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About 1,855 results

ALLMedicine™ Gaucher Disease Center

Research & Reviews  656 results

Genetic Studies of Lysosomal Storage Disorders
https://clinicaltrials.gov/ct2/show/NCT00001215

May 20th, 2022 - There is a vast spectrum of clinical manifestations encountered in individuals with lysosomal storage diseases. Lysosomal storage disorders occur when an enzyme necessary for breaking down intracellular fats, proteins, recycled products and organe...

Update of treatment for Gaucher disease.
https://doi.org/10.1016/j.ejphar.2022.175023
European Journal of Pharmacology; Kong W, Lu C et. al.

May 16th, 2022 - Gaucher disease (GD), the most common lysosomal disorders, is a rare autosomal recessive hereditary disease that is caused by deficiency of glucosylceramidase. For now, there are five approved therapies for GD, which are used to treat thousands of...

Gaucher disease carrier with gestational thrombocytopenia and anemia: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9102285
Journal of Medical Case Reports; Sugiura T, Fujiwara A et. al.

May 14th, 2022 - Gaucher disease is an autosomal recessive inborn error of metabolism that causes disorders of blood, bone, and central nervous system as well as hepatosplenomegaly. We present the case of a carrier of Gaucher disease with gestational thrombocytope...

Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension
https://clinicaltrials.gov/ct2/show/NCT02843035

May 12th, 2022 - The total duration for GD1 participants is 45 days (Part 1), while for GD3 participants the total duration is up to approximately 8.7 years

Enzyme replacement therapy leading to improvement in myeloma indices in a patient with ...
https://doi.org/10.1111/imj.15781
Internal Medicine Journal; Harel R, Gavish I et. al.

May 11th, 2022 - Patients with Gaucher disease (GD) have been shown previously to carry an increased risk for cancer, most commonly multiple myeloma (MM). It is currently unknown whether treatment for GD has an effect on the prevention or amelioration of MM. We pr...

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Guidelines  1 results

Management of neuronopathic Gaucher disease: revised recommendations.
https://doi.org/10.1007/s10545-009-1164-2
Journal of Inherited Metabolic Disease; Vellodi A, Tylki-Szymanska A et. al.

Aug 6th, 2009 - The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role of high-dose enzyme replacement therapy (120 IU/kg of body weight every 2 weeks) in stab...

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Drugs  11 results see all →

Clinicaltrials.gov  31 results

Genetic Studies of Lysosomal Storage Disorders
https://clinicaltrials.gov/ct2/show/NCT00001215

May 20th, 2022 - There is a vast spectrum of clinical manifestations encountered in individuals with lysosomal storage diseases. Lysosomal storage disorders occur when an enzyme necessary for breaking down intracellular fats, proteins, recycled products and organe...

Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension
https://clinicaltrials.gov/ct2/show/NCT02843035

May 12th, 2022 - The total duration for GD1 participants is 45 days (Part 1), while for GD3 participants the total duration is up to approximately 8.7 years

GSL Synthetase Inhibitor or in Combination With Immune Checkpoint Inhibitor in Previously Treated Blood and Solid Tumor
https://clinicaltrials.gov/ct2/show/NCT04944888

May 4th, 2022 - Immune checkpoint blockade has led to great strides in the management of various cancers, however, durable response could be seen in approximately 20% of treated patients with most solid tumors and hematological malignancies. One important reason ...

Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease
https://clinicaltrials.gov/ct2/show/NCT04145037

Dec 29th, 2021 - Five study periods (Screening, Baseline, Pre-transplant, Transplant, and Post-transplant Follow-up) comprise the study. During the Screening Period (approximately 60 days), written informed consent will be obtained and the subject will complete ot...

Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
https://clinicaltrials.gov/ct2/show/NCT04470713

Nov 8th, 2021 - This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2). Information is planned to be gathered on at least 180 patients with GM1 gangliosidosis, GM2 gangliosi...

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News  35 results

Positive Topline Results for Novel Parkinson's Treatment
https://www.medscape.com/viewarticle/958356

Sep 8th, 2021 - Topline results from a study that tested two lead structurally targeted allosteric regulator (STAR) compounds ― GT-02287 and GT-02329 ― are promising for the treatment of Gaucher disease (GD) and GBA1-associated Parkinson's disease (PD). "The topl...

Lysosomal Storage Disorders: Marking Milestones and Moving Forward
https://www.onclive.com/view/lysosomal-storage-disorders-marking-milestones-and-moving-forward

Dec 20th, 2020 - Richard Moscicki, MD The 12th International Congress of Human Genetics attracted approximately 7500 people this year, including scientists, clinicians, and industry representatives, a turnout that organizers said constituted the largest-ever gat...

Same Mission, New Role for Genzyme Executive: Head of Rare Diseases Committed to Patients
https://www.onclive.com/view/same-mission-new-role-for-genzyme-executive-head-of-rare-diseases-committed-to-patients

Dec 20th, 2020 - Rogério Vivaldi, MD Rogério Vivaldi, MD, has vivid memories of the first patient with Gaucher disease ever treated in Brazil with enzyme replacement therapy (ERT ). The patient was a shy 14-year-old boy struggling to play soccer, even though he ...

Dr. Rosenbloom on Gaucher Disease Diagnosis Challenges
https://www.onclive.com/view/dr-rosenbloom-on-gaucher-disease-diagnosis-challenges

Dec 4th, 2020 - Barry Rosenbloom, MD, director of the Comprehensive Gaucher Treatment Center at Tower Hematology Oncology in Beverly Hills, California, discusses the challenges of diagnosing Gaucher disease. The diagnosis of Gaucher disease can be difficult beca...

Dr. Mistry Explains the History of Gaucher Disease
https://www.onclive.com/view/dr-mistry-explains-the-history-of-gaucher-disease

Nov 13th, 2020 - Pramod K. Mistry, MD, PhD, Professor of Pediatrics and Internal Medicine, chief, Department of Pediatric GI/Hepatology, Yale University School of Medicine, describes the history of Gaucher disease beginning 20 years ago when a therapy did not exis...

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Patient Education  8 results see all →