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New Gene Therapy May Enable Children With Rare Genetic Conditions To Walk And Talk

  • Health
gene therapy

Clinical trials have examined a potential gene therapy that targets the brain to treat Aromatic L-amino acid decarboxylase (AADC) insufficiency, a rare hereditary condition that affects children.

In a small-scale experiment, a therapy known as Upstaza helped all participants’ symptoms while also enabling some kids to walk and speak for the first time.

There is no cure for the condition, yet

The neurological system is impacted by AADC deficiency, a hereditary disease. Only roughly 120 cases have been reported thus far, and over half of these were of Asian descent.

The DDC gene, which produces a protein required for the synthesis of serotonin, dopamine, and other critical neurotransmitters, is where the problem is caused. As a result, individuals with AADC deficiency either have insufficient amounts of this protein or a defective version, which keeps them from producing enough neurotransmitters.

This leads to complications such as difficulty coordinating movements, particularly in the face, head, & neck. Patients often have difficulty standing, walking, & speaking. They may also have oculogyric crises, such as Spasms in the eye muscles that fix a person’s gaze upward.

Although there is currently no treatment for the illness, the novel gene therapy is a positive step toward easing symptom.

Delivering healthy copies of the DDC gene

Directly delivering healthy copies of the DDC gene to the brain’s nerve cells is how Upstaza works. A small hole is made into the skull in this direction, and a modified, harmless virus is then injected into the putamen, a portion of the brain involved in learning & motor control that is especially important for speech & movement.

The outcomes, which were revealed at the Society for the Study of Inborn Errors of Metabolism’s in Freiburg, Germany, have demonstrated that all 30 of the youngsters who received the treatment experienced less difficulty moving, thinking coherently, and experiencing ocular crises.

Trial coordinator Wuh-Liang Hwu at the National Taiwan University Hospital told New Scientist, “The ones that got it before four years of age, there’s quite a striking difference.” We claim that they have been re-born.

7 children reportedly learnt to walk and 3 children reportedly learned to talk after after receiving Upstaza, according to New Scientist.

Upstaza was approved by the European Medicines Agency in July 2022, making it the first disease-modifying treatment for AADC deficiency and the first marketed gene therapy directly administered into the brain. The researchers are now awaiting for approval from the US Food and Drug Administration.