Boy Receives 'historic' Gene Therapy Treatment At Virginia Hospital That 'opens A Lot Of Doors'
NORFOLK, Va. — A gene therapy treatment that doctors said is life-altering for patients with Duchenne Muscular Dystrophy was approved by the FDA in June.
Now, the parents of one 5-year-old in Norfolk said they have hope again as their child is treated in what doctors at Children's Hospital of The King's Daughters (CHKD) claimed is a "historic" event.
"Hi my name's Karson," 5-year-old Karson Blanchard introduced himself.
WTKR staff
Gene therapy at CHKDHe is going into first grade, and he likes many things other kids his age like.
One of those things?
"Mac and Cheese," said Karson. "And chocolate."
He and his family have been in and out of hospital rooms for most of his life.
"In infancy, Karson didn't really hit his gross motor milestones," explained Karson's mother, Katy Blanchard.
She said doctors found out Karson had Duchenne Muscular Dystrophy, a genetic condition that results in progressive wasting of the muscles. It is considered rare. It is usually recognized in kids between ages three and six and often reduces their lifespans. Many patients suffer from heart and/or respiratory failure in their 20s and 30s because of the condition.
Karson has been getting some treatment for the condition, but Wednesday he was at CHKD in Norfolk to try a new gene therapy: Elevidys.
"It really opens a lot of doors for what-ifs that weren't possible before," said Katy. "Of course, we don't know what exactly it will look like, but now we can wonder whether he will have to get therapy every week forever, or maybe he'll be able to walk through high school or into adulthood, where that really wasn't a possibility before."
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Doctors said the treatment works by making a protein similar to the one missing in Karson's muscles.
Clinicians said it is given in a single does and while it cannot reverse muscle damage, they believe it could prevent future impairment. They said CHKD's the first hospital in Virginia to administer the therapy and plan to use the treatment for other patients in the future.
But the best part for Karson?
"Not having to get poked," Karson said with a smile.
The treatment's only given to patients between 4 and 5-years-old.
Karson turns six in a couple of days.
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Gene Therapy White Paper
Published on: 4 September 2023
As gene therapy to treat Duchenne muscular dystrophy is approved in America, a report highlights how NHS referral for gene therapy trials, and approved treatment, need to be agreed.
The report, published today, is the result of a collaborative effort of the DMD Hub, including Newcastle University's John Walton Muscular Dystrophy Research Centre, Cell and Gene Therapy Catapult, and the Northern Alliance Advanced Therapy Treatment Centre.
The charity Duchenne UK says that the report is particularly important for patients and families living with Duchenne muscular dystrophy as it sets key recommendations that, if implemented, will transform access to these potentially life-changing treatments.
Gene therapy treatmentDuchenne muscular dystrophy is a genetic disease that causes muscle weakness and wasting. It eventually affects all the muscles in the body, including the heart and lungs.
There is currently no cure for Duchenne muscular dystrophy, but there are treatments and therapies that can slow down the progression and improve quality of life.
Gene therapy is one of the most promising new treatments for it. It involves delivering new genetic material to cells to overcome errors (or mutations) on the dystrophin gene.
A gene therapy was approved as a Duchenne muscular dystrophy treatment in the US in June. This was the first Duchenne muscular dystrophy gene therapy to be approved anywhere in the world.
While not yet available as an approved treatment in the UK, there are Duchenne muscular dystrophy gene therapy clinical trials taking place and giving eligible Duchenne muscular dystrophy patient the opportunity to access these, potentially transformative, treatments.
Michela Guglieri, Professor of Neuormuscular Disorders and Senior Clinical Lecturer at Newcastle University, said: "As gene therapy is on the horizon for Duchenne muscular dystrophy as a licenced product, we considered how we can prepare for gene therapy licenced products in Duchenne muscular dystrophy as standards of care, using learnings and shared experiences from approved gene therapies in other neuromuscular disorders.
"A set of recommendations for improved, standardised future practice is proposed, as well as referral pathways for gene therapy clinical trials and licenced products for Duchenne muscular dystrophy."
Experts hope that gene therapy for Duchenne muscular dystrophy will be approved as a treatment in the UK in the next couple of years.
Patient referral pathwaysThe report highlights how important it is to understand the current gene therapy patient referral pathways in the UK and sets out how they could be improved.
The white paper outlines the following recommendations in the context of NHS England, but potentially applicable nationally.
• Ensuring that adequate and sustainable infrastructures are in place for effective patient referrals to gene therapy clinical trials.
• Reviewing how to attract doctors and other healthcare professionals to specialise in neuromuscular disorders, and plan the provision of training and education targeted at gene therapy.
• Evaluating where additional clinical trial and commissioning sites for Duchenne muscular dystrophy gene therapy should be located geographically to improve access and invest in developing infrastructures to deliver these trials.
• Implementation of national referral pathways for clinical trials and access to gene therapy treatment.
Alessandra Gaeta, Director of Research at Duchenne UK, said: "Now that these recommendations have been developed, we can use them to drive best practice in Duchenne muscular dystrophy through their adoption in the NHS."
Emma Heslop, DMD Hub Manager, added: "By highlighting best practice from across the UK, we propose a referral pathway for gene therapy clinical trials in the UK, to allow effective and equitable access to research for Duchenne muscular dystrophy patients."
The full findings and recommendations in the report Evaluation of the Gene Therapy Patient Referral Pathways in the UK, can be found here.
White paper on referral pathways for gene therapyAs gene therapy to treat Duchenne muscular dystrophy is approved in America, a report highlights how NHS referral for gene therapy trials, and approved treatment, need to be agreed.
published on: 4 September 2023
AstraZeneca Bets That Gene Therapy's Workhorse Will Still Deliver The Goods
Seng Cheng has been working in gene therapy for nearly as long as gene therapy has been a field. As a young scientist in the early 1990s, he was part of one of three teams racing to develop a gene therapy for cystic fibrosis, a high-profile effort that resulted in national headlines, prestigious publications, and zero patients cured.
So he's seen the field's highs and lows. Lately, there have been a lot of both, including at Pfizer, the company Cheng called home until this summer. The pharma brought three potentially powerful gene therapies for muscular dystrophy and hemophilia into late-stage trials but, in January, chose to abandon a large portfolio of early stage candidates that relied on the same technology: adeno-associated viruses, or AAVs, a group of small bugs that scientists spent two decades taming into a gene shipping system.
The move seemed emblematic. Across the industry, AAV companies have been struggling, either shelving programs or stopping work altogether, while investors shuttled money toward new technologies such as CRISPR and its various permutations. Longtime researchers feared promising drugs, particularly for ultra-rare diseases, might get lost in the shuffle.
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