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Alzheimer's

Groundbreaking Therapy Offers Hope for Newborns with Rare and Fatal Metabolic Disorder MoCD Type A

Early administration of the drug Fosdenopterin/rcPMP improves the chances of survival of infants with MoCD type A and promotes the development of brain functions.

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The groundbreaking study, led by Professor Dr Günter Schwarz from the University of Cologne, has confirmed that early treatment with fosdenopterin/rcPMP significantly improves the chances of survival and developmental progress in infants with molybdenum cofactor deficiency (MoCD type A), a rare and life-threatening genetic condition. This devastating disease affects around one in 200,000 to 500,000 newborns, caused by genetic mutations that lead to the loss of the molybdenum cofactor (Moco). As a result, several enzymes in the newborn’s metabolism are affected, leading to irreversible brain damage and ultimately childhood death.

However, the study published in the Journal of Inherited Metabolic Disease reveals that early treatment with fosdenopterin/rcPMP can significantly reduce the risk of early death and promote healthy brain development. The researchers found that this therapy not only prolongs life but also enables infants to achieve important developmental milestones such as sitting, walking, and eating behavior.

The study’s results are based on three long-term studies tracking the development of 14 treated patients compared to 36 untreated patients in their first months of life. The findings demonstrate that fosdenopterin/rcPMP can significantly improve the prognosis of infants with MoCD type A, emphasizing the importance of research into rare metabolic diseases.

Fosdenopterin/rcPMP is approved for the treatment of MoCD type A in infants and young children under the brand name NULIBRY. The study was funded by Origin Biosciences, Inc., and its publication marks a significant milestone in the fight against this devastating disease.

“The results show that fosdenopterin/rcPMP can significantly improve the prognosis of infants with MoCD type A,” says Professor Dr Günter Schwarz, first author of the study. “Our results emphasize the importance of research into rare metabolic diseases, which allows us to lay the foundations for new treatment options and establish better prospects for patients.”

Alzheimer's

Groundbreaking Study Suggests Link Between Semaglutide and Lower Dementia Risk in Type 2 Diabetes Patients

A blockbuster diabetes and weight-loss drug might be doing more than controlling blood sugar—it could also be protecting the brain. Researchers at Case Western Reserve University found that people with type 2 diabetes who took semaglutide (the active ingredient in Ozempic and Wegovy) had a significantly lower risk of developing dementia. The benefit was especially strong in women and older adults.

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A recent study by researchers at the Case Western Reserve School of Medicine has made an astonishing discovery that may revolutionize the way we approach dementia prevention. The research team found that semaglutide, a popular medication used to treat diabetes and aid in weight loss, could significantly lower the risk of dementia in people with type 2 diabetes (T2D).

Dementia is a devastating condition that affects millions worldwide, causing memory loss and cognitive decline. It occurs when brain cells are damaged, disrupting their connections and ultimately leading to this debilitating state. Encouragingly, studies indicate that approximately 45% of dementia cases could be prevented by addressing modifiable risk factors.

The study, published in the Journal of Alzheimer’s Disease, analyzed three years’ worth of electronic records from nearly 1.7 million T2D patients nationally. The researchers used a statistical approach that mimicked a randomized clinical trial to determine the effectiveness of semaglutide in preventing dementia.

Their findings suggest that patients prescribed semaglutide had a significantly lower risk of developing Alzheimer’s disease-related dementia compared to those taking other anti-diabetic medications, including GLP-1R-targeting medications. These results were even more pronounced in women and older adults.

Semaglutide, a glucagon-like peptide receptor (GLP-1R) molecule that decreases hunger and regulates blood sugar levels in T2D patients, has shown remarkable benefits beyond its primary use as a diabetes treatment. It also reduces the risk of cardiovascular diseases, further solidifying its potential in preventing dementia.

The study’s lead researcher, biomedical informatics professor Rong Xu, stated, “There is no cure or effective treatment for dementia, so this new study provides real-world evidence for its potential impact on preventing or slowing dementia development among at-high risk populations.”

While the findings are promising, it’s essential to note that further research through randomized clinical trials will be necessary to confirm the causal relationship between semaglutide and dementia prevention. Nevertheless, this groundbreaking study offers a glimmer of hope in the quest to combat dementia and improve the lives of millions worldwide.

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Alzheimer's

The Common Blood Test That Could Predict Alzheimer’s Progression

A simple blood test could reveal which early Alzheimer’s patients are most at risk for rapid decline. Researchers found that people with high insulin resistance—measured by the TyG index—were four times more likely to experience faster cognitive deterioration. The study highlights a major opportunity: a common lab value already available in hospitals could help guide personalized treatment strategies. This discovery also uncovers a unique vulnerability in Alzheimer’s disease to metabolic stress, offering new possibilities for intervention while the disease is still in its early stages.

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The common blood test known as the triglyceride-glucose (TyG) index has long been used to detect insulin resistance. New research presented at the European Academy of Neurology Congress 2025 suggests that this simple test could also be used to predict how fast Alzheimer’s disease progresses in individuals with mild cognitive impairment.

A team of neurologists from the University of Brescia reviewed records for 315 non-diabetic patients with cognitive deficits, including 200 with biologically confirmed Alzheimer’s disease. All subjects underwent an assessment of insulin resistance using the TyG index and a clinical follow-up of 3 years. The results showed that when patients were divided according to their TyG index levels, those in the highest third of the Mild Cognitive Impairment subgroup deteriorated far more quickly than their lower-TyG peers.

The researchers found that high TyG was associated with blood-brain barrier disruption and cardiovascular risk factors, yet it showed no interaction with the APOE ε4 genotype. This suggests that metabolic and genetic risks may act through distinct pathways.

Identifying high-TyG patients could refine enrolment for anti-amyloid or anti-tau trials and prompt earlier lifestyle or pharmacological measures to improve insulin sensitivity.

“If targeting metabolism can delay progression, we will have a readily modifiable target that works alongside emerging disease-modifying drugs,” concluded Dr. Bianca Gumina.

The study aimed to fill the gap in understanding how quickly Alzheimer’s progresses by focusing on its impact during the prodromal mild cognitive impairment (MCI) stage.

This research has significant implications for individuals with mild cognitive impairment and their families, as it could provide a simple and cost-effective way to predict the pace of cognitive decline.

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Alzheimer's

Epilepsy Strikes with Surprising Frequency in Frontotemporal Dementia Patients

According to a recent study, in patients with frontotemporal dementia (FTD), epileptic seizures are significantly more common than previously known. The discovery deepens understanding of the symptoms of this memory disorder and emphasises the importance of taking epileptic seizures into account in the treatment and monitoring of patients.

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Epileptic seizures are more common in patients with frontotemporal dementia (FTD) than previously known, according to a recent study. This discovery sheds new light on the symptoms of this memory disorder and emphasizes the importance of considering epileptic seizures in treatment and monitoring patients.

The research project, led by Neurocenter Finland, analyzed data from 12,490 medical records at the University Hospitals of Kuopio and Oulu between 2010-2021. The study identified 245 patients with FTD and found that epilepsy was significantly more common among them than those with Alzheimer’s disease or healthy controls.

“Our results show that epilepsy is considerably more common among those with FTD than those with Alzheimer’s disease or in healthy controls,” says Doctoral Researcher Annemari Kilpeläinen, the first author of the research article and a medical specialist in neurology. “It is noteworthy that epilepsy occurred in some patients with FTD already ten years before their dementia diagnosis, and it was more common in all the examined stages of the disease than previous international studies have reported.”

The prevalence of epilepsy increased over time in patients with FTD, reaching approximately 11% five years after the diagnosis. In addition to diagnosing epilepsy, medications used for epilepsy were more common among patients with FTD, further strengthening the reliability of the results.

Diagnosing epilepsy in patients with FTD can be challenging due to the resemblance between the symptoms of the disease and epileptic seizures. However, untreated epilepsy can significantly worsen patients’ condition. Identifying epilepsy is essential because its treatment can improve patients’ functional capacity and quality of life.

“Knowledge about the association between epilepsy and FTD raises new research questions: do these diseases share some pathophysiological mechanisms and could some FTD symptoms be caused by alterations in the specific electrical systems of the brain?” asks Associate Professor Eino Solje, the principal investigator of the project.

The recently published study is part of an extensive project that combines real-life patient data with different kinds of unique registers. The project involves a strong cooperation between the University of Oulu and the University of Eastern Finland as well as different fields of science, including between researchers in medicine and law.

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