The Rare Disease Report Podcast returns! Our first episode features Karen Kozarsky, PhD, an expert on gene therapy and adrenomyelonueropathy.
In honor of Rare Disease Day, HCPLive® is excited to kickoff a new season of the Rare Disease Report® podcast series. Each month, the podcast will focus on a different rare disease by featuring an expert in the field to discuss the complexities of that condition.
The objective of this podcast is to provide a platform for expert healthcare professionals and advocates to share their knowledge, tell their story, and augment the discussion surrounding diseases that have—for too long—fallen beneath the radar.
Whether you're a primary care provider looking to expand your diagnostic approach, or you’re just interested in getting a better assessment of the rare disease landscape, there's a place for you.
For the first episode of the podcast's return, Karen Kozarsky, PhD, Chief Scientific Officer and Co-founder of SwanBio Therapeutics, shared her extensive knowledge on adrenomyeloneuropathy (AMN).
Andrenomyeloneuropathy is a form of x-linked adrenoleukodystrophy (ALD), which causes a disruption to the myelin sheath of the nerves. This occurs because of an inherited mutation of the ABCD1 gene.
This disease is included in the newborn screening panel in the US and in parts of Europe, according to Kozarsky. Now, more than half of all newborns are being tested for the disease, so they can be diagnosed as carrying the gene before they start presenting symptoms.
Typically, adrenomyeloneuropathy affects men and symptoms begin presenting in their twenties. Kozarsky said that for many patients, its changed the kind of work they can do in addition to having a substantial impact on their social and personal lives.
Within about 10-20 years of the onset, men are usually using walking aids or wheelchairs. So, by 30-40 years of age their gait and balance are affected so much that falls become a concern. Not only are the patients' mobility inhibited but they can experience severe pain.
"It's also often accompanied by incontinence, so both bowel and bladder," Kozarsky said. "And that's something that for me personally, was something I hadn't thought as deeply about until I started going to conferences and talking to patients, or hearing them talk to us."
"For me, it was personally an education about how much it affects your life," she continued. "Things as little as everywhere you go, you need to know where a bathroom is, to the incontinence being so severe that they don't really want to go out and see people at all."
If a patient isn't diagnosed as a newborn, it can take some time to get a true diagnosis. With symptoms generally presenting in their twenties, that's just the beginning of the journey.
"They're often misdiagnosed initially as having multiple sclerosis," Kozarsky said, "because it looks very similar initially, and it can be some time to figure out what is actually affecting them."
Kozarsky explained that currently, there are no treatments on the market for this inherited disorder. However, SwanBio Therapeutics announced earlier this month that their investigational new drug (IND) application for SBT101 was cleared by the US Food and Drug Administration (FDA).
According to Kozarsky, SwanBio's gene therapy candidate, SBT101, would deliver a normal copy of the defective gene to the patient's tissues. In the case of adrenomyeloneuropathy, this would be the spinal tissue.
"With the gene therapy," Kozarsky said, "what we're trying to do is really treat the root cause of the disease."