Neurology and Nervous System Diseases

Rare neurological disorders are diseases of the brain, spine, and autonomic nervous system. This section provides overviews of several of those conditions, as well news, clinical trial updates, and expert opinions form leading neurologists.
Jan 13, 2025| Posted in: Drug Development, Lysosomal Storage Disorders, Neurology/Nervous System Diseases

Autophagy–Lysosomal Systems in Parkinson’s Disease

Juozas Gordevicius, PhD, Chief Technology Officer of VUGENE…

Recent Videos

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).

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.

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.

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.

Neurology/Nervous System Diseases

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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

Jean Donadieu, MD, Service d’Hémato-Oncologie Pédiatrique, Hopital, Paris, provides an overview of WHIM syndrome.

https://checkrare.com/whim-syndrome-overview-diagnosis-and-magement/

#CheckRare #RareDisease #RareGenetic #RareSkin #WHIM

Join Professors João Gonçalves and Paolo Calicaeti in this educational webinar discussing how PEGylation represents a major technological advancement in the development and optimization of therapeutic proteins.

...https://checkrare.com/optimizing-therapeutic-proteins-through-pegylation/

#CheckRare #RareDisease #lysosomal #RareLysosomal

Marina Kremyanskaya, MD, PhD, Icahn School of Medicine at Mount Sinai, discusses the development of gene silencer divesiran for treatment of polycythemia vera (PV).

https://checkrare.com/development-of-gene-silencer-for-treatment-of-polycythemia-vera/

📣 Stay up to date on the most recent FDA approvals and PDUFA dates in the rare disease space with our 2025 Orphan Drugs webpage!

https://checkrare.com/2025-orphan-drugs-pdufa-dates-and-fda-approvals/

#CheckRare #RareDiseases #PDUFADates #FDAApproval

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

#CheckRare #CME

This CME 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.

#CheckRare #CME #MyastheniaGravis

This CME program, developed by Howard Trachtman, MD, and Carla M. Nester, MD, addresses the complexities involved in diagnosing, treating, and managing patients with various complement-mediated kidney disorders, such as C3 glomerulopathy and atypical hemolytic uremic syndrome (aHUS).

...#CheckRare #CME #RareDisease #KidneyDisorders