to all talks and poster presentations.
Our stand was very popular, possibly because we had pens! But that meant we were able to meet many professionals we already know well and more importantly clinicians from all over the World that see MLD patients. Our leaflets were so popular we had to source a local printshop for more copies.
We also attended the Orchard symposium which had excellent presentations centring around newborn screening for which they made an excellent case as you can see from the photographs below (with permission as they are in the public domain). The symposium was very well attended and there were many questions asked and points of view expressed.
All in all an excellent meeting.
Jackie Imrie, Chair MLD Support Association UK
On an autumnal September weekend, we packed our woolly jumpers, waterproofs and sense of adventure and headed to Bendrigg Trust. Bendrigg Trust residential activity centre is situated in an ideal spot in the UK between the Lake District and the Yorkshire Dales. It specialises in delivering high quality activity course for disabled people.
They promote inclusion, encourage independence and build self-confidence allowing people to experience opportunities they wouldn’t have dreamed possible. Over the weekend we took part in all sorts of amazing activities including canoeing, climbing, abseiling and indoor caving to name but a few.
With our little people once again showing us all how brave and inspirational they are. We had the best time having fun, spending time with friends and making memories.
Orchard Therapeutics, recently acquired by Kyowa Kirin with the goal of accelerating the delivery of new gene therapies to patients around the globe, has announced a number of updates pertaining to the advancement of universal newborn screening (NBS) for metachromatic leukodystrophy (MLD).
NBS is widely considered one of the most successful public health programs worldwide. In the U.S., approximately 1 in 500 newborns have a condition that can be diagnosed through NBS, and more than 8,000 infants have the potential to receive life-saving treatment due to this public health program annually.
MLD is an ultra-rare, rapidly progressive, irreversible and ultimately fatal neurometabolic disease that affects approximately one in 100,000 live births. It is caused by an error in the gene responsible for encoding the enzyme arylsulfatase A (ARSA) leading to neurological damage and developmental regression. In the most severe form of MLD, babies develop normally but in late infancy start to rapidly lose the ability to walk, talk and interact with the world around them. These children eventually deteriorate into a vegetative state, which may require 24-hour intensive care, and the majority pass away within five years of symptom onset, creating an enormous emotional and financial burden on the family.
Read the full Press Release
We are hoping to run an activity weekend for MLD families at Bendrigg Trust in South Cumbria from Friday 27th September to Sunday 29th September. Bendrigg specialise in fully accessible, all inclusive activity breaks for families with disabilities and special needs.
While this may be a fair distance for some, we hope by making it a full weekend it would be more worthwhile and manageable. For those who have not yet had the chance, please take a look at the Bendrigg Trust Website; there are not many organisations which offer accessible, all-inclusive activity breaks.
We would require a non-refundable payment of £45 per person (including all children), this would include accommodation, meals and activities for the whole weekend. There is a minimum number of families we would need in order to make this viable and if we are unable to meet this, your payment would of course be refunded in these circumstances.
To register your interest, please complete and submit the form below by Friday 17th May.
Since the announcement that the phase 2 trial with TAK-611 for children with Metachromatic Leukodystrophy has not met any of its primary or secondary objectives, Takeda Pharmaceuticals has been actively engaged in discussions and listening to feedback from investigators, families and the patient advocacy community regarding the programme.
A spokesperson, for Takeda said, “It is clear to us that the families of the children in the trials have expressed a sincere desire to continue receiving TAK-611. For this reason, we have taken the decision to extend the ongoing TAK-611 clinical trials (HGT-MLD-071 and SHP611-201) until further notice”. This is for children who have already participated in the trial.
During the extension of the study, Takeda will work with regulatory authorities, investigator sites and the MLD community to evaluate options for continued access, with the goal of overcoming barriers and establishing long-term access to TAK-611 that meets the treatment demands of patients and families.
The film (in five short parts) follows a young struggling couple as they contend with the thrills, spills, and exhaustion which often accompanies life with a newborn baby. Dad, (Jack Robertson, Where It Ends, BBC iPlayer, & Metroland Comedy), and Mam (Chantelle Taggart), initially decline the blood spot/”heel prick” test on behalf of their child… but as the months roll on and their challenges continue, clearly something is wrong with Baby (Cora Lily Taggart) and they eventually reconsider.
The film was created on behalf of The Newborn Screening Collaborative. John Lee Taggart, Head of Communications at rare disease charity Niemann-Pick UK (NPUK), wrote and directed the film targeting it squarely at the broader public with the humour elements hoping to provide a softer introduction to the subject to amplify empathy, understanding, and advocacy for rare families.
John writes: “… the film is in parts hilarious which is not something most would expect on this subject I’m sure! But Rob’s narration led us to leaning into the humour, rather than trying to work against it, and what we now have is something which I truly believe will help spread the charity’s message. The film is packed with information on this too often overshadowed subject, but due to the comedy and relatability of the characters… well I am hoping people tune in rather switch off… and that they finish watching wanting to get behind the campaign.”
In 2020 ArchAngel MLD Trust brought together 13 principal rare disease patient organisations (which has since grown to 16, and counting) in order to form a new UK collaborative effort, which would be later referred to as The Newborn Screening Collaborative, representing over 500 rare diseases and thousands of patients. The groups seek to work together for positive change within newborn screening in the UK and this year they announced three main priorities they would focus on, which included; Review of UK NBS policy and processes, review of existing and pipeline sources of evidence, and political engagement.
“The proof is in numbers. You come together as a collaborative and the voice gets heard more.”
Bob Stevens, CEO of the MPS Society & Chair of the Newborn Screening Collaborative
The short film is just one part of a broader campaign by The Newborn Screening Collaborative to push the subject of screening and to work towards positive progress within the current UK screening programme. Earlier this year an explainer animation was released to explore the basic history of the blood spot (“heel prick”) test and explain the motivation behind the Collaborative’s efforts, interviews with charity leaders and advocates have also been recorded to give deeper insight on the subject, and an accompanying documentary short film (also narrated by Robert Webb) is scheduled for release in early 2024. Watch this space!
A Rare Find was released on November 5th 2023. You can follow along and support the campaign at the group’s Facebook Page
A Rare Find follows a young struggling couple as they contend with the thrills, spills, and exhaustion which often accompanies life with a newborn baby. Dad, (Jack Robertson, Where It Ends, BBC iPlayer, & Metroland Comedy), and Mam (Chantelle Taggart), initially decline the blood spot/”heel prick” test on behalf of their child… but as the months roll on and their challenges continue, clearly something is wrong with Baby (Cora Lily Taggart) and they eventually reconsider.
The film was created on behalf of The Newborn Screening Collaborative. John Lee Taggart, Head of Communications at rare disease charity Niemann-Pick UK (NPUK), wrote and directed the film targeting it squarely at the broader public with the humour elements hoping to provide a softer introduction to the subject to amplify empathy, understanding, and advocacy for rare families.
John writes: “… the film is in parts hilarious which is not something most would expect on this subject I’m sure! But Rob’s narration led us to leaning into the humour, rather than trying to work against it, and what we now have is something which I truly believe will help spread the charity’s message. The film is packed with information on this too often overshadowed subject, but due to the comedy and relatability of the characters… well I am hoping people tune in rather switch off… and that they finish watching wanting to get behind the campaign.”
In 2020 ArchAngel MLD Trust brought together 13 principal rare disease patient organisations (which has since grown to 16, and counting) in order to form a new UK collaborative effort, which would be later referred to as The Newborn Screening Collaborative, representing over 500 rare diseases and thousands of patients. The groups seek to work together for positive change within newborn screening in the UK and this year they announced three main priorities they would focus on, which included; Review of UK NBS policy and processes, review of existing and pipeline sources of evidence, and political engagement.
“The proof is in numbers. You come together as a collaborative and the voice gets heard more.”
Bob Stevens, CEO of the MPS Society & Chair of the Newborn Screening Collaborative
The short film is just one part of a broader campaign by The Newborn Screening Collaborative to push the subject of screening and to work towards positive progress within the current UK screening programme. Earlier this year an explainer animation was released to explore the basic history of the blood spot (“heel prick”) test and explain the motivation behind the Collaborative’s efforts, interviews with charity leaders and advocates have also been recorded to give deeper insight on the subject, and an accompanying documentary short film (also narrated by Robert Webb) is scheduled for release in early 2024. Watch this space!
A Rare Find was released on November 5th 2023. You can follow along and support the campaign at the group’s Facebook Page
The Generation Study, a project by Genomics England, will see the genomes of 100,000 newborns sequenced to look for a specific set of rare genetic conditions that affect babies and can be acted on. Today, Genomics England have shared the provisional list of conditions that will be included when the study begins. It is important to stress that this list is provisional and will be subject to change, with conditions being removed and added as research and evidence becomes available.
Currently MLD is included on the list. However, the study will only be screening for specific variants that align with the study criteria. These criteria are:
A. There is strong evidence that the genetic variant(s) cause the condition and can be reliably detected.
B. A high proportion of individuals who have the genetic variant(s) would be expected to have symptoms that would have debilitating impact on quality of life if left undiagnosed
C. Early or pre-symptomatic intervention for the condition has been shown to lead to substantially improved outcomes in children, compared to intervention after the onset of symptoms.
D. Conditions screened for are only those for which the interventions are equitably accessible for all.
As a community we have to understand this will NOT pick up all cases of MLD and therefore there is still a great deal of work to do. However, this is certainly a very welcome step in the right direction. Further information here
Sally Tooms successfully ran the London Marathon for MLD Support Association UK. She finished in just under 5 hours – amazing! So far, she has raised £1,400 for us. We would like to say huge congratulations and many thanks for thinking of our Charity.
DONATE HERE
Sally Tooms is running the London Marathon for MLD Support Association UK. When she saw the TV coverage about Nala and Teddi and Gene Therapy she contacted us to ask if she could run for our Charity, to support families affected by MLD. I am sure we will all be watching her on TV on Sunday 23 April and cheering her on. We are all so grateful to her for her time and effort.
Sally’s training is going well and at the time of writing, is up to 17 miles and planning a 20 miler on Easter Sunday before tapering back down. Please support Sally on her fundraising page:
DONATE HERE
Niamh Hitchman is planning a Skydive to raise awareness of MLD and raise funds for MLD Support Association UK. Niamh’s little brother, James, very sadly passed away with MLD some years ago, so she is keen to help support families who are suffering now and also those who have suffered in the past. Thank you so much to Niamh – your support is very much appreciated. Niamh has set up a Just Giving page.
DONATE HERE
The UK Newborn Screening programme desperately needs urgent revision to keep up with other Western countries, many of whom screen for considerably more diseases and have a far more streamlined up to date system, which in turn gives a far more positive outlook for children affected by these associated conditions.
With this in mind, the Newborn Screening Collaborative, a collection of 13 rare disease organisations including Genetic Alliance UK, have highlighted three main priorities for 2023 which if given the correct focus will ensure we begin to get on the right track…
We will be sharing each of our main three priorities for 2023 over the course of the next few weeks, however as a Collaborative our impact and influence throughout this year and beyond will only be effective if we receive support, interaction, and engagement from YOU. So please make sure to like, share, and comment on our posts to show you are a supporter of NBS and an advocate of those who need a stronger voice.
Thanks to the National Lottery, we are delighted to confirm that the next MLD Family Funday will take place on Sunday 27 November 2022 at Twycross Zoo. We will have access to an onsite function room with buffet lunch, additional children’s entertainment and zoo admission.
This event is open to All UK MLD families. However, as we have limited spaces for this event and would kindly request that you only register if you intend taking up the offer, as it would be a shame if other families missed out on this opportunity.
For more information and to register for the funday, please complete the form below by Friday 16 October.
Twycross Zoo is set in the heart of England on the Leicestershire/Warwickshire border, only four miles from junction 11 of the M42/A42 (which links the M1 and M6), making it readily accessible from anywhere in central England. The Zoo also offers free onsite parking.
Spanning more than 80 acres, the Zoo has around 400 animals of almost 80 species to see, including many endangered animals and native species in the Zoo’s Nature Reserve. You can also take a stroll through the deep, dark wood and encounter Mouse, Fox, Owl and Snake in the Gruffalo Discovery Land.
Cafés, toilets and most animal houses are accessible by wheelchairs and there is also a Changing Places facility on site.
MLD Support Association will have sole access to the Windows to the Wild suite where a buffet lunch will be served. The suite is available to MLD families throughout the day with children’s entertainers joining us in the afternoon.
Again, as numbers are limited, we would ask that you only register if you do intend taking up the offer so as not to disappoint other families.
If you have any questions, please do drop us a message or to register complete the form below:
MLD Support Association UK is working hard to support families affected by MLD and to provide up-to-date online information to promote awareness of MLD. We also organise Conferences and Fun days, as well as campaigning for Newborn Screening. We currently need experienced, computer-literate volunteers to help us and have a particular need for the following skills:
• General Administration
• Conference Organisation
• Statutory Reporting
• Grant Applications
• Fundraising
You will be joining a small, friendly group of dedicated people who want to make a difference and all work can be carried out from home. If you are interested in joining our team, please contact: vivienne@mldsupportuk.org.uk
MLD Support Association UK is a small charity with limited resources, so we value working with The MPS Society, who offer specialist support for families affected by MLD. The rarity of MLD means that affected individuals and their families often experience difficulties accessing local support services.
Donna at The MPS Society (pictured) is an experienced Support & Advocacy Officer and works closely with families (within the UK) and associated professionals in health, social care, and education to ensure appropriate support is in place. The MPS Society operate a telephone helpline service offering emotional and practical support, providing information, guidance, and support to access disability benefits, and to navigate education, health care, and social care systems.
The Helpline number is 0345 389 9901 and is available Monday-Friday, 9am-5pm. For further information on The MPS Society, see their website.
Following the wonderful news that Gene Therapy was approved for use in England by the NHS for pre-symptomatic Late-Infantile and pre-symptomatic and mildly-symptomatic Early Juvenile MLD, we now have more exciting news! A clinical study for sufferers of pre-symptomatic and early-symptomatic sufferers of Late Juvenile MLD is now recruiting. The study is being conducted at Ospedale San Raffaele – Telethon Institute for Gene Therapy (OSR-TIGET) in Milan, Italy.
Download full details on the gene therapy study.
NEWS PAGE
We are delighted to announce that Atidarsagene autotemcel (Libmeldy®) has been recommended as an option by NICE (The National Institute for Health and Care Excellence) for treating metachromatic leukodystrophy (MLD) in England and Wales for eligible children. Children eligible are:
NICE committee members concluded that “MLD is a rare, serious, and life-limiting condition that significantly affects the lives of people with the condition, their families and carers.” They commended the patient organisations for their submissions providing detailed feedback from a survey on the effect of Libmeldy® on quality of life. They also acknowledged that Libmeldy®, manufactured by Orchard Therapeutics, is an innovative technology and represents a step-change in managing MLD.
Vivienne Clark, Chair of The MLD Support Association UK, said: “We are delighted with today’s announcement from NICE confirming that Libmeldy® has been recommended for use in the treatment of MLD for pre-symptomatic Late infantile or Early Juvenile and early-symptomatic Early Juvenile children. This is a major development in our fight to eradicate MLD and we would like to wholeheartedly thank all the stakeholders, clinicians and researchers for their continued hard work and dedication in making this treatment a reality. We would also like to acknowledge all the affected children and their families whose lives have been affected by this condition – many of whom selflessly supported our research despite no possibility of benefitting from this treatment – their courage, bravery and strength has played the greatest role in this achievement.”
Georgina Morton, CEO of ArchAngel MLD Trust and patient expert, said: “We would like to thank NHS England and NICE for recognising the immeasurable suffering of MLD patients and the life-changing potential of Libmeldy®. This recommendation is a salute to the tireless commitment of many clinicians, advocates, investors and affected families and heralds a pivotal move towards vanquishing this appalling disease. It also facilitates an important step closer to newborn screening for MLD and a future which allows all eligible patients to access this remarkable treatment at the earliest opportunity.”
Nicola Elson, a patient expert, said: “We are completely overjoyed with the decision from NICE to recommend Libmeldy® for use in England and Wales for eligible children. With an MLD diagnosis for two of our children, one untreated and the other seven years post-transplant, we have witnessed first-hand the pain, torture and devastation this monstrous condition unleashes on innocent children. We have also seen the results of this ground-breaking treatment and the second chance at life it brings. We are thrilled those other children will have access to this therapy.”
Orchard Therapeutics CEO, Professor Bobby Gaspar, M.D., PhD said: “Today’s landmark decision by NHS England follows a thoughtful and comprehensive value assessment by NICE and represents a major milestone for the MLD community, Orchard, and the entire field of HSC gene therapy”.
Bob Stevens, Group Chief Executive of The MPS Society, said: “The decision by NICE to recommend Libmeldy® marks a milestone in the evolution of treatments and therapies for rare metabolic conditions. It is the first time that gene therapy has been recommended in England for any of these diseases and what was once science fiction has now become science fact. Today as a result of collaboration, we have another treatment option to add to the existing innovative therapies for one of our diseases, MLD. Today, hope grew a little larger for our community.”
The final evaluation document (FED) can be found here.
When NICE recommends a treatment the NHS must make sure it is available within 3 months.
We would like to thank all the MLD community, clinicians and patient groups for all their submissions, representation at committee meetings and information shared through the surveys and personal stories.
– END –
Other information:
Orchard Therapeutic’s press release can be found here
About the Patient organisations:
MLD Support Association UK
www.mldsupport.org.uk
Contact
Vivienne Clark (Chair)
vivienne@mldsupportuk.org.uk
ArchAngel MLD Trust
www.archangel.org.uk
Contact
Georgina Morton (CEO)
contact@ArchAngel.org.uk
georginamorton@archangel.org.uk
The MPS Society
www.mpssociety.org.uk
Contact
Sophie Thomas (Senior Head of Patient Services and Clinical Liaisons)
s.thomas@mpssociety.org.uk
Thanks to National Lottery funding the MLD Support Association UK Funday will take place on Sunday 10th April at Drayton Manor (Tamworth, Staffordshire, B78 3TW).
Drayton Manor Resort consists of a theme park with over 100 rides and attractions including plenty of family fun rides, Europe’s only Thomas Land, and a 15-acre zoo. The event is open to all UK MLD families and will include tickets into the park, refreshments and a light lunch.
To register for the Funday please complete the form below by Friday 18 February. If you have any questions please do get in touch.
Drayton Manor’s objective is to ensure the site is accessible to all guests. Further information and guidance can be obtained from guest services, or from our web site, or in literature upon request. Information is also indicated on primary safety instruction signs at each ride/attraction.
Nursing Mothers and Baby Changing facilities are located opposite the Safari Pizza and Pasta. Baby changing facilities can be found in all of our toilet facilities.
Manned by qualified staff which is located in the centre of the park. Situated next to the 4D Cinema.
Drayton Manor Park have installed a brand-new Hoist Room. This brand-new room consists of a toilet, a wash hand basin, a shower, a hydraulic bed and a hoist. Most importantly the room is spacious enough to provide ample room for carers and is located behind the First Aid department. The electronic hoist is easy to use with a foot pedal to pump it up to its maximum level above waist height and the environment surrounding this area has been made easily accessible and wheelchair friendly. All the relevant support bars, as well as an emergency call rope, have been installed to ensure users can be supported at all times. Please note: Customers are asked to bring your own sling.
