20 ms·

> Teddi and her sister Nala, age 3, were both diagnosed with MLD in April 2022, according to the NHS. Unfortunately, Nala was not eligible for Libmeldy because

> Teddi and her sister Nala, age 3, were both diagnosed with MLD in April 2022, according to the NHS. Unfortunately, Nala was not eligible for Libmeldy because she'd already developed symptoms of the disorder. Holy shit. My god, I'm just thinking of the parents. "Sorry, we can only save one of your kids." "You can't give Nala the treatment?" "Well, we could. We won't, though." I'm sure there are good reasons, but Jesus, that's harsh.

deleted 4y ago
[deleted]
smt88 4y ago
Apparently MLD is not in the standard genetic screening panel that these parents would (probably) have been offered. I guess that's one reason for every couple to do genetic counseling if they can.
ec109685 4y ago
It sounds like it’s not effective if it’s given too late.
toast0 4y ago
> In clinical trials, Libmeldy offered clear benefits to infantile and juvenile patients who hadn't yet developed MLD symptoms Does that mean clincal trials didn't show a benefit for patients who had already developed symptoms? Does it mean it wasn't studied in patients who had already developed symptoms? I don't think it's unreasonable that the NHS won't spend large amounts of other people's money on a treatment that hasn't been studied or wasn't found to be effective.
- perlgeek 4y ago
  > Does that mean clincal trials didn't show a benefit for patients who had already developed symptoms? Does it mean it wasn't studied in patients who had already developed symptoms? It likely wasn't studied. It's a pretty new treatment, so the vendors start with clinical trials for use cases where the clearest/greatest impact is expected, and maybe later on move to related use cases.
oliverx0 4y ago
The treatment works on the child without symptoms because in most cases neurological affections are irreversible. Since the child had not developed them, the therapy would essentially fix the body before it caused them. In the case of the child who already shows neurological symptoms, the treatment can help stop the progression of the disease, but most likely not reverse the already existing damage. However, there are already treatments approved to help stop the progression of the disease, including enzyme replacement therapy (provide the enzyme in charge of degrading the sustrate through the bloodstream every so often). Some would argue that if treatments with similar outcomes already exist and are approved, it could be unethical to test this experimental treatment on a patient (I disagree).

deleted 4y ago

[deleted]

smt88 4y ago

Apparently MLD is not in the standard genetic screening panel that these parents would (probably) have been offered. I guess that's one reason for every couple to do genetic counseling if they can.

ec109685 4y ago

It sounds like it’s not effective if it’s given too late.

toast0 4y ago

> In clinical trials, Libmeldy offered clear benefits to infantile and juvenile patients who hadn't yet developed MLD symptoms Does that mean clincal trials didn't show a benefit for patients who had already developed symptoms? Does it mean it wasn't studied in patients who had already developed symptoms? I don't think it's unreasonable that the NHS won't spend large amounts of other people's money on a treatment that hasn't been studied or wasn't found to be effective.

perlgeek 4y ago
> Does that mean clincal trials didn't show a benefit for patients who had already developed symptoms? Does it mean it wasn't studied in patients who had already developed symptoms? It likely wasn't studied. It's a pretty new treatment, so the vendors start with clinical trials for use cases where the clearest/greatest impact is expected, and maybe later on move to related use cases.

oliverx0 4y ago

The treatment works on the child without symptoms because in most cases neurological affections are irreversible. Since the child had not developed them, the therapy would essentially fix the body before it caused them. In the case of the child who already shows neurological symptoms, the treatment can help stop the progression of the disease, but most likely not reverse the already existing damage. However, there are already treatments approved to help stop the progression of the disease, including enzyme replacement therapy (provide the enzyme in charge of degrading the sustrate through the bloodstream every so often). Some would argue that if treatments with similar outcomes already exist and are approved, it could be unethical to test this experimental treatment on a patient (I disagree).