Celebrating Celia Grace: Child with rare disease makes history with groundbreaking gene therapy
After making medical history earlier this year, 4-year-old Celia Grace Hamlett and her family are ready to celebrate the holidays together back at home – and this year they have a few extra reasons to be thankful.
In September, she became the first person in the United States to receive gene therapy for metachromatic leukodystrophy (MLD) – a rare and often fatal genetic disease. A team at M Health Fairview Masonic Children’s Hospital performed the groundbreaking procedure after working with the U.S. Food and Drug Administration (FDA) to get it approved.
“It’s exciting to be able to offer this opportunity for Celia Grace, and hopefully for many more patients like her in the future,” said M Health Fairview Blood and Marrow Transplant Physician Paul Orchard, MD. “It’s a pioneering step forward for us, and hopefully for the fields of gene therapy and rare disease research.”
Search for treatment leads to Minneapolis
Celia Grace was diagnosed with MLD in 2020, and the Hamletts immediately began their search for treatment. Because MLD is a rare disease – affecting 1 in 40,000 children in the U.S. each year – they had to travel from their home in Alabama to Atlanta, Georgia, just to find a specialist familiar with the condition.
Their doctor immediately recommended a new gene therapy, in large part because Celia Grace still hadn’t shown symptoms of MLD, which is a progressive disease. Because Celia’s disease was still in the early stages, gene therapy treatment was more likely to be successful.
People suffering from MLD, primarily young children, eventually lose the ability to walk, talk, and even interact with the world around them. For these children, the disease is fatal if untreated. MLD is caused by a missing enzyme in the blood and is traditionally treated through a bone marrow transplant. This process uses cells from a healthy donor as the source of the missing enzyme. However, transplantation is a risky procedure associated with a long hospital stay and many possible complications. In addition, a bone marrow transplant doesn’t cure the disease – it only slows or halts the disease progression.
Gene therapy is a promising new area of treatment for genetic conditions like MLD. Not only does it help prevent symptoms of the disease, but it has the power to cure the condition for good.
The Hamletts were thrilled to pursue gene therapy as an option. But Celia Grace and her family faced an immediate – and significant – hurdle. The gene therapy she needed wasn’t yet available in the United States, although it’s been available in Europe for several years. To save their little girl, the Hamletts thought they may have to raise money and travel to a specialized laboratory in Italy.
Then they got some good news.
“Our doctor called us. They said, ‘What would you think if I said your daughter was about to make history?’” said Gary Hamlett, Celia Grace’s father. “They told us our daughter would be the first one to be treated in the United States, and that she could have the procedure done in Minneapolis.”
Making history at M Health Fairview
Blood and Marrow Transplant Physician Paul Orchard, MD, first met Celia Grace and her family in December 2020, the depths of winter in Minnesota. In the months that followed, Orchard and his team applied for FDA approval to use gene therapy for Celia Grace.
Meanwhile, the Hamlett family worked tirelessly to get the procedure covered by insurance. All the pieces fell into place last summer, after the FDA approved use of the new gene therapy for Celia’s case.
In July, Celia Grace and her family returned to Minnesota for treatment.
Orchard and his team collected blood cells from her body, and sent them to a laboratory in Milan, Italy where they were re-engineered to produce the missing enzyme. The updated cells were then sent back to Minnesota.
On Sept. 27, Celia finally received gene therapy: more than 500 million re-engineered cells in 4 bags were put back into her blood during a process called infusion. Following the infusion, the cells went to work producing the missing enzyme.
“It took a village to get this off the ground – not only medical providers, but our support team and the infrastructure at M Health Fairview that helped us secure this approval,” said Orchard.
Together, the Hamlett family and their M Health Fairview care team have helped pave the way for this life-saving treatment in the United States. There are now two other patients who have been approved by the FDA to receive this therapy at M Health Fairview Masonic Children’s Hospital.
