Latest Summaries

Feb 17, 2025| Drug Development, Neurology/Nervous System Diseases, Treatment

Inhaled Alprazolam Versus Oral Alprazolam for Acute Seizures

Hugues Chanteaux, PhD, Quantitative Clinical Pharmacology Lead at…
Feb 16, 2025| Advocacy, Neurology/Nervous System Diseases

Experiences of Women of Childbearing Age With Epilepsy

Gus Baker, PhD, International Bureau for Epilepsy, discusses…
Feb 15, 2025| Advocacy, Neurology/Nervous System Diseases

The Burden of Prolonged Seizures in Patients With Epilepsy

Danya Kaye, UCB Pharma, discusses a study observing…
Feb 14, 2025| Cancers, Drug Development, Hematologic Disorders, Treatment

Results from the GLOW Clinical Trial in Chronic Lymphocytic Leukemia

Carsten Utoft Niemann, MD, PhD, Copenhagen University Hospital,…
Feb 11, 2025| Cancers, Drug Development, Hematologic Disorders, Treatment

Phase 2 REVIVE Clinical Trial for Polycythemia Vera

Arturo Molina, MD, Protagonist Therapeutics, discusses results from…
Feb 5, 2025| Cancers, Hematologic Disorders, Treatment

Chemotherapy Combination Treatment in Patients with Acute Myeloid Leukemia

Emma Searle, PhD, The Christie NHS Foundation Trust…
Feb 4, 2025| Advocacy, Cancers, Hematologic Disorders, Treatment

Differences in Clinical Outcomes of Black Patients With Multiple Myeloma

Carolina Schinke, MD, University of Arkansas for Medical…
Feb 3, 2025| Drug Development, Hematologic Disorders, Treatment

Combination C5 Therapy Versus Standard of Care in Paroxysmal Nocturnal Hemoglobinuria

Christopher Patriquin, MD, University of Toronto, discusses results…
Jan 30, 2025| Cancers, Drug Development, Hematologic Disorders, Treatment

GMMG-HD7 Clinical Trial for Patients With Multiple Myeloma

Elias Mai, MD, Heidelberg Myeloma Center, discusses the…
Jan 29, 2025| Cancers, Congenital And Genetic Conditions, Diagnosis, Skin Conditions, Treatment

WHIM Syndrome: Overview, Diagnosis, and Management

Jean Donadieu, MD Service d'Hémato-Oncologie Pédiatrique, Hopital, Paris,…
Jan 28, 2025| Cancers, Drug Development, Hematologic Disorders, Treatment

Results From the PERSEUS Clinical Trial in Multiple Myeloma

Pieter Sonneveld, MD, Erasmus MC Cancer Institute, discusses…
Jan 27, 2025| Cancers, Drug Development, Hematologic Disorders, Treatment

Clinical Trial Results for Bleximenib in Patients With Acute Leukemia

Elias Jabbour, MD, MD Anderson Cancer Center, University…

Cushing’s Syndrome Treatment Research Highlights: ENDO 2024

Cushing’s syndrome is rare endocrine disorder characterized by chronic hypercortisolism. It is often due to a pituitary adenoma producing excessive ACTH leading to hypercortisolism. Symptoms can range from mild to extensive.

Cutaneous T-Cell Lymphoma

Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders.[1] Cutaneous T-cell lymphoma is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people. This form of T-cell lymphoma represents around 70% of primary cutaneous lymphomas.

FcRn and Myasthenia Gravis

This half-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, explains the role of neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG) and how treatments that target FcRn are being used to manage patients with MG.

Hematologic Malignancies and Clinical Trial Participation: A Shared Decision-Making Approach

This 30-minute, CME-accredited program, hosted by John Kuruvilla, MD, explores best practices for discussing possible clinical trial participation with patients who have hematologic malignancies.

Myasthenia Gravis Research Highlights: AAN 2024

This CME activity, hosted by Nicholas Silvestri, MD, of the University of Buffalo, provides an overview of the latest clinical research presented at AAN 2024 focused on myasthenia gravis.

Learn About WHIM Syndrome

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence, predominantly caused by pathogenic variants in the CXCR4 chemokine receptor gene.

 

Rett Syndrome

Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome.

Complement-Mediated Kidney Disorders: A Case Series

This CME-accredited program, developed by Howard Trachtman and Carla M. Nester, utilizes three unique case studies to address clinical questions which explore the complexities involved in diagnosing, treating, and managing patients with various complement-mediated kidney disorders.

Rates of Severe Neutropenia and Infection Risk in Patients Treated With Deferiprone: 28 Years of Data

Dr. Sujit Sheth, Chief of the Division of Pediatric Hematology/Oncology at Weill Cornell Medicine and an attending pediatrician at New York Presbyterian Hospital, in New York City discusses his recently published work in Blood Advances titled “Rates of severe neutropenia and infection risk in patients treated with deferiprone: 28 years of data.”

Tenosynovial Giant Cell Tumor (TGCT)

Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).[1-5]

Restless Legs Syndrome Treatment and Guidelines Update

Dr. Mark J. Buchfuhrer discusses clinical practice guidelines update suggesting against the standard use of dopamine agonists for the treatment of restless legs syndrome (RLS).

Optimizing the Efficacy and Safety of Therapy for Fabry Disease

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body’s cells, called globotriaosylceramide or GL-3. The disorder affects many parts of the body.

Overview of Epigenetics and Epigenomics in Lysosomal Disorders

Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.

Epigenetic and Epigenomics Signature in Lysosomal Disorders Pathology

Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.

Epigenetic Modifiers as Therapeutic Targets

Gaucher disease (GD) is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase, which acts on glucocerebroside.

Understanding the Global Differences in Lysosomal Disorders for Patient Care

Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.

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Carsten Utoft Niemann, MD, PhD, Copenhagen University Hospital, discusses results from the GLOW clinical trial in chronic lymphocytic leukemia (CLL).

https://checkrare.com/results-from-the-glow-clinical-trial-in-chronic-lymphocytic-leukemia/

#CheckRare #RareDisease #RareCancer

📢CME Program: Jean Elwing, MD, of the University of Cincinnati College of Medicine provides an overview of the latest clinical research about PAH presented at CHEST 2024.

https://checkrare.com/learning/p-pah-clinical-research-highlights-chest-2024/

#CheckRare #RareDisease ...#RareLung #CMEProgram

FDA Approval: The U.S. Food and Drug Administration has approved Gomekli (mirdametinib) for the treatment of adult and pediatric patients with neurofibromatosis type 1-associated plexiform neurofibromas.

https://checkrare.com/fda-approves-mirdametinib-for-treatment-of-nf1-pn/

...#CheckRare #FDAApproval #RareGenetic

💡Rare Disease Spotlight: Polycythemia Vera

Learn more about this rare disease at https://checkrare.com/?s=polycythemia+vera

#CheckRare #RareDisease #PolycythemiaVera #RareHematology

Clinical research leaders in HAE provide an overview of the discrepancies in care observed in certain patient populations, as well as a discussion on best practices to reduce those inequalities moving forward.

...https://checkrare.com/improving-health-equity-in-hereditary-angioedema-hae-a-panel-discussion/

#CheckRare #RareDisease #RareGenetic

📹 The CheckRare team spent the week at #WORLDSymposia 2025

Stay tuned for our interviews from the conference!

#CheckRare #RareDisease

Paula Ragan, President and Chief Executive Officer of X4 Pharmaceuticals, discusses the pathway of approval under the European Medicines Agency (EMA) for mavorixafor for patients with WHIM syndrome.

...https://checkrare.com/ema-pathway-to-approval-for-mavorixafor-to-treat-patients-with-whim-syndrome/

#CheckRare #RareDisease #WHIMSyndrome #RareGenetic #RareSkin

Emma Searle, PhD, The Christie NHS Foundation Trust and University of Manchester, discusses bleximenib in combination with chemotherapy to treat patients with acute myeloid leukemia (AML).

https://checkrare.com/chemotherapy-combination-treatment-in-patients-with-acute-myeloid-leukemia/
...
#CheckRare #RareDisease #AML #RareCancer

February 4th is #WorldCancerDay

Although there are over 200 types of rare cancers, only a small number of people are diagnosed with each type. These conditions often present unique challenges in diagnosis, research, and treatment. Today we raise awareness, support research, and advocate ...for better resources.🎗️

To learn more about rare cancers, visit https://checkrare.com/diseases/cancers/

#CheckRare #RareDisease #RareCancer

Caplacizumab Combination Therapy in Patients With Acquired Thrombotic Thrombocytopenic Purpura