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.

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.

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

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