Regulations

Rare disease regulations play a critical role in ensuring patients have access to safe and effective treatments. From orphan drug policies to expedited approval pathways, understanding these frameworks can empower stakeholders to advocate for change. Here, we break down the complexities of regulations, their impact on patients, and the opportunities they create for advancing rare disease care.
Dec 23, 2024| Posted in: Cancers, Drug Development, Endocrine Disorders, Regulations, Treatment

NDA Submission of Paltusotine for Acromegaly

Alan Krasner, MD, Chief Medical Officer of Crinetics…

Recent Videos

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.

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.

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.”

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).

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.

 

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.

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.

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]

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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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