New Treatments for Rare Monogenic Neurological Disorders
In This Video
- Florian Eichler, MD, is the director of the Leukodystrophy Service at Massachusetts General Hospital
- In this video, Dr. Eichler discusses his research focused on rare, single-gene neurological disorders that have a devastating impact on patients’ lives
- He highlights his successful gene therapy clinical trial in boys with cerebral adrenoleukodystrophy, where the large majority of these children stabilized over a two-year period
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Florian Eichler, MD, is the director of the Leukodystrophy Service at Massachusetts General Hospital. In this video, Dr. Eichler discusses his research focused on rare, single-gene neurological disorders that have a devastating impact on patients’ lives. He highlights his successful gene therapy clinical trial in boys with cerebral adrenoleukodystrophy, where the large majority of these children stabilized over a two-year period.
Transcript
Our program is focused on rare neurological disorders. These are single gene disorders that are often progressive and have a devastating impact upon patient's lives.
The disorder of childhood cerebral adrenoleukodystrophy is single gene disorder that affects boys between the ages of four and 10. It causes brain inflammation that spreads throughout the white matter of the brain. These boys suffer progressive neurologic decline, either vegetative or dead within a two-year period.
We figured out a way to harvest the bone marrow cells of these boys, correct them in a dish, delivering a healthy copy of the faulty gene into those bone marrow cells, delivering the cells back to the boys and we found that this had a profound impact upon them. And that the large majority of these boys stabilized over a two-year period.
More than half of these boys in this multicenter trial were treated here in Boston at Massachusetts General Hospital, and we're extremely pleased to have an impact upon this devastating disease that's been around for a hundred years, but this is the first time we were able to correct the gene in this disorder.
So what can be generalized from single gene disorders that we have worked on such as adrenoleukodystrophy is exactly that. The fact that many of these devastating disorders have a disease-causing gene, if you understand it, if you understand how to correct it, if you can develop a biomarker out of that and if you bring into this the clinical expertise around natural history and decline, you can design a trial very quickly and help address the unmet need that has existed for so many decades.
But beyond that, we are recognizing that within common neurologic disorders, there are similarly single genes that also have a big impact. Hence, if we can conduct trials in monogenic disorders, do that safely and effectively, we have the chance to do this also in common neurologic disorders, and I think this is going to really be transformative in the coming decades.
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