Doctors at Minneapolis-based M Health Fairview Masonic Children’s Hospital performed the first gene therapy procedure for metachromatic leukodystrophy in the United States for a four-year-old girl living with the disease.
The 4-year-old patient is Celia Grace Hamlett.
"In February of last year, she woke up in severe pain and was folded over on her stomach," said her mother, Kassie Hamlett.
They live in Alabama and immediately took her into the hospital, where it was determined that Celia Grace's gallbladder was bad, so doctors removed it and found a mass.
"The pathologist found a neoplasm inside the mass, and said that a lot of times that signified the presence of MLD, or metachromatic leukodystrophy."
It is a rare, inherited disorder affecting approximately 1 in 40,000 children.
Patients suffering from MLD, primarily young children, experience loss of their motor and cognitive functions. In these cases, MLD causes children to lose the ability to walk, talk, and even interact with the world around them.
For these children, the disease is progressive and fatal if untreated.
Some patients have received gene therapy for MLD in Europe, but Celia Grace is the first person with MLD to receive gene therapy in the United States. M Health Fairview Masonic Children’s Hospital received FDA approval for gene therapy through compassionate care.
In July 2021, the Hamlett family traveled from their home state of Alabama to Minnesota, where blood stem cells from Celia Grace were obtained. The cells were shipped to Milan, Italy, and engineered to produce arylsulfatase A, the missing enzyme responsible for MLD, then sent back to the Molecular and Cellular Therapeutics Facility at the University of Minnesota. Celia Grace underwent chemotherapy to eliminate the blood-producing cells unable to make the ARSA enzyme, and on Sept. 27, more than 500 million corrected cells were infused back into her body.
It's been a long year for Celia Grace, "At first she would argue with you and say I'm not sick, because she's asymptotic, so now she says the doctors are helping me feel better, and that's what I told her, we are just trying to keep you well baby."
Celia Grace is still recovering at M Health Fairview Masonic Children’s Hospital, and from there will be moved to the Ronald McDonald House, where she will be monitored for several months.
"We anticipate that this will give us an opportunity to stop the progression of the disease," said Dr. Paul Orchard, who performed the gene therapy on Celia Grace. "Because the disease otherwise is progressive, debilitating, and ultimately fatal.
"The goal is to give her a shot at living a long healthy life.