Frailty is common in chronic kidney disease (CKD) and is independently associated with disability and mortality. However, evidence on the optimal treatment of frail adults with CKD remains limited. Co...

Background: Disease-modifying therapies (DMTs) are used to treat people with relapsing-onset multiple sclerosis (ROMS), but our knowledge is largely limited to ...

After earlier setbacks, FDA grants Priority Review to uniQure’s AMT-130 as a potential first disease-modifying Huntington’s treatment.

Background Multiple sclerosis (MS) is a chronic immune-mediated disease requiring long-term management. Both the disease itself and disease-modifying therapies ...

Background/Purpose: The potential association between DMARDs and mortality after GU cancer diagnosis in patients with RA remains a key clinical question. We evaluated the use of DMARDs after a new GU ...

The mucopolysaccharidoses are rare lysosomal disorders caused by defects in glycosaminoglycan (GAG) degradation, resulting in progressive multisystem disease. Biomarker measurement is central to assessing disease burden and therapeutic response, particularly as novel enzyme replacement, transplantation, gene and substrate-directed therapies are increasingly available. Liquid chromatography - tandem mass spectrometry (LC-MS/MS) has enabled specific measurement of GAG-derived biomarkers; however,...

Background/Purpose: Axial spondyloarthritis (axSpA) is a progressive inflammatory arthropathy causing structural joint damage and functional impairment. While biologic disease-modifying antirheumatic…

Obesity is increasingly managed with medications as disease-modifying therapies, reflecting its role as a gateway disease driving metabolic, cardiovascular, reproductive, neuropsychiatric, and mechani...

Diabetic peripheral neuropathy (DPN) affects up to half of people with diabetes and lacks disease-modifying therapy. Here, we profiled MSC-EV biodistribution and multiomic programs across diabetic mod...

Psychosis spectrum disorder (PSD) is among the most debilitating neuropsychiatric syndromes, disrupting cognition, motivation, belief formation, perception, and functional life trajectories. Symptoms often begin early in life, interfering with education, vocational development, and social functioning during periods of major developmental vulnerability. However, neuropsychiatry has not delivered mechanistically grounded disease-modifying therapies for this devastating illness. To reach that objective, the field needs a mapping between viable treatment targets, affected neural systems, and time-evolving clinical phenotypes. Human neuroimaging has generated a large body of evidence spanning structural magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), resting-state and task-based functional connectivity, diffusion imaging, and positron emission tomography (PET)1,2,3,4,5,6. Collectively, these modalities reveal alterations in PSD across molecular, microstructural, circuit, and systems levels3,4,7,8,9,10. However, major knowledge gaps still limit the value of imaging for mechanistic mapping of target engagement, patient selection in clinical trials, and trial endpoint optimization. Here we present a roadmap for the next phase of PSD neuroimaging, arguing that progress requires a shift from descriptive group differences toward stable brain–behavior mappings that align with regulatory endpoints, disease-modifying models, longitudinal designs, multimodal datasets, and AI-enabled discovery. This editorial is intended as an introduction to the Nature Portfolio Special Collection in Schizophrenia titled...

Psychosis spectrum disorder (PSD) is among the most debilitating neuropsychiatric syndromes, disrupting cognition, motivation, belief formation, perception, and functional life trajectories. Symptoms often begin early in life, interfering with education, vocational development, and social functioning during periods of major developmental vulnerability. However, neuropsychiatry has not delivered mechanistically grounded disease-modifying therapies for this devastating illness. To reach that objective, the field needs a mapping between viable treatment targets, affected neural systems, and time-evolving clinical phenotypes. Human neuroimaging has generated a large body of evidence spanning structural magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), resting-state and task-based functional connectivity, diffusion imaging, and positron emission tomography (PET)1,2,3,4,5,6. Collectively, these modalities reveal alterations in PSD across molecular, microstructural, circuit, and systems levels3,4,7,8,9,10. However, major knowledge gaps still limit the value of imaging for mechanistic mapping of target engagement, patient selection in clinical trials, and trial endpoint optimization. Here we present a roadmap for the next phase of PSD neuroimaging, arguing that progress requires a shift from descriptive group differences toward stable brain–behavior mappings that align with regulatory endpoints, disease-modifying models, longitudinal designs, multimodal datasets, and AI-enabled discovery. This editorial is intended as an introduction to the Nature Portfolio Special Collection in Schizophrenia titled...

A medical presenter told the Senate commission that newly available disease-modifying Alzheimer’s therapies and accurate blood-based biomarkers create a window for early intervention and recommended state investment in detection, registries and community outreach to reach underserved populations.

The first disease-modifying therapy offers clinical benefit to 41,000 symptomatic Huntington's disease patients in the United States.

Multiple sclerosis (MS) is a condition in which the immune system damages the brain and spinal cord. Treatments called disease-modifying therapies can reduce inflammation and disease activity. For some people with highly active MS, autologous haematopoietic stem cell transplan...

Following the recent approval of anti-amyloid treatments as disease-modifying therapies for Alzheimer’s disease (AD), there is an urgent need for cost-effective and widely applicable biomarkers that can identify suitable candidates for these therapies and enhance patient screening, recruitment, and monitoring in clinical trials1,2. Phosphorylated tau 217 (p-tau217) and brain-derived tau (BD-tau) have emerged as presumably central nervous system (CNS)-specific and highly accurate cerebrospinal fluid (CSF) and blood biomarkers for the detection of AD pathology, with p-tau217 showing the highest diagnostic performance across different analytical assays3,4,5. Similarly, CSF and blood BD-tau levels have been shown to track amyloid-β-associated neurodegeneration in AD and to discriminate autopsy-confirmed AD from other neurodegenerative conditions6,7. Nevertheless, recent data have challenged earlier assumptions regarding blood p-tau217 being exclusively brain-derived. Both our group and others have reported increased p-tau217 levels in the blood, but not in the CSF, of patients with amyotrophic lateral sclerosis (ALS)2,8,9. Furthermore, we identified p-tau217 species in muscle biopsy samples from both ALS patients and control subjects, with elevated serum concentrations likely reflecting protein release from denervated muscle fibres8. These findings reflect the distinct biology of tau: in the CNS, tau is predominantly expressed as low-molecular-weight (LMW) isoforms (37–46 kDa, BD-tau or small tau),...

Advances in diagnostic criteria, biomarker development, and understanding of disease biology are helping clinicians individualize use of the many disease-modifying therapies now available.

Type 1 diabetes proceeds through well-defined stages, from autoantibody positivity in early-stage disease to progressive loss of insulin secretion after diagnosis. Disease-modifying therapies aiming t...

Mitapivat, an oral pyruvate kinase activator, with a novel mechanism that ameliorates haemolytic anaemia, has the potential to be an effective and convenient disease-modifying treatment for people wit...

KHSC is expanding access to disease-modifying drugs and developing a blood test to help identify patients who may benefit from earlier care.