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Cat Research Could Save Humans

By Staff Editor
Jun 17, 2015 - 3:13:57 PM



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(HealthNewsDigest.com) - Porter Heatherly reclines on a couch in his home in Opelika, his feet propped on his mom's lap, while his parents talk about the disease that is taking his life.

The almost 3-year-old has gangliosidosis - or GM1 - a rare neurological disease affecting one in 350,000 people. There is no treatment. No cure. And those who are diagnosed with it are only given 24 months to live from birth.

Porter, whose sight, voice, mobility and most of his hearing was stripped by the disease, was diagnosed with GM1 when he was 4 months old, and has surpassed the diagnosis by nine months.

And today, just miles from his home, researchers at the Auburn University College of Veterinary Medicine believe they have found an effective treatment for the same rare disease in cats, and want to move to human clinical trials to treat it in children.

"That's the only hope that anybody has for this disease," said Porter's mom, Sara Heatherly. "Man. I don't know. It just puts a smile on our face. We know it's not going to help (Porter), but to have that opportunity ... people are going to have this disease. If anything, it's going to be more prevalent. To have that as an option as a possible cure is just amazing to me."

The research

For decades, Auburn researchers at the Scott-Ritchey Research Center (College of Veterinary Medicine) have researched GM1 gangliosidosis in felines, as GM1 occurs naturally in cats. Associate professor Doug Martin's research - use of gene therapy, a non-harmful viral vector to produce enzymes missing in GM1 and Tay-Sachs-related diseases - has been used to successfully treat cats who suffer from GM1. Martin and his team have successfully extended the life expectancy of cats by more than five times compared to non-treated GM1 cats.

Martin's goal is to model that same success in human clinical trials and, through research partners across the United States, successfully apply similar therapies that can do for humans what has already been done for cats.

The only known GM1 case in Alabama is Porter, who lives in Opelika with his parents, Sara and Michael. Cullman natives, the couple are high-school sweethearts and Auburn University graduates.

Researchers and the Heatherly family were connected by the national Tay-Sachs registry. And ironically, the family and Martin attend the same church, and the Heatherlys' Sunday School teacher is Porter's pediatrician. Things just fell together.

"It's a cruel disease," Martin said. "They are born healthy, and eight months is the typical onset. But the diagnosis is about 14 or 15 months old. Sara was really attentive of Porter and noticed abnormal eye movement and had him checked out. There was something in the eye called 'cherry red spot' ... and if it wasn't a symptom of GM1, it would be another storage disease. Doctors knew it would be a bad situation."

Cherry red spots are a symptom of about 14 possible diseases - Tay-Sachs and GM1 are two of them. GM1 is the more aggressive of the two, with a shorter life expectancy.

GM1, Martin said, is in a class of storage diseases, of which there are more than 40, and which also include gaucher disease and krabbe disease.

They are called storage diseases because there's abnormal buildup of material in the cell that normally would be recycled. Porter does not have the enzyme to break down the GM1.

About two-thirds of the 40 storage diseases affect the brain, and Martin said "all we have to do is modify the gene therapy so that it expresses the enzyme that's missing in that particular disease.

"It's thought that if we could find a treatment or cure for one of these diseases, then we could cure about half of the other 40."

Researchers are on track to perform clinical trials on humans by 2017, Martin said. He said GM1 was first found in cats in the 1960s, when it was noticed a cat had walking issues.

"Most research is done in mice," Martin said. But "a mouse's brain is about 1,000 times smaller than a child's brain. The cat's brain is only about 50 times smaller than the child's brain. An untreated cat with GM1 will live to about 8 months of age. Treated cats live to about five years with no major side effects."

Cats are treated through a direct injection of the brain in four different areas.

"It sounds awful," Martin said, "but Parkinson's patients have direct injections. The injection is a modified virus called adeno-associated virus (AAV). It is a small virus that you find in conjunction with the adeno virus, which is what causes the common cold."

Sara and Michael were fortunate, Martin said, because doctors took them seriously from the beginning. The disease is hereditary, requiring both parents to be carriers. The chances of two people coming together, Martin said, is one in 122,000. If they have another child, there is a 25 percent chance the child will have GM1.

Sara has one copy of the gene, and one normal copy. Michael, the same.

Porter has two copies of the GM1 mutation.

"He was born perfectly normal," Michael said of Porter. "There were no issues with the pregnancy. Sara started noticing (when he was) close to 4 months old, a twitch in his eye."

The parents thought the worst case scenario was that Porter would go blind.

"He wasn't tracking objects, so we knew that there was a problem with a vision issue," Michael said. "It was the worst problem we expected to hear, was that we would have to do something to fix his vision."

Instead, Porter peaked at about 9 months old. He rolled over, almost sat up on his own, and regressed from there.

"There's the whole community of people with these rare diseases that don't tend to get a lot of attention because they are rare," Martin said. "What I tell people is that it's only a rare disease because you haven't been affected by it. I think the research that is going on has a real opportunity to help people with this particular kind of disease, and people with other storage diseases.

"And there are a lot of similarities between this disease and say, Parkinson's. I think what we learn in this disease may apply to more common neurological diseases that people have heard of."

Caring for Porter

Porter turns 3 years old on Sept. 14. On the 14th of every month, Sara and Michael celebrate his birthday because they didn't want to have just one. Or two.

Today, they celebrate birthday No. 33. Three months ago, Michael, Sara and Porter were all the same age, at 30.

Porter lives on a liter and a half of oxygen all the time now, and has no voluntary movement in his arms unless he has a seizure. He had his first one at 17 months, and now has between 15 and 20 every day, although there is no pain, and he doesn't know it's happening.

"We try to just take the best care of him that we can," Michael said. "We've been fortunate that he hasn't had a lot of sickness. He stays (home) a lot of the time now."

Physically, Porter's growth is normal, but his parents are having a hard time keeping up with his weight. A gastrostomy tube (G-tube) inserted through his abdomen delivers nutrition to the stomach.

"He has a really enlarged liver that pushes up onto his lungs," Michael said, "making it hard for him to breathe and it's pushing up on his rib cage. That, with the low muscle tone, it's caused some scoliosis, and his sternum is protruding a little out of his chest."

While both parents work - Sara is able to stay home and work a couple of days a week - and while Hospice assists the family, and a nurse comes in a couple of nights a week to help - they say now that they know this can happen, they would do things differently if they had more children.

"Now I won't miss anything," Sara said. "It's different. There are things I know I would have taken for granted if things would have been normal."


What is GM1?

GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types.

Source: Genetics Home Reference

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