World’s first gene therapy for glycogen storage disease produces remarkable results

At the Association for Glycogen Storage Disease’s 41st Annual Conference, Dr. David Weinstein of UConn School of Medicine and Connecticut Children’s presented his groundbreaking, one-year clinical trial results for the novel gene therapy treatment for glycogen storage disease (GSD).

The rare and deadly genetic liver disorder, GSD type Ia, affects children from infancy through adulthood, causing dangerously low blood sugar levels and constant dependence on glucose consumption in the form of cornstarch every few hours for survival. If a cornstarch dose is missed, the disease can lead to seizures and even death.

Weinstein, whose team first administered the investigational gene therapy at UConn John Dempsey Hospital in Farmington, Connecticut, on July 24, 2018, calls the results “remarkable.”

One year after patient Jerrod Watts first received the GSD vaccine during a 30-minute infusion, he is completely off of cornstarch. In addition to totally stopping daily cornstarch consumption, Watts has experienced normal regulation of his blood glucose levels, weight loss, increased muscle strength, and marked improvement in his energy.

“The clinical trial is going better than expected. The therapy is transforming patient lives,” says Weinstein. “We have seen all of the patients wean their therapy with some already discontinuing treatment. Missed cornstarch doses no longer are resulting in hypoglycemia, which previously could have been life threatening.”

Weinstein, the clinical trial’s lead investigator, is pediatric endocrinologist-scientist who cares for more than 700 GSD patients from 51 countries as director of the Glycogen Storage Disease Program at Connecticut Children’s and UConn Health — the largest center in the world for the care and treatment of this condition.

The clinical trial, conducted in conjunction with the biopharmaceutical company Ultragenyx, originally set out to simply test the safety and dosage of the gene therapy for three patients with GSD Type Ia.

The gene therapy works by delivering a new copy of a gene to the liver via a naturally occurring virus. Administered through the patient’s bloodstream, the new copy replaces deficient sugar enzymes caused by the disease and jump starts the body’s glucose control.

Both Weinstein and Watts were surprised by Watts’ response to the gene therapy.

“We were just making sure it was safe for humans to take, that was our initial goal. The results are way beyond my imagination,” says Weinstein. “The patients who are finishing the first year got what we all thought was a test dose — one-third strength — yet the response has been dramatic. They can now go through the night without any treatment and they wake up clinically well.”

Prior to the treatment, Watts was consuming more than 400 grams of cornstarch per day. The GSD Program’s multidisciplinary team at Connecticut Children’s provides comprehensive clinical care to patients, while the program’s research laboratories and clinical trial are located at UConn School of Medicine at UConn Health.

“The main thing I want to do is inspire hope. One of the biggest reliefs from this gene therapy is I can now sleep through the night without worrying about dying in the middle of the night. I wake up 6 to 7 hours later with normal blood sugar.”

“I’m living, breathing proof that there is a light at the end of the tunnel with GSD. I’m a completely different person now that I was a year ago. I feel like I can live a normal life and I can do anything I want to do now,” says Watts.

His message to other patients: “Please don’t give up hope.”

In addition to Watts, two other clinical trial cohort patients are seeing promising results on the lower cornstarch daily regimens. All three will participate in the next phase — a 4-year follow-up clinical trial study. In addition, three patients are enrolled in clinical trial testing a higher gene therapy dose.

“What’s exciting is if it works this well with the low dose, what does the future hold?,” says Weinstein.” If the patients are already coming off cornstarch and the labs are getting better, we just hope it will be even faster and more dramatic with the higher dose.”

“This gene therapy treatment is something we’ve worked on for 21 years. This means so much to the glycogen storage disease community,” says Weinstein. “To see patients off cornstarch and doing so well really is a culmination of an incredible journey … We feel like we’re living history.”

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Efforts to cut sugar out of food way off target

Soft drinks have 29% less sugar on average since a levy was imposed, but we’re eating more sugary food.

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More Celebrities Are Using Energy Healing—But Does It Work?

In the past few years, the field of energy healing has pretty much exploded—but there’s a ton of confusion around it, too. What is it, exactly? Are there credible studies on it? And isn’t it just a little bit…woo-woo?

Let’s start with the definition: Energy medicine (or biofield therapies) is the act of channeling and manipulating the energy that courses through your body in order to heal it. This can be done with hands-on practices, such as acupuncture and Reiki, as well as sensory-based experiences, like the use of crystals, sound baths, and aromatherapy.

Once derided as too mystical, energy medicine is becoming more common—trendy, even. Adele reportedly said that she performs better when she holds crystals. Kim Kardashian West visited a local energy healer while on vacation in Bali. And some elite athletes in the NFL and NBA now bring Reiki masters on the road. Increasingly, scientists are starting to take energy medicine seriously too.

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The medical theory

Energy practitioners believe that your body is instilled with a subtle energy, or animating life force, the flow of which must be balanced for good health. In Traditional Chinese Medicine, this force is called qi (pronounced “chee”); in Ayurvedic medicine, which originated in India, it’s represented in the doshas, three energies (vata, pitta, and kapha) that provide every person’s makeup. The basis of energy medicine is removing blocks in your body’s energetic field that can cause poor health.

Energy medicine has been around for thousands of years—a description of the “laying on of hands” to relieve pain was found in an ancient Egyptian papyrus document from 1550 BC. But even with its long history, people find it hard to wrap their heads around energy medicine, says acupuncturist and Chinese medicine doctor Jill Blakeway, author of the recent book Energy Medicine: The Science and Mystery of Healing. This is not helped by the fact that this field is, as she says bluntly, “rife with quackery.” Anyone can basically call him- or herself an energy healer, says Blakeway, a funny, forthcoming Brit who works with MDs and is the opposite of woo-woo. “While practitioners of Traditional Chinese Medicine are licensed and do either a four-year masters or a five-year doctorate, there are no minimum standards for most other types of energy work.”

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Yufang Lin, MD, an integrative medicine physician at the Cleveland Clinic who is trained in Reiki and qigong, explains to her patients that energy is the foundation for everything we do with our bodies. “The idea is that we have this bank of energy, and we have to restore it or replace it,” she says. “In Chinese medicine and Ayurveda, if the energy isn’t flowing well, we get sick.”

We’ve all picked up on other people’s energy when we say that a person has good vibes, or negative energy. “You can absolutely feel it,” says Judith Orloff, MD, an energy healer from Santa Monica, California, and a psychiatrist on the UCLA clinical faculty. Most of us have experienced what Orloff calls an energy hangover: “That’s when the energy of an interaction or an event lingers the next day when you wake up,” she says, “and it literally feels like a hangover.”

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Gathering evidence

These days, it seems like everyone in the wellness world is heading into the mystic. But it’s not just trendy spirit warriors who have energy healers on speed dial—some of the country’s best hospitals are hiring them too. The Memorial Sloan Kettering Cancer Center and Duke University Health System employ acupuncturists, while Reiki masters are available at the Mayo Clinic’s campus in Rochester, Minnesota. UCSF Medical Center offers qigong for breast cancer survivors, and NewYork-Presbyterian provides aromatherapy for stress reduction.

Some forms of energy medicine are backed by research. Acupuncture, for example, is supported by solid studies. And a 2010 review of research in the International Journal of Behavioral Medicine found strong evidence that biofield therapies, such as Reiki and therapeutic touch, can alleviate pain, and moderate evidence that they could reduce anxiety in hospitalized patients.

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Yet for many energy therapies, scientific evidence is still lagging. One reason is that large, carefully controlled medical studies are costly—and often funded by big companies that develop drugs. “With something like Reiki or therapeutic touch, there’s nothing to sell,” says Dr. Lin.

But as demand grows, more studies are being commissioned. In its most recent strategic plan, the National Center for Complementary and Integrative Health—the government’s lead agency for research on nonconventional medicine—deemed “nonpharmacologic management of pain” a top scientific priority.

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The power of belief

Of course, it’s entirely possible that some of the healing benefits patients report arise from the so-called placebo effect—in which the brain convinces the body that a particular treatment will work, and then it actually does.

The placebo effect once had a negative connotation, but now scientists are discovering what a powerful mechanism it can be. Essentially, placebos trigger a relaxation response, which appears to allow the body an opportunity to self-heal. How the effect works, exactly, is still a mystery, but it may involve a burst of feel-good neurotransmitters like dopamine and endorphins, as well as amped activity in certain brain regions linked to emotional reactions.

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In a groundbreaking 2017 study at the University of Luxembourg, participants were given a placebo and told it would reduce their pain. Researchers then scanned the participants’ brains and found that areas that processed pain were actually less active than normal. The subjects felt less pain not because they had great imaginations, but because they weren’t registering it.

Even Blakeway admits that energy healing likely contains an element of placebo. But as she points out, if it’s functioning as part of the healing process, why fear it?

Energy healing may also help people by reducing their stress—which is no small thing. Stress is a common underlying factor in many diseases. Studies have found that 75 percent to 90 percent of primary care visits can be attributed to the effects of stress, and it’s linked to the six leading causes of death in the U.S.

RELATED: What Is Homeopathic Medicine, and Why Is the FDA Cracking Down On It?

The relaxing benefits of acupuncture are well-known. Blakeway’s patients sometimes ask her, “What do you put in the needles?” They become so calm during her sessions, they assume she’s coated her needles with a sedative.

Dr. Lin says that when she was in med school, she was taught a simple formula: Identify a disease by listening to the symptoms, then treat it with drugs. Now that she has moved into energy healing, the first question she tries to answer is, What is triggering the illness? “Then we try and remove that trigger.”

Energy healing requires you to listen carefully to what your body is telling you, adds Dr. Orloff. “That’s really the beauty of it. It’s about tapping into your own intuition and ability to heal.”

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Therapies with cred

All kinds of approaches get thrown into the energy bucket—from color therapy to intuitive healing—but these five have gained the most traction.

Acupuncture

The research is probably most robust around acupuncture, which has been used for more than two millennia in Chinese medicine. The practice involves inserting thin needles at specific points to improve the overall movement of qi through the body. It’s believed that there are energy networks—called meridians—through which qi travels. Most meridians correspond to a major organ (like the lungs, or the stomach), and most acupuncture points lie on those meridians.

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Many Western doctors now believe that stimulation from the needles boosts endorphins, a.k.a. your body’s natural painkillers. In studies, acupuncture has been linked to relief of fibromyalgia pain, low-back pain, migraines, and osteoarthritis. It’s also been found to improve fertility rates and lower hypertension. And one 2013 study published in the Journal of Alternative and Complementary Medicine found that electroacupuncture—in which a mild electric current is transmitted through needles—was as effective as Prozac in reducing symptoms of depression.

Acupuncture is a holistic approach, says Debbie Lamadrid, an acupuncturist at the Mayo Clinic in Phoenix. “The goal in Chinese medicine is to address the entire person, not just their symptoms.”

Qigong

An ancient Chinese healing technique, qigong is used to cleanse, cultivate, and strengthen a person’s qi. In what’s known as external qigong, or qi emission, a therapist diagnoses problems according to the principles of Traditional Chinese Medicine, and then uses “emitted qi” to heal. This may involve placing the hands several inches above the body to administer healing qi and remove negative energy. She will also recommend a program to rebalance one’s qi, which may involve breathing techniques and meditation.

While there’s not a lot of research to support external qigong, a 2013 University of Texas study did find that it reduced symptoms of depression among women undergoing radiation for breast cancer.

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Reflexology

According to Chinese medicine, your feet, palms, and ears are energy centers, and they are connected—via meridians—to other body parts. (Your toes reflect your head, for example, and your palms are linked to your kidneys.) When points within those energy centers are stimulated, they can improve energy circulation and rejuvenate corresponding areas elsewhere in the body.

Reflexology also brings on blissfully deep relaxation. (One reason foot reflexology is so calming is that there are nearly 15,000 nerves in your feet.) Research on the practice is nebulous, but a 2016 Israeli study did find that when patients facing major surgery were given reflexology before the operation, their anxiety levels dropped dramatically—and their outcomes after surgery improved, too.

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Reiki

In the practice of Reiki—the name is formed from the Japanese words rei (spirit) and ki (vital force)—healers put their hands on or right above your body (which in most cases is fully clothed) in order to direct energy.

As of 2014, more than 60 hospitals in the U.S. included Reiki as part of patient services, according to a UCLA study, and Reiki education was offered at 800.

Vickie Bodner, a licensed massage therapist and Reiki master at the Cleveland Clinic Wellness Institute, says that patients usually come to her for physical and emotional pain, such as fibromyalgia, immune system issues, or depression. It’s also good for stress relief. (A Reiki station was set up in New York City after 9/11 to treat firefighters and other first responders.) “Patients find it comforting, calming, and soothing,” says Bodner.

RELATED: This Woman Died After an 'Acupuncture' Therapy Session That Uses Live Bee Stings Instead of Needles

Therapeutic touch

Developed in the ’70s by a professor of nursing at NYU, therapeutic touch, or TT, is used by practitioners (many of them nurses) to sense your body’s energy. According to the principles of TT, there are eight regions where energy is concentrated: the head, throat, stomach, heart, lower abdomen, sacral region, knees, and feet.

If the therapist finds an area where energy is not flowing, she will move her hands in a rhythmic motion known as unruffling, starting at the top of the congested area and moving down and away from your body. She’ll continue until she no longer detects a blockage or the patient feels relief.

A 2012 study done at the University of Kentucky Markey Cancer Center found that just one TT session led to improvement in pain, stress, and nausea in cancer patients.

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Why Do People Lie? We Asked an Expert

I'd be lying if I said I hadn't told some fibs in my life.

"I wish I could go, but I'm busy" is code for "I would rather be home on my couch." And "Sorry, I forgot to reply" is really me saying "Sorry, I was avoiding you." (Part of me is hoping that admitting this doesn't totally undermine my credibility, but another part is sure that a lot of people reading this can relate.)

Those are what I consider to be white lies, or "a lie about a small or unimportant matter that someone tells to avoid hurting another person," according to Merriam-Webster. It's not that I get some kind of enjoyment out of being dishonest. I'm just being polite…right?

Well, as I learned while reporting this article, many experts would disagree. They would say my motives go beyond being courteous. 

Robert Feldman, PhD, a professor of psychology at University of Massachusetts Amherst, studies "verbal deceit." He tells me the biggest reason people are dishonest is that "lying is a very effective social tactic." He adds, "People don't expect to be lied to; the expectation is that they're hearing the truth from others, and so that allows people who are lying to often get away with it."

Here, Feldman explains seven reasons why people spin the truth—from telling white lies to compulsively lying.

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To flatter people

Feldman says flattery is one of the most common forms of deceit, which doesn't seem very surprising. How many times do people say "Be honest!" when you tell them you love their new haircut? People are skeptical of flattery because they know it's not always sincere. Someone may give you a false compliment to befriend you, avoid awkwardness, persuade you to do them a favor, get you to confide in them, and more. 

To avoid awkwardness

This is one I'm all too familiar with, as I explained above. I mean, I have no problem telling my close friends that I would rather stay home in my pajamas than go out to a bar on a Friday night. But when it comes to people I'm not as comfortable with, I'll go with the old, "I wish I could go, but I'm busy." Feldman says lying to avoid awkwardness comes back to a want to be liked by others and to not disappoint anyone. Sounds about right. 

RELATED: What It Means to Be a High-Functioning Sociopath—and How to Tell If You Know One

To influence others

"People lie to get others to do what they want them to do," Feldman says. He uses the example of a salesman. For our purposes, let's say the salesman is hawking a facial cleanser. They might rave about the cleanser, saying they had acne their whole life, and nothing worked to clear it until they found this product, the holy grail of facial cleansers. It changed their life. And it can change yours. Is it true? Probably not. Is it an effective tactic? Often yes.  

To avoid a negative outcome

Think of a child who broke a glass, Feldman says. When their parent asks if they broke the glass, they're probably going to say no, even though it's an obvious lie. "As we get older, we learn to be better liars," Feldman says, meaning people continue to lie to protect themselves, but it's much harder to know for sure that they're being dishonest. People will also lie to protect others, like if the child's older sibling says they saw the dog knock the glass over…even though they know it was their sibling. 

RELATED: Narcissistic Abuse Is the Scary New Kind of Emotional Abuse You Need to Know About

To achieve a positive outcome 

People may lie to get an outcome they want for themselves or others, Feldman says. Overstating experience on a resume or in a job interview is a classic way people lie to get what they want. The same goes for a person who's trying to help their friend get hired at their company. (Because who doesn't want a friend in the office?) They may overstate their friend's experience to the hiring manager, saying how successful and personable they are, to increase their chances of landing the position—and landing themselves a coworker they already get along with.

To make yourself look more impressive

"People want others to like them, to admire them, to be impressed by them," Feldman says. "In some cases, a person may even want to intimidate other people." A manager, for example, might exaggerate their previous successes to keep colleagues from challenging their decisions. And let's not forget Anna Delvey, who passed herself off as a German heiress to impress socialites and live the high life…mostly on their dime.

To maintain a previous lie

Lies have a snowball effect, Feldman says. "If you lie about something small initially, in order to maintain that lie, you sometimes have to lie in bigger and bigger ways." This is something I've seen played out in TV shows, movies, books, and even real life. No lie is too small to get you caught in a web—which is why honesty, as they say, is the best policy. 

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Health24.com | Could you be having a heart attack?

We tend to think of heart attacks as they’re shown in movies, as massive, chest-crushing events, typically affecting older men. But that’s not the only case – far from it.

Research published in the Journal of the American Heart Association found that, even though women get heart attacks less often than men, they have a higher percentage of “silent” heart attacks, those that occur without noticeable symptoms. They’re often discovered later on, through a routine EKG.

Some men may not even realise that they’re having a heart attack because they have a high pain threshold. For women, it could also be that they don’t get severe chest pain, but rather symptoms like shortness of breath, pain in the back or jaw, or nausea.

Because the signs and symptoms of a heart attack can vary so much from one person to another, it’s important to know all of them.

Possible heart attack symptoms

  • Feeling pressure, tightness or squeezing in the chest, arms, neck, jaw and/or back
  • Shortness of breath
  • Heartburn, indigestion or stomach pain
  • Nausea or vomiting
  • Breaking into a cold sweat
  • Fatigue
  • Suddenly feeling lightheaded or dizzy

Never ignore symptoms, no matter what your sex or age. Even though heart attacks tend to occur in people over 50, up to 10% happen before age 45, mostly in younger men.

Also, even when silent, heart attacks can do damage.

That’s why some experts recommend routine EKGs for people with heart disease risk factors even if they’ve never had chest pain.

Remember that a heart attack is an emergency. Call 911 right away – don’t attempt to drive yourself or even be driven by a loved one.

EMTs can start care as soon as they reach you, and that’s usually a lot faster than you could reach a hospital on your own.

Image credit: iStock

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Health24.com | Why a drink a day might be good for diabetics’ health

Chinese researchers may deserve a toast for their new findings that suggest light to moderate drinking may be beneficial for people with type 2 diabetes.

The review found that people who had a bit of alcohol daily had lower levels of a type of blood fat called triglycerides. But alcohol didn’t seem to lower blood sugar levels in people who already had type 2 diabetes, the review found.

Too much of a good thing

The research did show lower levels of insulin and improved insulin resistance in people who drank light to moderate amounts of alcohol, study lead author Yuling Chen said. Chen is a medical student at Southeast University in Nanjing, China.

That finding suggests that “light to moderate alcohol consumption might protect against type 2 diabetes,” Chen said.

But Chen cautioned that you can have too much of a good thing: “High alcohol consumption is reported to be a risk factor for diabetes.”

The authors said light to moderate drinking is about 20 grams of alcohol daily. That’s about 1.5 cans of beer, a large glass of wine (almost 7 ounces), or a generous shot (1.7 ounces) of distilled spirits.

The American Diabetes Association recommends that people who drink alcohol do so in moderation – no more than one drink per day for adult women and no more than two drinks per day for adult men.

Dangerously low blood sugar

Dr Joel Zonszein, director of the Clinical Diabetes Center at Montefiore Medical Center in New York City, said those are the levels he recommends to his patients with type 2 diabetes.

“A little alcohol can be good for you, and that’s no different in patients with type 2 diabetes,” he said.

One caveat, Zonszein said, is that people with type 1 diabetes and anyone with type 2 who is taking insulin or other medications that can cause low blood sugar levels must be more cautious with alcohol. It can sometimes lead to dangerously low levels of blood sugar (hypoglycaemia).

But not all type 2 diabetes medications are a concern with alcohol. For example, he said, it’s OK to have a drink if you’re taking a commonly used type 2 diabetes drug called metformin.

Zonszein shared Chen’s concern about too much alcohol.

“Excessive drinking is a problem,” he said, noting that too much alcohol can raise triglycerides and lead to serious health concerns, such as pancreatitis.

A drop in triglyceride levels

For the new research, Chen and colleagues reviewed 10 previous randomised controlled trials on people with type 2 diabetes. Those studies had a total of 575 volunteers.

A number of factors related to diabetes and health were measured, including blood sugar control, insulin levels, insulin resistance, cholesterol and triglycerides.

Across the studies, researchers found a drop of nearly 9mg per decilitre (mg/dL) in average triglyceride levels. A normal triglyceride level is less than 150 mg/dL, according to the US National Institutes of Health. A high level of triglycerides is associated with a higher risk of heart disease.

Researchers also saw decreases in insulin levels and in a measure called HOMA-IR that assesses insulin resistance. Chen said these findings suggest “relieved insulin resistance in type 2 diabetes patients”.

The authors are scheduled to present the findings at a meeting of the European Association for the Study of Diabetes, in Barcelona, Spain. Findings presented at meetings are typically viewed as preliminary until they’ve been published in a peer-reviewed journal.

Image credit: iStock

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Health24.com | WATCH: This ‘human cheese’ is made from celebrity armpit bacteria

Stringr

While some people would pay an excessive amount to meet their favourite celebrities in real life, others are more daring and would be willing to go to any lengths to have something from the celebrity such as clothing items, discarded tissues and even a bag of air.

If you’re really dedicated, this “human cheese” is made in a lab and comes from the bacteria found in celebrities armpits, noses and bellybuttons. 

Image credit: iStock

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