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Bringing hope to families
in the fight to eradicate MLD

 
 
 
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Family activity weekend in the Lake District

By Families, Support

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.

Registration form

Clinical trial update from Takeda

By Families, Research

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.

Evaluating its options

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.

Newborn Screening Collaborative Mum and Dad

A Rare Find: The Newborn Screening Collaborative comedy short

By Families, Research

The UK currently screens newborns for just nine rare but serious conditions whereas the USA tests for up to 59. Filmmaker John Lee Taggart aims to create conversation and progress surrounding this issue with his upcoming comedy short, “A Rare Find”, which features narration from Peep Show’s Robert Webb. The film is divided into five parts which you can watch below.

1. Opening scenes

2. Doctor visit

3. Nine conditions

4. NBS advocacy

5. End credits

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.”

The Newborn Screening Collaborative

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

Hopes for the film and the broader campaign

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

Newborn Screening Collaborative

A Rare Find: Comedy short wants to create conversation around newborn screening

By Families, Research

The UK currently screens newborns for just 9 rare but serious conditions whereas the USA tests for up to 59. Local filmmaker John Lee Taggart hopes to create conversation and progress surrounding this issue with his upcoming comedy short, “A Rare Find”, which features narration from Peep Show’s Robert Webb. 

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.”

The Newborn Screening Collaborative

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

Hopes for the film and the broader campaign

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

Newborn Baby Genomics England

Genomics England includes MLD on its provisional list

By Research
MLD Newborn Baby

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 MLD Support Association UK

Sally on the tele running the London Marathon

By Fundraising
Sally Tooms is running the London Marathon for MLD Support Association UK

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
Niamah Hitchman MLD Support Association UK

Niamh’s Skydive for MLD

By Fundraising
Niamh Hitchman Skydive for MLD Support Association UK

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
Newborn Screening

Archangel launches collaborative newborn screening campaign

By Uncategorized
Newborn Screening Campaign

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…

Toni Mathieson, Chief Executive Officer of Niemann-Pick UK (NPUK) writes:

“…as part of the Newborn Screening Collaborative we must first and foremost review the UK NBS policy and processes, including those being developed in response to the existing rare disease framework and genomics plan. This is essential as to properly grow and develop we must first identify areas that are not working, highlight where the gaps are, and then use our shared strength and expertise to make recommendations for improving in a realistic and feasible way…”

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.

Find out more

Family Fun Day MLD Support Association UK

Autumn Family Fun Day

By Families, Support
 
 
 
 
 

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

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.

Facilities

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:

Registration form

MLD Support Association UK Volunteers

Can you spare your time and talent?

By Fundraising, Support
MLD Support Association UK Charity Volunteers

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

The MPS Society Logo

Working with The MPS Society

By Families, Support
Donna MPS Society

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.

Gene Therapy Study for Late Juvenile Metachromatic Leukodystrophy (LJ MLD)

By Research
Gene Therapy Study for Late Juvenile MLD

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

NICE final guidance approves life-changing gene therapy for treating Metachromatic Leukodystrophy (MLD)

By Research

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:

  • children who have late infantile or early juvenile types, with no clinical signs or symptoms
  • children who have the early juvenile type, with early clinical signs or symptoms, and who can still walk independently and have no cognitive decline.

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

Announcing Family Fun Day at Drayton Manor Resort

By Families, Support
 
 
 
 
 
 
 
 
 

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.

Disabled access

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 mums and baby changing

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.

Medical

Manned by qualified staff which is located in the centre of the park. Situated next to the 4D Cinema.

Accessible toilets and changing rooms

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.

Registration form

Newborn Screening for MLD Update

By Research

A formal application to add Metachromatic Leukodystrophy to the UK Newborn Bloodspot (NBS) programme has now been made to the National Screening Committee (NSC). This is an important milestone for the MLD community and one which could not have been possible without the important support and ongoing collaboration of many brilliant scientists and heroic clinicians.

Unfortunately this will be a lengthy and challenging process, as the UK NSC is in urgent need of reform. We will continue to work hard for future MLD affected families and to campaign for changes to the system which will bring hope to many other rare diseases where treatments and tests are available. 

Please visit ArchAngel.org.uk/NBS or email contact@archangel.org.uk for further details.

NEWS PAGE
MLD Support Association UK Christmas Party

Christmas party announcement

By Families, Support
MLD Support Association UK Captain Fantastic Christmas Party

Great News! We will be holding a virtual Christmas Party on Saturday 11th December 1pm-2pm for our MLD children and their siblings. We will also be distributing Festive Family packages in the lead up to Christmas to UK MLD families. If you would like to register your family, please follow the link to complete the required contact information before 7th November.

NEWS PAGE

Support us with Amazon Smile

By Fundraising
Amazon Smile MLD Support Association UK

AmazonSmile is a really simple way for you to support MLD Support Association UK every time you shop, at no cost to you.

The way it works is that Amazon donates 0.5% of the price of eligible AmazonSmile purchases to charities, and MLD Support Association UK is now registered with AmazonSmile. There is no catch – it is the same Amazon you know – same products, same price and same service.

So please register with AmazonSmile and help MLD Support Association to continue providing support to families affected by MLD. There are millions of eligible products available – look out for ‘Eligible for smile.amazon.co.uk’ on the product’s details page.

GET STARTED
mld-support-association-uk-christmas-party

Christmas party 2021

By Families, Fundraising, Support

Great News!  We have secured funding from the National Lottery Community Fund to hold a 2021 Christmas Party – Date and time to be confirmed in the near future. The last eighteen months have been tough on everybody, but especially our little ones, siblings, parents and carers and it will be wonderful to get together at this special time of year.

As an organisation we will be monitoring the Covid-19 situation closely, working within the government guidelines and potentially adding a few of our own in order to keep all our VIPs as safe as possible. #NationalLottery,

NEWS PAGE
MLD Gene Therapy update NICE

Update on approval of gene therapy for MLD

By Research

NICE (National Institute of Clinical Excellence) the drug decision making body have publicly released their interim decision today (9 July 2021) not to recommend OTL-200 (Libmeldy), the treatment for individuals suffering from both, late infantile and early juvenile Metachromatic Leukodystrophy (MLD).

Although NICE have acknowledged the clinical benefit to patients they have given a “NO” decision due to long term uncertainty. This is not NICE’s final decision and the committee is proposing to meet again on the 6 October 2021 following review of the feedback from consultees and members of the public.

Members of the public have until the 30th July 2021 to submit views and feedback to NICE. The evaluation committee will then reconsider the evidence and their decision at the proposed meeting in October.

Download Press Release

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