Health Journal Online

Tag: Gene

  • Gene Therapy for Children With Rare ‘Bubble Boy Disease’ Proves Effective After Long-Term Follow-Up

    Gene Therapy for Children With Rare ‘Bubble Boy Disease’ Proves Effective After Long-Term Follow-Up

    The 62 children who were found to have the rare “Bubble Boy disease” as babies and toddlers between 2012 and 2017 still seem cured after long-term follow-up, after being treated with a genetic therapy for severe combined immunodeficiency.

    The results of the trial noted that by 2019, 95 percent of the children, which equates to all but two of the young patients, showed complete immune system reconstruction. And now, years later, long-term follow-up results show that the therapy is still 95 percent effective.

    Treatment for Children With Rare “Bubble Boy Disease”

    In a statement, a pediatric transplant physician at the University of California, Los Angeles, Donald Kohn, MD, said that the durability of immune function, the consistency over time, and the continued safety profile among the children were all encouraging.

    Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) is typically caused by mutations in an individual’s ADA gene. This gene is responsible for creating an enzyme that is essential for a person’s immune function, according to Good News Network.

    For kids who have this rare condition, typical daily activities, such as going to school or playing with friends, can result in dangerous, life-threatening infections. If left untreated, ADA-SCID can even be fatal within an infant’s first two years of life.

    SCID suddenly became well-known in America in 1984 because of “the boy in the bubble,” David Vetter. He received a special spacesuit from NASA that allowed him to leave his total medical isolation and see the world. However, despite this suit, the boy passed away due to an infection when he was 12 years old.

    The researchers who led the multi-center program related to the cured children said that the persistence of healthy immune systems and results of long-term follow-up should be taken as signs that the approach could become a standard treatment for individuals with ADA-SCID, Science Media Centre reported.

    An Effective Approach

    The families whose lives were previously defined by the strict isolation of affected individuals are now able to describe ordinary childhood milestones that they would never have dreamed were possible.

    The gene therapy in question is a treatment that was tested by researchers at UCLA in collaboration with institutions in the United Kingdom. It takes a personalized, cell-based approach to correct an individual’s genetic defect.

    The first step in the process is doctors collecting a child’s hematopoietic stem cells from their bone marrow or blood. Then, a laboratory team uses a modified viral vector to deliver a healthy copy of the ADA gene into those stem cells. Finally, those corrected stem cells are returned to the patient, where they then engraft and produce a continual supply of functional immune cells, as per the Valley Vanguard Online.



    Originally published on parentherald.com

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  • First Successful Gene Therapy for Huntington’s Disease Slows Disease Progression by 75%

    First Successful Gene Therapy for Huntington’s Disease Slows Disease Progression by 75%

    An experimental gene therapy developed by uniQure has, for the first time, shown a dramatic slowing of Huntington’s disease progression in human patients, offering hope for a condition long considered incurable.

    How the Trial Worked

    The therapy, called AMT-130, was administered via a one-time neurosurgical procedure lasting 12 to 20 hours using a modified viral vector to deliver corrective DNA to regions of the brain affected by the disease. Patients treated with a high dose saw their disease progress 75% more slowly over a 36-month period compared to matched external controls. Secondary outcomes showed a 60% slower decline in functional abilities. The treatment was generally well-tolerated, with no major new safety concerns reported.

    Sarah Tabrizi, director of UCL’s Huntington’s Disease Centre, said these findings mark “We now have a treatment for one of the world’s more terrible diseases. This is absolutely huge. I’m really overjoyed.” uniQure now plans to submit a Biologics License Application (BLA) to the U.S. Food and Drug Administration in early 2026.

    Regulatory Advances & Future Steps

    Earlier in 2025, the FDA granted AMT-130 Breakthrough Therapy designation, which may expedite review and regulatory pathways. In a regulatory update, uniQure disclosed that it is aligning key analytic and manufacturing plans with FDA guidance ahead of the BLA submission.

    The company intends to use external control data sets, like ENROLL-HD, for primary comparisons in its statistical analysis plan.

    Why This Breakthrough Is So Significant

    • Disease-modifying therapy: Until now, Huntington’s treatments have only addressed symptoms; AMT-130 indicates the possibility of altering disease trajectory.
    • One-time administration: Because it is delivered via a single surgical procedure, its benefits—if durable—could last years without repeated dosing.
    • High unmet need: In the U.S., about 41,000 people live with Huntington’s and over 200,000 carry risk alleles.
    • Scientific validation: The magnitude of effect in this trial is among the most convincing in neurodegenerative disease research to date.

    How AMT-130 Compares to Other Gene Therapies

    AMT-130’s approach—one-time neurosurgical delivery of a vector designed to suppress the mutant huntingtin protein—is somewhat unique among genetic therapies, in both delivery method and disease target.

    Here are some points of comparison:

    Therapy Mode of Delivery / Regimen Indication / Age Group Key Strengths Known Limitations / Risks
    AMT-130 (uniQure) Single stereotactic brain surgery (direct striatal infusion) Early-manifest Huntington’s disease Promising stabilization of function, one-time treatment, demonstrable biomarker improvements Surgical risks, inflammatory complications, durable long-term efficacy unknown
    Zolgensma (Onasemnogene abeparvovec-AVXS-101) Single intravenous or intrathecal in some trials Spinal Muscular Atrophy (infants and older children) Has shown dramatic improvements in survival, motor function; among best-known successful gene therapies Very high cost, immune reactions, limited age window, administration logistics
    Nusinersen (Spinraza) Repeated intrathecal injections (ongoing) SMA across age groups Reduces disease burden, extends life, widely used; well-understood safety profile Requires regular dosing, invasiveness, burdens on patients/caregivers, cost

    Cautions and Limitations

    • Not a cure: While the slowing is impressive, it does not reverse the disease or fully stop its course.
    • Surgery risk and cost: The invasive nature and complexity of delivery limit its applicability, especially in less capable surgical settings.
    • Long-term durability unknown: Whether the effect holds beyond three years remains to be seen.
    • Regulatory and access hurdles: Approval does not guarantee access, and pricing, reimbursement, and manufacturing scale remain major challenges.

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  • Dr. Michael Piepkorn on How the Discovery of the p16 Gene Transformed Familial Melanoma Diagnosis

    Dr. Michael Piepkorn on How the Discovery of the p16 Gene Transformed Familial Melanoma Diagnosis

    The discovery of the p16 gene was a significant turning point in understanding familial melanoma. This development was primarily responsible for enhancing genetic counseling for families at higher risk. Testing for expression of the p16 gene product in tumors suspected of being melanoma assists in the accuracy of biopsy diagnosis.

    Dr. Michael Piepkorn, a dermatologist and dermatopathologist recognized for his work in the field of melanoma over many years, has been an advocate for the role of p16 in melanoma diagnosis and in gene analysis in improving the management of melanoma-prone families. His expertise and research have helped clarify how inherited mutations influence melanoma risk and how genetic testing can guide prevention strategies.

    Understanding the p16 Gene and Its Role in Melanoma Risk

    The p16 gene, also known as CDKN2A, is a tumor suppressor gene that plays a critical role in controlling cell growth. Mutations in this gene can lead to an increased likelihood of developing melanoma, particularly in families with a history of the disease.

    Unlike traditional diagnosis, which focuses on detecting melanoma after it occurs, the identification of germline mutations in p16 allows clinicians to assess inherited risk. This distinction helped usher in a new era for preventive care tailored to individuals carrying such mutations.

    Screening for Germline Mutations in Families

    Screening for mutations in the p16 gene became feasible with advancements in genetic testing. When a mutation exists in one copy of the gene, it is present in almost every cell of the body. This is because such anomalies are inherited from a parent through one of the two germ cells at conception.

    Testing for these germline mutations can be conducted using blood samples or buccal swabs, which collect cells from the inside of the cheek. This approach enables early identification of at-risk individuals before melanoma develops, allowing for closer monitoring and timely intervention.

    Databases Linking Specific Mutations to Melanoma Risk

    Extensive research and data collection have helped in the development of databases that correlate particular p16 mutations with varying degrees of lifetime melanoma risk. These resources provide valuable insights into how much a given mutation elevates an individual’s risk beyond the baseline population level.

    This information is essential for genetic counselors. With the information they now have access to, they can advise families on the best preventive measures, surveillance plans, and lifestyle modifications to mitigate melanoma risk.

    Commercial Testing Services and Their Impact

    Companies such as Myriad Genetics in Salt Lake City have played a significant role in making p16 genetic testing widely accessible. By offering comprehensive panels to detect inherited melanoma risk factors, these services support healthcare providers in delivering personalized genetic counseling.

    Dr. Michael Piepkorn himself has recognized the importance of these advancements, emphasizing that accurate and timely genetic testing is a cornerstone of effective familial melanoma management.

    Advancing Melanoma Care Through Expertise and Innovation

    Dr. Michael Piepkorn‘s career spans decades of dedicated research and clinical work in melanoma and dermatopathology. His involvement in identifying the p16 gene’s role in familial melanoma has influenced how genetic information is integrated into patient care. Through teaching, mentoring, and ongoing research, he continues to support innovations that improve early detection and prevention strategies.

    The discovery of the p16 gene transformed the approach to familial melanoma by enabling genetic counseling based on inherited risk rather than reactive diagnosis. Supported by experts like Dr. Michael Piepkorn, this advancement allows families to understand their melanoma risk better and take proactive steps to manage it. As genetic testing technologies evolve, the ability to identify and mitigate inherited melanoma risk will become increasingly precise and medically significant.

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  • Eating to Downregulate a Gene for Metastatic Cancer 

    Eating to Downregulate a Gene for Metastatic Cancer 

    Women with breast cancer should include the “liberal culinary use of cruciferous vegetables.”

    Both the Women’s Intervention Nutrition Study and the Women’s Health Initiative study showed that women randomized to a lower-fat diet enjoyed improved breast cancer survival. However, in the Women’s Healthy Eating and Living Study, women with breast cancer were also randomized to drop their fat intake down to 15 to 20 percent of calories, yet there was no difference in breast cancer relapse or death after seven years.

    Any time there’s an unexpected result, you must question whether the participants actually followed through with study instructions. For instance, if you randomized people to stop smoking and they ended up with the same lung cancer rates as those in the group who weren’t instructed to quit, one likely explanation is that the group told to stop smoking didn’t actually stop. In the Women’s Healthy Eating and Living Study, both the dietary intervention group and the control group started out at about 30 percent of calories from fat. Then, the diet group was told to lower their fat intake to 15 to 20 percent of calories. By the end of the study, they had in fact gone from 28.5 percent fat to 28.9 percent fat, as you can see below and at 1:16 in my video The Food That Can Downregulate a Metastatic Cancer Gene. They didn’t even reduce their fat intake. No wonder they didn’t experience any breast cancer benefit. 

    When you put together all the trials on the effect of lower-fat diets on breast cancer survival, even including that flawed study, you see a reduced risk of breast cancer relapse and a reduced risk of death. In conclusion, going on a low-fat diet after a breast cancer diagnosis “can improve breast cancer survival by reducing the risk of recurrence.” We may now know why: by targeting metastasis-initiating cancer cells through the fat receptor CD36.

    We know that the cancer-spreading receptor is upregulated by saturated fat. Is there anything in our diet that can downregulate it? Broccoli.

    Broccoli appears to decrease CD36 expression by as much as 35 percent (in mice). Of all fruits and vegetables, cruciferous vegetables like broccoli were the only ones associated with significantly less total risk of cancer and not just getting cancer in the first place, as you can see here and at 2:19 in my video.

    Those with bladder cancer who eat broccoli also appear to live longer than those who don’t, and those with lung cancer who eat more cruciferous veggies appear to survive longer, too.

    For example, as you can see below and at 2:45 in my video, one year out, about 75 percent of lung cancer patients eating more than one serving of cruciferous vegetables a day were still alive (the top line in red), whereas, by then, most who had been getting less than half a serving a day had already died from their cancer (the bottom line in green).

    Ovarian cancer, too. Intake of cruciferous vegetables “significantly favored survival,” whereas “a survival disadvantage was shown for meats.” Milk also appeared to double the risk of dying. Below and at 3:21 in my video are the survival graphs. Eight years out, about 40 percent of ovarian cancer patients who averaged meat or milk every day were deceased (the boldest line, on the bottom), compared to only about 20 percent who had meat or milk only a few times a week at most (the faintest line, on the top). 

    Now, it could be that the fat and cholesterol in meat increased circulating estrogen levels, or it could be because of meat’s growth hormones or all its carcinogens. And galactose, the sugar naturally found in milk, may be directly toxic to the ovary. Dairy has all its hormones, too. However, the lowering of risk with broccoli and the increasing of risk with meat and dairy are also consistent with the CD36 mechanism of cancer spread.

    Researchers put it to the test in patients with advanced pancreatic cancer who were given pulverized broccoli sprouts or a placebo. The average death rate was lower in the broccoli sprout group compared to the placebo group. After a month, 18 percent of the placebo group had died, but none in the broccoli group. By three months, another 25 percent of the placebo group had died, but still not a single death in the broccoli group. And by six months, 43 percent of the remaining patients in the placebo group were deceased, along with the first 25 percent of the broccoli group. Unfortunately, even though the capsules for both groups looked the same, “true blinding was not possible,” and the patients knew which group they were in “because the pulverized broccoli sprouts could be easily distinguished from the methylcellulose [placebo] through their characteristic smell and taste.” So, we can’t discount the placebo effect. What’s more, the study participants weren’t properly randomized “because many of the patients refused to participate unless they were placed into the [active] treatment group.” That’s understandable, but it makes for a less rigorous result. A little broccoli can’t hurt, though, and it may help. It’s the lack of downsides of broccoli consumption that leads to “Advising Women Undergoing Treatment for Breast Cancer” to include the “liberal culinary use of cruciferous vegetables,” for example.

    It’s the same for reducing saturated fat. The title of an editorial in a journal of the National Cancer Institute asked: “Is It Time to Give Breast Cancer Patients a Prescription for a Low-Fat Diet?” “Although counseling women to consume a healthy diet after breast cancer diagnosis is certainly warranted for general health, the existing data still fall a bit short of proving this will help reduce the risk of breast cancer recurrence and mortality.” But what do we have to lose? After all, it’s still certainly warranted for general health.



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  • New gene therapy approach shows promise for Duchenne muscular dystrophy

    New gene therapy approach shows promise for Duchenne muscular dystrophy

    Indiana University School of Medicine researchers have made a significant breakthrough in developing a new gene therapy approach that restores full-length dystrophin protein, which could lead to new treatments for people with Duchenne muscular dystrophy (DMD).

    The study, recently published in Nature Communications, demonstrates the effectiveness of their novel gene therapy technology in improving muscle tissue and overall strength in mice models with Duchenne muscular dystrophy.

    Duchenne muscular dystrophy is a genetic disorder caused by mutations in the DMD gene, resulting in a lack of the protein dystrophin. This deficiency leads to progressive muscle weakness and loss of muscle tissue over time. Patients with the disease experience impaired mobility, heart and lung problems, and ultimately a shortened life expectancy.

    “Current gene therapy for Duchenne muscular dystrophy utilizes a truncated version of dystrophin,” said Renzhi Han, PhD, senior author of the study and professor of pediatrics at the IU School of Medicine. “Unfortunately, this option doesn’t fully protect the muscles because it lacks many important functional domains of full-length dystrophin.”

    While the U.S. Food and Drug Administration recently approved a micro-dystrophin gene therapy for Duchenne muscular dystrophy, Han said the therapeutic outcomes have been less satisfactory than expected.

    Building on their experience using adeno-associated virus methods to deliver extra-large therapeutic genes into cells, Han and his team at the Herman B Wells Center for Pediatric Research developed a triple-adeno-associated virus vector system to deliver a complete version of the dystrophin protein into the muscles.

    “We optimized and tested our new three-vector system to make sure it produced and assembled the full-length dystrophin protein effectively,” Han said. “Our data confirmed we successfully restored full-length dystrophin in both the skeletal and heart muscles of mice with DMD, leading to significant improvements in their muscle health, strength and function.”

    Han has filed a provisional patent application for his triple-adeno-associated virus vector system and is collaborating with the IU Innovation and Commercialization Office to advance the treatment toward market availability. He is also seeking additional funding so patients with Duchenne muscular dystrophy have access to promising new treatment options.

    “I believe this new gene therapy approach offers significant advantages to patients compared to what they currently have available, and I’m eager to get it into further clinical development,” he said.

    Other IU School of Medicine study authors include Yuan Zhou, Chen Zhang, Weidong Xiao and Roland W. Herzog.

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