A girl suffers from a rare disease and has no way to seek treatment.
Alma is a 2-year-old girl from Sweden. In May of this year, she was diagnosed with a deadly rare disease called MLD, which stands for Metachromatic Leukodystrophy. This rare condition is caused by genetic mutations and leads to irreversible damage to the nervous system. MLD can result in difficulties walking, abnormal muscle tone, seizures, and a decline in cognitive and motor functions, ultimately leading to death, and the progression of the disease is very rapid.
The girl’s parents contacted many doctors and experts related to MLD and sent her medical information, but they all received rejection letters, believing that the disease had progressed too far to be treatable. Initially, they hoped that a Swedish hospital would use a gene therapy drug called Libmeldy to treat Alma.
Libmeldy was approved by the European Medicines Agency (EMA) in 2020 for specific types of MLD patients, making it the first gene therapy approved for treating MLD worldwide. However, Libmeldy is an extremely expensive drug, with a single treatment costing up to 30 million kronor (approximately 21 million RMB). Ultimately, the Swedish hospital also refused to administer this medication to them.
The only chance was in China.
In early June, a breakthrough occurred when Alma’s father learned that China had successful experience in researching and treating this disease. They contacted a hospital in Guangzhou, China, and through an online video consultation, the Chinese doctors believed that the little girl still had a chance for treatment.
On July 11, their family set off for China. “Everything happened so quickly; it only took three weeks from our first video conference to our arrival in Guangzhou. This was the only opportunity in the world,” Alma’s father expressed his amazement.
The treatment was successfully completed.
On August 30, Alma was hospitalized for the first time to collect autologous peripheral stem cells. From September 3 to 4, hematopoietic stem cells were harvested. After the gene editing of the peripheral blood stem cells was completed, Alma underwent a conditioning regimen.
On October 9, Alma received a reinfusion of her hematopoietic stem cells. Following the transplantation, Alma’s hematopoietic function gradually recovered, and the muscle tension caused by nerve damage showed improvement. Her physical activity increased, and her previously immobile right foot was able to move independently.
Doctors indicated that Alma’s series of improvements meant that the nerve damage had been stabilized, and the subhealthy cells had not worsened but had even regained function. In the future, Alma will be able to develop like other children and return to a normal life.
China’s Innovative Treatment: Gene-Edited Stem Cells
MLD is an extremely rare disease, and traditional treatment methods involve allogeneic hematopoietic stem cell transplantation, which is only suitable for patients diagnosed at a very early stage. Additionally, finding a suitable donor is often difficult. Chemotherapy doses are typically higher than those used in autologous transplants, leading to potential immune storms and damage due to graft-versus-host reactions. Long-term use of immunosuppressants can harm the nervous system and lead to infection complications.
To address the shortcomings of traditional treatments, a hospital in Guangzhou, China, has pioneered “hematopoietic stem cell transplantation based on genetically modified autologous hematopoietic stem cells.” This innovative approach has successfully treated six cases, with the oldest patient being 9 years old and the youngest just over 1 year old; some patients have already started elementary school.
Gene-edited autologous transplantation involves collecting the patient’s own cells, repairing the damaged genes, and then reinfusing the cells. Compared to traditional allogeneic transplants, the medications used for conditioning are much lighter, and there is no need for long-term use of strong immunosuppressants. This technique can also be used to treat conditions such as thalassemia.