Huntington disease (HD) has finally found its first successful treatment. Biotech company uniQure has announced positive top-line results from its Phase I/II trial of AMT-130.

It is a one-time gene therapy for HD. According to the update, the therapy significantly slowed symptom progression and met its primary endpoint, making it the first drug ever to alter the course of HD in a human clinical trial.

Topline data refers to an early summary of key results from a study. In this case, the findings suggest that AMT-130 may meaningfully delay disease decline across movement, thinking, and daily functioning.

What Is Huntington’s Disease?

Huntington’s disease is a rare, inherited neurodegenerative disorder caused by a faulty copy of the huntingtin gene. This gene contains an abnormal expansion of the DNA sequence CAG, which leads to production of a toxic form of the huntingtin protein. Over time, this protein damages brain cells, causing movement problems, cognitive decline, and loss of independence.

Currently, there are no approved treatments that can slow or stop the progression of HD—existing drugs only manage symptoms. This makes the results from AMT-130 especially significant.

How Does AMT-130 Work For HD?

Unlike pills or injections that require repeated dosing, AMT-130 is a one-time gene therapy delivered directly into the brain through surgery.

The therapy uses a harmless virus (AAV5) as a delivery vehicle. This “Trojan Horse” carries genetic instructions that bind to the messages cells normally use to make the huntingtin protein. By marking these instructions for destruction, AMT-130 reduces the overall levels of huntingtin protein—including the harmful version linked to HD.

Read: Huntington’s Disease Gets First Successful Treatment: Here’s What To Know About The Condition And Early Symptoms

uniQure believes this could provide a long-lasting or potentially lifelong effect, distinguishing it from other huntingtin-lowering drugs in development.

Are There Any Challenges With HD Treatment?

Gene therapies carry risks, especially when delivered via brain surgery. Initial stages of the trial were cautious, with small participant groups and strict safety monitoring. Some patients experienced serious side effects early on, prompting temporary pauses and safety reviews.

Despite these hurdles, trial participants, the first humans ever to receive AMT-130—took a historic step forward. Their involvement paved the way for further testing, and by mid-2024, interim updates began showing encouraging trends. Biomarkers of brain health improved, disease progression appeared slower, and no major new safety concerns were reported.

What Impact Has It Made?

The topline results released this week provide the clearest picture yet of AMT-130’s potential. Researchers compared participants’ outcomes to data from Enroll-HD, a large database tracking the natural progression of the disease. The findings suggest substantial slowing of decline in patients receiving the high dose of AMT-130.

Composite Unified Huntington’s Disease Rating Scale (cUHDRS)

This combined score tracks movement, thinking, independence, and daily function. Patients on high-dose AMT-130 showed a 75% slowing of decline compared to controls. In practical terms, a decline expected in one year could now take four years.

Total Functional Capacity (TFC)

TFC assesses real-world abilities such as managing finances, working, and living independently. AMT-130 slowed decline in TFC by about 60%, reinforcing the cUHDRS findings.

Cognitive Function

In the Symbol Digit Modality Test (SDMT), which measures mental processing speed, AMT-130 slowed decline by 88%, though the result narrowly missed statistical significance. Another test, the Stroop Word Reading Test (SWRT), showed an impressive 113% slowing, suggesting potential benefits for attention and language.

Motor Function

Using the Total Motor Score (TMS), which evaluates involuntary movements and coordination, AMT-130 showed a 59% slowing in symptom worsening. While this result was not statistically significant, it suggests possible benefit across motor symptoms.

Brain Health Biomarker (NfL)

Neurofilament light (NfL), a protein released when brain cells are damaged, typically rises in HD patients. At 36 months post-treatment, high-dose AMT-130 patients had an 8% drop in NfL levels—suggesting reduced ongoing brain cell injury.

Safety Profile

Overall, AMT-130 was well tolerated. No new serious drug-related side effects have been reported since late 2022. Most issues were linked to the surgical procedure itself and have since resolved.

The difference in outcomes between high-dose and low-dose groups underscores the importance of dosing strength, with the high-dose cohort showing the most consistent benefit.

What Happens Next?

Following these results, uniQure plans to meet with the U.S. Food and Drug Administration (FDA) later this year. The company aims to file for a Biologics License Application (BLA) in early 2026. If successful, AMT-130 could be launched in the U.S. later that year.

Discussions are also planned with European regulators, including the European Medicines Agency (EMA). Meanwhile, ongoing studies will continue to treat more participants, including those at different stages of HD who were previously ineligible.

If you think smoking is the only threat to your lungs, think again. Rising air pollution, occupational hazards, lifestyle choices, and, of course, smoking all put a significant strain on respiratory health. These factors can lead to shortness of breath, chronic lung conditions, and other breathing difficulties. The good news is that many lung problems can be prevented through awareness, timely intervention, and adopting a healthier lifestyle.

On the occasion of World Lung Day, we explore what makes lungs healthy, ways to maintain them, and the tests you can take to check their strength. For insights, we spoke to Dr. Sudhir Kr. Gupta, Senior Consultant (Chest Physician & Bronchoscopist) at Kailash Hospital, Noida.

How To Know Your Lungs Are Healthy?

ALSO READ: World Lung Day: Why Lung Cancer Remains The Top Risk For Death In Women, Even Those Who Do Not Smoke

Dr. Sudhir shared, “Compared to last year, we’ve seen a slight rise in lung patients. The monsoon season has brought an increase in viral infections, and influenza cases are higher than usual. Consequently, respiratory issues have grown, especially among people who had Covid previously or already have lung damage. Thus, Dr Sudhir suggests people to always take precaution by doing regular lung health tests.

Blood Tests For Lung Health

• Arterial Blood Gas (ABG) Analysis: Measures blood pH, oxygen, and carbon dioxide levels to show how efficiently your lungs are exchanging gases.
• Complete Blood Count (CBC): Evaluates different blood cells.
• White Blood Cells: High counts may indicate bacterial or viral lung infections, while elevated eosinophils can suggest allergies.
• Red Blood Cells: Increased red blood cells can signal polycythemia, often a response to chronic low oxygen levels seen in conditions like COPD.
• Comprehensive Metabolic Panel (CMP): Checks for chemical imbalances, organ function, and overall metabolic health.
• Alpha-1 Antitrypsin (AAT) Deficiency Test: Detects a genetic condition that can cause certain lung diseases.
• Tuberculosis (TB) Tests: Mantoux or IGRA tests screen for latent or active TB infection.

When Are These Lung Tests Needed?

• To determine the cause of respiratory symptoms like persistent cough or shortness of breath.
• To diagnose and monitor chronic lung conditions such as COPD.
• To evaluate lung efficiency and overall function.
• To detect infections, inflammation, or other underlying problems.

Precautions To Protect Your Lung HealthLung problems can sometimes appear before noticeable symptoms arise. Regular checkups can catch early issues before they become severe. As pollution tends to rise from October onward for several months, there’s often an increase in asthma and COPD cases. Seasonal weather also makes viral infections spread more easily. The combination of pollution and viruses can worsen respiratory health, and Dr. Sudhir predicts that patient numbers may rise further this year, along with complications.

Recommended precautions include:

• Wearing a mask in crowded or polluted areas.
• Using an air purifier indoors to reduce pollutants.
• Staying inside during peak pollution hours, particularly mornings and evenings.
• Keeping windows closed on high AQI days.
• Practicing good hand hygiene and avoiding close contact with anyone showing infection symptoms.

In an exclusive interview with Health and Me Dr Balbir Singh, Chairman of Cardiology at Max Hospitals revealed 3 tests people should get before their 30s that can protect them from heart diseases.

Dr Singh highlighted that nowadays cases of young people with high cholesterol and diabetes have gone up. "This is not just genetics, but also because of their lifestyle," he points out. He also says that high levels of cholesterol or diabetes can put your heart at risk. However, "many of these diseases can be taken care at an early age by routine testing," he notes.

3 Tests People Under 30s Must Get Done

Diabetes Screening

"This is where look at your fasting pp and HBA1C," says Dr Singh.

A diabetes screening test is a blood test used to check for high or low blood glucose levels, which can indicate diabetes or prediabetes. Common tests include a fasting pp, which refers to glucose fasting and postprandial test, a diagnostic test that measures blood glucose levels after an overnight fast and again two hours after a meal to assess the body's glucose metabolism.

HBA1C or the glycated hemoglobin is a blood test that measures your average blood sugar levels over the past two to three months.

As per a 2017 study published in the journal Cardiovascular Endocrinology & Metabolism, importance of diabetes screening is stressed upon for heart diseases. Research also shows that diabetes screening helps reduce heart attack and complications by three to nine cases for every 1,000 patients screened. This is because unchecked diabetes can lead to heart diseases, in fact, it is responsible for 52% of diabetes-related deaths in India for patients with heart diseases.

Lipid Profile

"It tells about your cholesterol levels, HDL and LDL," says Dr Balbir.

A lipid profile or a lipid panel is a blood test that measures the amount of fats (lipids) in your blood, including cholesterol (total, LDL, HDL) and triglycerides. The test helps assess your risk for cardiovascular diseases, especially stroke by identifying, what people usually call the "bad" fats or LDL, that can clog arteries.

Extended Lipid Profile

"If you get an extended lipid profile, we can also see the lipoprotein, from which one can see if you are genetically predisposed to heart diseases," explains Dr Singh.

An extended lipid profile test is a comprehensive blood test that provides a more detailed assessment of cardiovascular risk by measuring various fats and proteins in your blood, going beyond a standard lipid panel.

While a basic test checks total cholesterol, LDL, HDL, and triglycerides, an extended profile has measures like Apolipoprotein B (Apo B), Apolipoprotein A1 (Apo A1), Lipoprotein(a) (Lp(a)), and sometimes high-sensitivity C-reactive protein (hs-CRP) or homocysteine. These additional components offer a deeper understanding of your lipid metabolism and risk for heart diseases and stroke. These measuring factors are largely determined by genetics, and thus can become a predisposition to any heart health risks.

"Based on this test, predictive model can be set at any age and doctors can predict what kind of risks this person is going to have in years to come," he points out.

Heart diseases are one of the leading causes of death all over the world. The World Health Organization noted an estimated 17.9 million lives are lost every year to cardiovascular diseases. Four out of five of these deaths are due to heart attacks and strokes.

Too often heart attacks come ‘out of nowhere’. People explain how their cardiac events caught them by surprise because things like cholesterol silently affect their arteries, and they do not realize how quickly their heart health deteriorates. However, it doesn’t have to be a surprise, there are tests that can reveal your risk of cardiac events. In a recent video, cardiologist Dmitry Yaranov, MD shared a video explaining how there is a test that can help you predict an heart attack, and no, it is not the cholesterol test.

“CRP — C-reactive protein — is a marker of inflammation, and high levels are linked to up to 3x higher risk of heart attack. And here’s the twist: your cholesterol could be “normal”… and CRP still dangerously high.” he explained in the video caption.

What is C-reactive protein Test?

The MedlinePlus explained that this test is for C-reactive protein (CRP), a protein made by your liver in response to inflammation. While traditional CRP tests are used to detect significant inflammation from things like infections or injuries, doctors use a more sensitive version, high-sensitivity CRP (hs-CRP), to pick up on the subtle, chronic inflammation linked to heart disease.

Inflammation is your body's natural defense system. It's the way your body protects and heals itself from injuries, infections, or diseases. When you get a cut, the area becomes red and swollen—this is acute, or short-term, inflammation at work, fighting off infection. This process also happens inside your body to combat germs or harmful substances.

However, if inflammation lasts too long, it can start damaging healthy tissues. This is known as chronic, or long-term, inflammation. It can be caused by autoimmune disorders, repeated injuries, or exposure to environmental factors like smoking or pollution.

When Is The Right Time To Get CRP Test

Your doctor may order a CRP test to check for inflammation in your body. High levels of CRP can indicate various health issues, including:

Infections: Both bacterial and viral infections can raise your CRP levels.

Inflammatory bowel diseases: Conditions like Crohn's disease and ulcerative colitis

Autoimmune disorders: Diseases such as lupus and rheumatoid arthritis.

Lung diseases: Conditions like asthma.

You might need this test if you have symptoms of an infection, such as a fever, rapid heart rate, or nausea. It is also used to monitor chronic conditions, check for infection after surgery, or guide treatment for serious conditions like sepsis. As your inflammation goes down, your CRP levels will decrease, showing that your treatment is working.

How Is The Test Conducted?

A healthcare professional will take a small blood sample from a vein in your arm. The process is quick, usually taking less than five minutes, and you may only feel a slight sting.

Before the test, be sure to tell your doctor about any medications or supplements you are taking, as some can affect the results. Do not stop taking any prescribed medication unless your doctor tells you to. The test itself has very few risks; you may experience some minor pain or bruising at the site where the needle was inserted.

What Do High Levels Of CPR-Test Signify?

In a healthy person, CRP levels are generally very low—usually 0.8-1.0 milligrams per deciliter (mg/dL) or less. An increase above this range indicates inflammation in your body. However, elevated CRP levels can also be influenced by other factors such as:

• Insomnia
• Depression
• Obesity
• Hormone replacement therapy
• Biological sex: Females often have slightly higher CRP levels than males.

A CRP test shows that you have inflammation, but it does not tell you what is causing it or where it is located. Your doctor will consider your CRP results along with other lab tests, symptoms, and medical history to make a diagnosis.

You may hear about a similar test called a high-sensitivity CRP (hs-CRP) test. While both tests measure CRP, they are used for different purposes. The hs-CRP test is much more precise and can detect very small increases in CRP levels. It is primarily used to help doctors estimate a person's risk for heart disease.