Drugs with craftsman led the man’s slowdown. Is it the future of treatment?
Dr. Rakish Barrick was in his mid -forties when he first noticed that there was something wrong: during the training, his left arm was weaker and struggled to keep up with it. Initially, Parekh, emergency medicine and father of three children assumed that he was exaggerating the gym.
“There was no part of me who wanted to believe that he was in danger,” said Barrick, 52, from Orlando, Florida.
Barrick had seen his father died from the atrophic lateral sclerosis, and a gradual nervous disease known as the ALS or Lou Gehrig disease. In 2021, a neurologist confirmed what Barrick feared: He had the same healing diagnosis.
“I didn’t really think that something could lengthen my life or improve my life,” said Barrick.
This was not the case. He told Parekh’s genetic test that his illness was caused by a boom on a gene called Chchd10, the information that his father had not been a decade ago. Although exceptionally rare, Chcd10 is one of about 40 genes determined by scientists as a cause of about 20 % of ALS cases.
In April 2024, Parekh obtained a dedicated drug called anti -womenalokinotide, or ASO. It was a treatment before N-Lorem FoundationIt is a non -profit organization that makes individual treatments for patients with very rare diseases resulting from one genetic mutation. It is called “Nano Rary”, and it affects less than 30 people at the same time, according to the founder of the group, chairman and CEO of Dr. Stanley Crook.
Crook said that he started non -profit organizations because patients with Narou’s diseases “have no hope, no place to go, no help.” He said that diseases are very rare, so there is no commercial value in developing medicines for them.
“That’s why we are present, to fill this void,” Crook said. The Foundation pays the full cost of drug development, which may take several years.
Parekh treatment from N-Lorem was the first to target Chchd10’s mutations in someone with ALS.
Als occurs due to wrong proteins that attack nerve cells in the brain stem and spinal cord, which ultimately leads to a person’s loss of muscle control, including those necessary for breathing. ASOS targets the genes that make these proteins and stop their production. The gene has not been changed, but through silence, the disease should be prevented from rapid progress.
“The key is to hunt early, before the death of a large number of neurons. “When we see some patients, these cells are sick but did not die. So by stopping these genes, they can restore some of this force.”
In the case of Parekh, the target treatment appears to be slower in more than half.
“His illness may have improved slightly, he does not lose strength as he used to,” said Dr. Piurn Oscarson, a neuron at Barrick and the director of the Mayo Clinic Fordham Company in Florida.
This is not a four -year -old model news in ALS diagnosis.
“By the time when people suffer from the symptoms of what worries them enough to see a neurologist and they are diagnosed with Als, they usually have only about three years,” said Brian Pershala, ALS research professor at Indiana University.
Targeting genes
Als was historically a very difficult disease to treat it. There is no treatment and the disease is always fatal.
Als does not have one reason, which makes targeting the origin of the disease represents a particularly challenge. Genetic mutations are the smoking rifle – as long as scientists know which of them is looking for it.
“When you turn off the gene, you put the match that starts the fire,” Rothstein said.
About 10 % of people have family Als, which is hereditary and transmitted. The remaining 90 % has separate als, which is not inherited. Among people with family Als, 70 % have a well -known genetic mutation, According to Als. Among people with separate Als, this number decreases to about 10 %.
Not everything is caused by genetic mutations, but every year, genetic scientists determine more mutations associated with the disease. With the growth growth, Oskarsson expects genes – which can open the door to more targeted treatments – to explain more than half of Als’s diagnoses.
“Our success rates are much higher if we try to allocate treatments for individuals who carry [a] “For a long time, we had only one drug that only extended three to 12 months,” said Dr. Soma Babo, co -director of the Neurological Clinical Research Institute at Massachusetts General Hospital.
Babu said that the field is developing quickly.
The Food and Drug Administration has approved four ALS drugs since 1995, the last of them, He called QALSODY From the Ionis Pharmaceuticals-its Crooke company before leaving it and the N-Lorm Foundation began. It was the first ALS drug from the Food and Drug Administration (FDA), which targeted a genetic mutation, called SOD1. This type of als account About 2 % Cases in the United States, or nearly 500 people.
“It is a small number of people, but it is a very strong drug for a disease that does not suffer from treatment,” said Rothstein.
studies It has shown that the drug can slow the development of the disease and even improve symptoms – and the same response appears to be in its personal treatment.
“This path has paved the most accurate way to some genes specified in Als,” Babo said.
ALS experts and specialized centers are now cooperating with non-profit organizations such as N-Lorem and Silence Als to expand ASOS to more people with more mutations. This is a big step forward in the treatment of Als, but genes targeting treatments are limited to those who can help.
“We know that genetic mutations are now for 15-20 % of patients, leaving about 80 % of people without known genetic mutations,” said Bershala. He added that ASOS was also not developed for all the known genetic causes of Als, because the different genes act in different ways, which makes targeting more difficult.
Open future treatments
Parik’s personal treatment took three years and $ 1.2 million to create it, but now that it has been made, creating a drug for other people with a boom on the same gene will be much faster.
Crook, of N-Lorem, said that there are now about 10 people treated by non-profit organizations using Parekh as a starting point. The institution covers all the costs of medicines.
Barric was getting the medicine for more than a year, and longer than his father lived after his diagnosis. Every three months, he gets a click in the spine, where the treatment is injected directly into the rays.
He is still able to play with his children and recently returned from a trip to Greece, where he managed to climb a very slope from the stairs to the Acropolis. Since the treatment is very new, it is unclear how permanently.
“We do not have contracts for experience with them. We hope it will be held throughout their lives, but we do not know that,” said Oscarson.
And with more people, and as genetic scientists reveal more genes associated with the disease, ASOS “will be transforming to some sub -species of Als”, even if the gains made with each gene cannot help everyone.
She said: “If we can make this a suitable disease to live for 300 people who are likely to be in the main ages of their lives, I think this is success.” “If we can get rid of the gene from a gene, the sub -type, according to the sub -type, I think we will see successes in Als.”