Gaucher diseaseNews & Research
16 curated articles for Gaucher disease — FDA updates, peer-reviewed research, clinical-trial milestones, and sponsor press releases. Sorted newest-first.
- Journal of chromatography. B, Analytical technologies in the biomedical and life sciences Apr 27, 2026
Development and validation of a high-throughput LC-MS/MS method for simultaneous quantification of Lyso-GL1 and Lyso-GL3 in dried blood spots for rare disease screening.
To develop and validate a high-throughput liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for simultaneous quantification of glucosylsphingosine (Lyso-GL1) and Lyso-GL3 (Lyso-GL3) in dried blood spots (DBS). Target analytes were extracted from DBS using methanol-water solution with ...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Medical sciences (Basel, Switzerland) Apr 24, 2026
Longitudinal Evaluation of Neurological and Sensory Changes in Gaucher Disease: A Prospective Observational Cohort Study (SENOPRO).
Background: Gaucher disease (GD) is a rare lysosomal storage disorder caused by mutations in the GBA1 gene. Traditionally, GD is classified into three subtypes based on the severity of neurological involvement; however, overlapping clinical features increasingly suggest a continuum of phenotypes rat...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Analytical biochemistry Apr 11, 2026
A bioinformatics-guided analytical approach for drug repositioning: Colchicine as a candidate for gaucher disease treatment.
Gaucher disease is a rare lysosomal storage disorder characterized by lipid accumulation. Emerging evidence suggests that patients with gaucher disease are at an increased risk of developing melanoma, yet the shared molecular mechanisms remain unclear. This study aimed to investigate and validate po...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Biochemical and biophysical research communications Apr 3, 2026
Development and optimization of human glucocerebrosidase-encoding mRNA for Gaucher disease therapy.
Gaucher disease (GD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the GBA1 gene encoding the lysosomal hydrolase glucocerebrosidase (GCase). Mutations in GCase lead to glucosylceramide accumulation within macrophages. Current treatments, including enzyme replacemen...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Orphanet journal of rare diseases Apr 3, 2026
Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.
Gaucher disease is a rare lysosomal storage disorder caused by insufficient activity of the enzyme β-glucocerebrosidase. This leads to the accumulation of fatty deposits in cells and tissues and damages multiple organ systems. Diagnosing Gaucher disease often involves a prolonged and challengi...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Life (Basel, Switzerland) Mar 28, 2026
Safety and Efficacy of Ambroxol Therapy in Polish Patients with Gaucher Disease.
Gaucher disease (GD) is a lysosomal storage disorder caused by deficiency of β-glucocerebrosidase, leading to accumulation of glucocerebroside in lysosomes. Type 1 GD is most commonly associated with the N370S mutation and lacks neurological involvement, whereas the neuronopathic forms (types ...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Journal of clinical medicine Mar 28, 2026
Real-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China.
Background/Objectives: Eliglustat is an oral therapy for Gaucher disease type 1 (GD1) that may reduce infusion-related logistical burden, particularly in resource-constrained settings. Post-approval evidence from routine clinical practice in China remains limited. This study evaluated its real-world...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Molecular genetics and metabolism Mar 11, 2026
Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.
Saposin C (Sap C) deficiency (GDSAPC, OMIM #610539, ORPHA:309252) is an ultra-rare autosomal recessive disorder caused by mutations in the PSAP gene. Sap C functions as an essential activating cofactor of glucosylceramidase (GCase) and facilitates the degradation of glucosylceramide in the lysosome....
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- International journal of molecular sciences Mar 7, 2026
Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.
Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the glucocerebrosidase gene ( GBA1 ), leading to acid β-glucosidase deficiency and the accumulation of glucosylceramide-derived glycosphingolipids. Its three phenotypes (non-neuronopathic, acute neuronopathic, and chro...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Molecular therapy : the journal of the American Society of Gene Therapy Mar 7, 2026
AAV gene therapy for GBA1-related diseases.
Mutations in GBA1, the gene encoding glucocerebrosidase (GCase), are the most common risk factor for Parkinson's disease (PD). GBA-PD patients are a genetic subpopulation of PD carrying heterozygous mutations in GBA1. Additionally, bi-allelic mutations in GBA1 cause Gaucher disease (GD), a lysosomal...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Neurobiology of disease Feb 1, 2026
Association between plasma glucosylsphingosine levels and dyskinesia burden in GBA1-related Parkinson's disease.
GBA1 mutation is the most significant genetic risk factor for Parkinson's disease (PD). It encodes glucocerebrosidase (GCase), whose dysfunction - seen in Gaucher disease - leads to the accumulation of glucosylceramide and its derivate glucosylsphingosine (GlcSph). However, it remains unclear whethe...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Radiologie (Heidelberg, Germany) Jan 28, 2026
[Bone infarctions-from pathophysiology to imaging].
Bone infarctions are a relatively understudied subgroup of osteonecroses in the literature. As frequently incidental, yet distinct imaging findings, they must be interpreted in the context of predisposed patient groups, relevant risk factors, differential diagnoses, and potential complications....
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- European journal of medicinal chemistry Jan 23, 2026
Neutral sp 2 -iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.
A major challenge in developing selective active site-directed pharmacological chaperones for lysosomal storage disorders is discriminating among glycosidases acting on anomeric substrates. Here, we report the design and synthesis of neutral thiourea-type sp 2 -iminosugars derived from 1-deoxynojiri...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- Clinical pediatrics Jan 17, 2026
Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study.
Lysosomal dysfunction in Gaucher disease (GD) leads to inflammation, impaired cellular homeostasis, and disrupted autophagy. The alteration in immune system and the pro-inflammatory state in GD involves in the pathogenesis of the disease with increased levels of cytokines and chemokines. In this stu...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
- BreakingFDA Jan 10, 2026
First Biosimilar for Gaucher Disease Enzyme Therapy Approved
The first biosimilar to imiglucerase for Gaucher disease received FDA approval.
Why it matters: Biosimilar competition may improve access to treatments costing $300K+ annually.
- Pediatric nephrology (Berlin, Germany) Dec 23, 2025
Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome.
Gaucher disease (GD), the most common lysosomal storage disorder worldwide, should be considered in children presenting with unexplained hepatosplenomegaly and cytopenia. Kidney involvement is rare, and nephrotic syndrome constitutes an uncommon complication. We describe a 15-month-old female, the f...
Why it matters: Recent peer-reviewed research on Gaucher disease that may be relevant for patients and caregivers.
More on Gaucher disease
Articles aggregated from peer-reviewed journals (PubMed), sponsor press releases, SEC 8-K filings, and FDA announcements. Original-source links are preserved on each article page. Editorial tags (Breaking / Notable / Update) reflect UniteRare's curation-time priority assessment.