Free Republic
Browse · Search
General/Chat
Topics · Post Article

Skip to comments.

Repurposed FDA-approved drug could uncover potential treatment for rare genetic disorders
Medical Xpress / McMaster University / Human Molecular Genetics ^ | Nov. 14, 2024 | Fiona E Weaver et al

Posted on 11/23/2024 6:09:53 AM PST by ConservativeMind

In a new study, researchers have identified a potential treatment for Sandhoff and Tay-Sachs diseases—two rare, often fatal lysosomal storage disorders that cause progressive damage to nerve cells in the brain and spinal cord.

After years of investigating the diseases' underlying mechanisms, the research team has identified an existing FDA-approved drug that could significantly improve quality of life for affected patients and their families.

"Sandhoff and Tay-Sachs are devastating diseases," says Suleiman Igdoura, a professor of biology and pathology who has been researching these conditions for years. "They're marked by progressive loss of motor functions—from sitting, standing, and swallowing to even breathing—as neurons in the nervous system die. Watching someone go through this is heartbreaking."

"Patients often require intensive hospital care as symptoms worsen, and our current treatment options are severely limited," explains Igdoura.

By studying late-onset cases, Igdoura and his team uncovered that these diseases begin in the spinal cord, where chronic stress on a cellular component called the endoplasmic reticulum triggers programmed cell death. Observing the decline in spinal cord neurons in late-onset patients provided crucial insights into how the disease progresses throughout the body.

This breakthrough led to the identification of a potential therapeutic compound: 4-phenylbutyric acid (4-PBA), an FDA-approved drug initially developed for another condition. Testing in a mouse model of the disease showed that 4-PBA significantly improved motor function, extended lifespan, and increased the number of healthy motor neurons.

Igdoura and his team are optimistic that this discovery could be transformative.

Further research is underway to identify the optimal human dosage of 4-PBA.

The insights gained from studying Sandhoff and Tay-Sachs may also have broader implications, potentially informing research into other neurodegenerative diseases such as Alzheimer's and ALS.

"There may be lessons here that apply to a range of neurodegenerative conditions," Igdoura says.

(Excerpt) Read more at medicalxpress.com ...


TOPICS: Health/Medicine
KEYWORDS:
Buphenyl appears to be the brand name of this currently available drug.
1 posted on 11/23/2024 6:09:53 AM PST by ConservativeMind
[ Post Reply | Private Reply | View Replies]

To: Mazey; ckilmer; goodnesswins; Jane Long; jy8z; ProtectOurFreedom; matthew fuller; telescope115; ...

The “Take Charge Of Your Health” Ping List

This high volume ping list is for health articles and studies which describe something you or your doctor, when informed, may be able to immediately implement for your benefit.

Email me to get on either the “Common/Top Issues” (20 - 25% fewer pings) or “Everything” list.

2 posted on 11/23/2024 6:10:32 AM PST by ConservativeMind (Trump: Befuddling Democrats, Republicans, and the Media for the benefit of the US and all mankind.)
[ Post Reply | Private Reply | To 1 | View Replies]

To: ConservativeMind

I suspect there is a lot more of this neurodegenerative phenomenon than anybody realizes.


3 posted on 11/23/2024 6:33:35 AM PST by Carry_Okie (The tree of liberty needs a rope.)
[ Post Reply | Private Reply | To 1 | View Replies]

To: ConservativeMind

This is off-label use. Like Iver-wutsit used to fix the WuhanFlu.

That this drug is approved by FDA does not mean Jack-shite. That is misdirection.
Does it work? FANTASTIC! But, don’t lean on FDA’s approval. That is worthless. Those that profit on the disease continuing without cure will fight the off-label use of this drug.
Oh, you don’t think that “medical specialists” would oppose a treatment? That they would rather continue profiting from suffering? C’mon, look at all the parasites profiting from the tranny BS.


4 posted on 11/23/2024 8:27:04 AM PST by bobbo666
[ Post Reply | Private Reply | To 1 | View Replies]

Disclaimer: Opinions posted on Free Republic are those of the individual posters and do not necessarily represent the opinion of Free Republic or its management. All materials posted herein are protected by copyright law and the exemption for fair use of copyrighted works.

Free Republic
Browse · Search
General/Chat
Topics · Post Article

FreeRepublic, LLC, PO BOX 9771, FRESNO, CA 93794
FreeRepublic.com is powered by software copyright 2000-2008 John Robinson