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First Gene Therapy for GSD Type 1a

Dr. David Weinstein from UConn School of Medicine and Connecticut Children’s has carried out clinical trials on new gene therapy for GSD. Originally, he set out to test the dosage and the safety of the gene therapy in three GSD Type 1a patients.

But later, he found a remarkable improvement in their lives. And, represented his groundbreaking findings in the 41st Annual Conference of the Association for Glycogen Storage Disease.

Related: Are you metabolically healthy? What research says?

Outcomes of the gene therapy

GSD type 1a is a rare and deadly genetic liver disorder. It can affect children from infancy to adulthood. And can lead to dangerously low blood glucose levels. So, the patient with this disease requires a constant intake of glucose for survival.

That is given in the form of cornstarch every 4 – 6 hours. Whereas, missing a dose of cornstarch can result in seizures and can even lead to death. Weinstein and his team have administered the investigational gene therapy for GSD. And found that the results are quite remarkable.

In this trial, Jerrod Watts (GSD patient) received the vaccination for GSD during a 30-minute infusion. And after one year, he was completely off of cornstarch. Additionally, he also experienced normal regulation of the BGLs, increased muscle strength, and weight loss.

Whereas, there was also a notable improvement in his energy. In short, this therapy was transforming a patient’s life. The missed doses of cornstarch no longer led to hypoglycemia. That was previously a life-threatening condition.

This gene therapy delivers a new copy of the gene to the liver using a naturally occurring virus. After administration through the bloodstream, this new copy can replace the deficit sugar enzymes that have led to GSD. And can regulate the blood glucose levels.

The results of the trial were astonishing for both Weinstein and Watts. While they were just trying to make sure that the therapy was safe for humans, the results went beyond expectations.

New hope for the GSD patients

Even in the patients who got a test dose – one-third strength – the response was dramatic. And after one year, they were able to go through the night without the need for any treatment. This result has given hope to patients with GSD. And they can sleep throughout the night without fear of dying in the middle of the night.

This gene therapy means so much for patients with GSD. And Watts is a living example that there is a light at the end of the GSD tunnel. Before treatment, Watts was taking more than 400 g of cornstarch daily. And after gene therapy, he was able to wake up 6 – 7 hours later with normal BGLs (without any treatment).

Watts said that he is a completely different person, compared to one year ago. And now, he feels like he can lead a normal life and can do anything he wishes to do. Besides Watts, two other patients involved in the clinical trial also showed promising outcomes on the lower cornstarch regimens per day.

In the future, all three patients will further participate in a four-year follow-up clinical trial study. Also, these patients have been enrolled in clinical trials that test a higher gene therapy dose. And the researchers are hoping for even more dramatic and faster results with the higher dose.



Areeba Hussain

Areeba is an independent medical and healthcare writer. For the last three years, she is writing for Tophealthjournal. Her prime areas of interest are diseases, medicine, treatments, and alternative therapies. Twitter @Areeba94789300

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