Best Gene Therapy for AADC Deficiency
Health, Medicine

The Best Gene Therapy for AADC Deficiency

What is the best gene therapy available for AADC deficiency? As parents of a daughter with aromatic L-amino acid decarboxylase deficiency, we asked this question as we soon as we learned about gene therapy. The quick answer is, the gene therapy that you can get quickest. Currently, Upstaza is the only approved gene therapy to treat aromatic l-amino decarboxylase deficiency.

UPSTAZA™ (eladocagene exuparvovec) has been approved in the European Union and Great Britain for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency for patients 18 months and older.

Age Eligibility of Gene Therapy

In 2018, there were two experimental gene therapies. One was in the final phase after years of research; another was a relatively new method available for compassionate use only.

While we tried to disseminate the information available, one apparent fact was the eligibility. Originally we applied for the compassionate use of gene therapy because we assumed newer meant better. However, doctors told us to apply again when our daughter was 7 years old. She was already in and out of the ER, and we were fighting to keep her alive when she was 3 months old. 7 years was an eternity away.

However, our daughter was eligible for the clinical trial for eladocagene exuparvovec when she was 18 months. Having this gene therapy early in life is what my wife and I attribute to a significant portion of our daughter’s success. Having access to gene therapy at 18 months old still remains the top reason why her success has been so significant.

Other Methods of Gene Therapy

Hopefully, in the near future, more options and further innovation will happen in the area of medical science, exploring gene therapy and the like. There are currently other methods of gene therapy being tested in the USA, Poland, and China. Also, other diseases have their own form of gene therapy. The question of which is the best gene therapy has been cropping up more and more.

Upstaza is the only gene therapy approved, but is it the best method? Well, it is in the company’s interest to answer this question, and that’s just what they did. They helped to fund research that explored this very question and here is what the Best form of gene therapy for AADC deficiency.

The direct route into the putamen is better than other forms of gene therapy delivery for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. Upstaza (eladocagene exuparvovec) has a decades worth of data that continues to show children making progress after a one-time treatment. However this study compared different deilvery types and “the intraputaminal route yielded the highest levels of transgene-derived mRNA expression in the putamen, caudate, and globus pallidus, while expression levels in the spinal cord and dorsal root ganglia (DRG, a target of special toxicological concern) were undetectable” (Compton et al., 2022).

Future Gene Therapy

As the list of approved gene therapy grows, more data will become available making the results even better. Gene therapy gives a lot of hope to people in the rare disease and single-gene disorder communities.

References

1.) Compton, D. R., DeMarco, S. J., & Yalamanchili, P. (2022). AAV2-haadc (Eladocagene Exuparvovec) biodistribution and expression: Superiority of intraputaminal versus intracerebroventricular and intrathecal (Lumbar) routes of administration. International Journal of Toxicology, 42(2), 135–145. https://doi.org/10.1177/10915818221144424

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