Gene-editing trial reveals molecular effects and serious safety problem
Molecular effects were seen in four Chinese children with Duchenne, but one participant died after the experimental treatment.
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A first clinical study of an experimental gene-editing treatment for Duchenne muscular dystrophy shows that the treatment can reach and edit human muscle cells. At the same time, one of the four participants died after a severe reaction, while the functional gains among the remaining participants were limited and preliminary.
The study results have been published in Cell and discussed by Nature. The research tested HG302, an experimental treatment from the Chinese company HuidaGene Therapeutics. According to HuidaGene, the therapy uses a CRISPR-based technique to correct a genetic error in muscle cells associated with Duchenne muscular dystrophy.
The study involved four boys with Duchenne who were able to walk independently. According to the company statement and the description in Nature, they received a single infusion with either a low or high dose. Muscle biopsies showed that the target gene had been edited at the intended site and that dystrophin could be detected, the protein that is absent or produced insufficiently in Duchenne.
According to the researchers, two participants who had been followed for twelve months improved on two functional measures. Their scores on a walking assessment rose by eight and ten points; on a six-minute walking test, they covered 106 and 162 metres more, respectively, than measured previously. These results concern two children, without a control group and with a short follow-up.
A fourth participant died after a severe reaction that the researchers link to the treatment. Nature describes how the boy received a high dose and developed an acute respiratory disorder against a background of strong activation of the complement system and a general inflammatory response. The company information calls the death treatment-related.
The study therefore does not prove that gene editing can already treat Duchenne. The molecular measurements show that the technique can be active in muscle tissue, but in themselves say nothing about how much lasting health benefit patients receive. The functional outcomes come from a very small group and must be tested in larger, controlled studies.
The safety issue is partly related to how the genetic material is delivered. HG302 uses an adeno-associated virus as a carrier, because this can reach many muscle cells throughout the body. According to researchers, a high dose can also increase the likelihood of a severe immune reaction.
The publication makes the results more verifiable, but leaves important questions open about dosage, patient selection, long-term effects and oversight of early clinical trials. According to HuidaGene, the other participants will be followed for a long time. Independent researchers will have to determine whether the molecular effects translate into lasting functional improvement and whether the risks are acceptable.
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The article follows the recent Cell publication as described by Nature and the company statement. Results and limitations are specifically attributed and are not presented as a proven treatment.
- confirmed The results of HG302-01 have been published in Cell. — Nature and HuidaGene refer to the publication in Cell. source
- confirmed The study involved four boys with Duchenne. — This is stated in the Nature description and the company information. source
- confirmed Among two participants who had been followed for twelve months, walking measurements rose by eight and ten points and distances in the six-minute test increased by 106 and 162 metres. — The figures appear in the company statement about the Cell publication. source
- confirmed A participant died after a severe treatment-related reaction. — Nature and HuidaGene describe the death and link it to the treatment. source
- confirmed The study does not prove that gene editing can already treat Duchenne. — This is a methodological conclusion based on the very small study, the absence of a control group and the limited follow-up. source
Editor's note
The publication in Cell and the molecular effects have been confirmed by Nature and the company statement. The functional improvements come from two participants and are exploratory; the size of the study and the absence of a control group limit the conclusions.Sources
More on this in Dutch media
- RTL Nieuws — „gene-editing crispr”
- NOS — „gene-editing crispr”
- Het Parool — „gene-editing crispr”