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.
Jun 18, 2025| Posted in: Congenital And Genetic Conditions, Regulations, Skin Conditions, Treatment

FDA Approves Garadacimab for Hereditary Angioedema

The U.S. Food and Drug Administration (FDA) has…
Jun 13, 2025| Posted in: Cancers, Lung Diseases, Regulations, Treatment

FDA Approves Taletrectinib for Rare Form of Lung Cancer

The U.S. Food and Drug Administration (FDA) has…
May 30, 2025| Posted in: Endocrine Disorders, Regulations, Treatment

FDA Approves New Formulation of Treatment for Adrenal Insufficiency

The U.S. Food and Drug Administration (FDA) has…
May 27, 2025| Posted in: Congenital And Genetic Conditions, Hematologic Disorders, Regulations, Treatment

Phase 3 Studies Lead to Approval of Fitusiran for Hemophilia A and B

Sanjay Ahuja, MD, Pediatric Hematologist, Chief Medical and…

Recent Videos

Progressive Familial Intrahepatic Cholestasis (PFIC): Diagnosing, Treating, Monitoring

This educational program, hosted by Patrick McKiernan and Nadia Ovchinsky, discusses the recently published guidance on best practices to diagnose, treat, and monitor patients with progressive familial intrahepatic cholestasis.

PAH Clinical Research Highlights: CHEST 2024

Dr Jean Elwing discusses Pulmonary Arterial Hypertensions (PAH), a rare disorder characterized by high blood pressure in the pulmonary arteries. Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes.

Transforming Clinical Outcomes with Early Treatment of Lysosomal Disorders

This CME program examines the evidence available to address how to monitor, and possibly treat, children with lysosomal diseases that were diagnosed by newborn screening or soon after birth.

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.

Optimizing Therapeutic Proteins Through PEGylation: Key Parameters and Impacts

The session will delve into the process of PEGylation, where polyethylene glycol (PEG) is conjugated to functional amino acid groups on the protein surface. This modification may enhance the properties of therapeutic proteins, offering advantages in stability, half-life, and immunogenicity.

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.

Fabry Disease Research Highlights

Fabry disease, an inherited lysosomal storage disease caused by mutations in the GLA gene.

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.

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Social Wall

Robert Mitchell-Thain, chair of the PBC Foundation, discusses how linerixibat reduces itching in patients with primary biliary cholangitis (PBC).

https://checkrare.com/linerixibat-reduces-itching-in-patients-with-pbc/

#CheckRare #RareDisease #RareGastrointestinal #RareAutoimmune

Has your patient been diagnosed with immunoglobulin A nephropathy (IgAN), or Berger’s disease? They may be eligible to take part in a new clinical research study evaluating an investigational treatment option that may help manage and slow disease progression. See if they may be eligible to help ...advance research for the IgAN community. Click here to see if they may qualify.

https://icanclinicalstudy.alexionclinicaltrials.com/?utm_source=CheckRare&utm_medium=Social&utm_content=Awareness&utm_campaign=ICAN

Leticia Orsatti, MD, discusses results from clinical trials examining the safety and efficacy of nerandomilast to treat patients with idiopathic pulmonary fibrosis (IPF) or progressive pulmonary fibrosis (PPF).

...https://checkrare.com/evaluating-nerandomilast-in-patients-with-rare-pulmonary-fibrotic-conditions/

#CheckRare #RareLung #RareDisease

The FDA has recently approved:

- Taletrectinib for the treatment of adults with locally advanced or metastatic ROS1-positive NSCLC

- Garadacimab for the treatment of HAE in patients ages 12 years and older

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

#CheckRare #RareDisease

The FDA has recently approved the following.

Stay up to date with upcoming PDUFA dates at https://checkrare.com/2025-orphan-drugs-pdufa-dates-and-fda-approvals/

#CheckRare #RareDisease #FDAApprovals

The FDA Priority Review Voucher (PRV) program aims to incentivize the development of drugs for rare pediatric and tropical diseases. PRVs act as a way to skip to the front of the FDA’s line to have a future drug reviewed.

Click here to visit CheckRare’s chart tracking issued PRVs and ...their current status https://checkrare.com/priority-review-voucher/

#CheckRare #RareDisease #PriorityReview

Matt Winton, PhD, Senior Vice President and Chief Operating Officer of Inozyme Pharma, discusses results from an analysis characterizing disease severity and progression in patients with ENPP1 deficiency.

...https://checkrare.com/disease-severity-and-progression-in-patients-with-enpp1-deficiency/

#CheckRare #ENPP1 #RareMetabolic #RareGenetic

Implications of Nipocalimab Approval on Pediatric Patients With Myasthenia Gravis

New Data From EMBARK Study in Patients With Duchenne Muscular Dystrophy Receiving Gene Therapy

NEW: Check out our Rare Disease Recognition and Awareness Days page to stay up to date on the latest rare disease awareness programs.

https://checkrare.com/rare-disease-awareness-days-and-recognition-page/

#CheckRare #RareDisease #RareDiseaseAwareness

Erin Sullivan, Executive Director of Sisters’ Hope Foundation, discusses her family’s experience with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

https://checkrare.com/a-familys-experience-with-alsp/

#CheckRare #ALSP #RareNeurology ...#RareGenetic

Genetic Testing for WHIM Syndrome: reducing barriers, proper panel analysis, and how to deal with variants of uncertain significance.

Learn more at https://checkrare.com/genetic-testing-for-whim-syndrome/

#CheckRare #WHIMSyndrome #RareGenetic #RareAutoimmune #RareSkin

💡Rare Disease Spotlight: SYNGAP1-Related Disorders

Learn more about this rare disease with our latest article https://checkrare.com/the-current-landscape-of-syngap1-related-disorders/

#CheckRare #RareDisease #SYNGAP1 #RareNeurology #RareGenetic