Rare Disease

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While the findings suggest that switching to onasemnogene abeparvovec after non–gene therapy treatments could be beneficial to patients with spinal muscular atrophy, it is not clear which patients may benefit the most from switching therapies. | Image credit: Rochu_2008 - stock.adobe.com
Switching to Gene Therapy After Nusinersen or Risdiplam May Benefit Patients With SMA

August 15th 2025

Children with spinal muscular atrophy (SMA) showed motor function improvements after switching to onasemnogene abeparvovec following prior treatment with nusinersen or risdiplam in a real-world study.

Dordaviprone is indicated for recurrent H3 K27M-mutant diffuse midline glioma, an ultra-rare, aggressive brain tumor primarily affecting children. | Image credit: wladimir1804 - stock.adobe.com
FDA Approves Dordaviprone as First and Only Treatment for Aggressive Form of Glioma

August 6th 2025

Women in science | Image Credit: © metamorworks-stock.adobe.com.jpeg
5 Rare Disorders Named for Pioneering Female Scientists

May 23rd 2025

RAre disease ribbon-Chinnapong-stock.adobe.com
5 Rare Diseases That Now Have Their First FDA-Approved Treatments

February 28th 2025

FDA approved. | Image Credit: Pawel - stock.adobe.com
FDA Approves Mirdametinib for Neurofibromatosis Type 1 With Plexiform Neurofibromas

February 12th 2025

More News

collage of health-related items
April 2nd 2021

Research Highlights Mast Cell Involvement in cGVHD

Jaime Rosenberg
According to a recent review, data suggest mast cells have an important role in tissue homeostasis and wound healing, with mass cell dysregulation potentially leading to fibrotic disease.
Stem Cell Transplantation Intervention for MF
March 31st 2021

Stem Cell Transplantation Intervention for MF

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Ruben Mesa, MD, shares his thoughts on stem cell transplantation related to progression-free survival in MPNs, and Kathy Oubre highlights the importance of good working relationships.
Individual Treatment Plans for MPN Patients
March 31st 2021

Individual Treatment Plans for MPN Patients

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Jamile Shammo, MD, discusses creating individual treatment plans for MPNs and following patients to have a better understanding of how they will respond to treatment.
Patent laws and other issues block less expensive drug competitors for rare diseases
March 28th 2021

Report Lauds Orphan Drug Act but Notes Most Therapies Are Blocked From Competition

Allison Inserro
Although the FDA has approved 599 orphan drugs since 1983, patent laws and other exclusivities keep most from any competition.
Double helix
March 26th 2021

Genome Sequencing Producing Precise Diagnoses for Range of Rare Diseases

Jaime Rosenberg
A Swedish study analyzed 5 years’ worth of data from over 3000 patients, 40% of whom received a molecular diagnosis.
Using Technology to Increase Patient Adherence in MPNs
March 24th 2021

Using Technology to Increase Patient Adherence in MPNs

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Michael Reff, RPh, MBA; Kathy Oubre; and Ruben Mesa, MD, discuss how telehealth, technology, and innovation have increased patient adherence and created touch points with patients with MPNs.
Impact of Telehealth on MPNs During COVID-19
March 24th 2021

Impact of Telehealth on MPNs During COVID-19

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Jamile M. Shammo, MD, comments on telehealth and the impact on patients who have MPNs during the COVID-19 pandemic.
Assessing Novel Treatments to Reduce Thrombosis in PV, ET Requires New Approaches
March 20th 2021

Assessing Novel Treatments to Reduce Thrombosis in PV, ET Requires New Approaches

Jaime Rosenberg
According to the researchers, few treatments have been able to reduce the thrombotic burden in patients with polycythemia vera (PV) and essential thrombocytopenia (ET), and progress on this front has been hindered by a lack of studies designed to assess a treatment’s impact on thrombotic events.
Gene Expression Profiles May Provide Complementary Prognostic Information for MF
March 19th 2021

Gene Expression Profiles May Provide Complementary Prognostic Information for MF

Jaime Rosenberg
The researchers of the study say their findings may aid the hematological community in determining the value of integrating gene expression profiles in contemporary prognostic models to better identify high-risk patients with a poor prognosis.
Integrating New Practice Guidelines and Processes for MPNs
March 17th 2021

Integrating New Practice Guidelines and Processes for MPNs

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Kathy Oubre and Michael Reff, RPh, MBA, reflect on reactions to new guidelines for managing MPNs and how practices are integrating the new process, while Ruben Mesa, MD, shares his experience.
The Application of Guideline Adherence Around MPNs
March 17th 2021

The Application of Guideline Adherence Around MPNs

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Ruben Mesa, MD, and Jamile M. Shammo, MD, discuss treatment guidelines, pathways, and pharmacologic treatment options that play a role in the standard of care for MPNs.
How Does Race Play a Role in Complications, Survival in MPN?
March 13th 2021

How Does Race Play a Role in Complications, Survival in MPN?

Jaime Rosenberg
While the findings of the small study indicate that there was no statistically significant difference in the rate of vascular complications between White and non-White patients with disease, there were differences in survival.
Surgery
March 10th 2021

Novel Approach Fusing Top Neck Vertebrae Shows Promise in Bow Hunter Syndrome

Jaime Rosenberg
Study findings detail the researchers’ ability to prevent stroke in 11 patients ranging in age from 18 months to 15 years
Practice Guidelines and the Decision-Making Process for MPNs
March 10th 2021

Practice Guidelines and the Decision-Making Process for MPNs

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Michael Reff, RPh, MBA, and Kathy Oubre explain the internal guiding documents that aid a practice’s decision-making and workflow when treating patients with MPNs.
Heterogeneity of Therapy in Patients With MPNs
March 10th 2021

Heterogeneity of Therapy in Patients With MPNs

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Ruben Mesa, MD, and Jamile M. Shammo, MD, discuss available treatment options, such as JAK inhibitors, and the goals of treatment for patients with MPNs.
Approaching MPN Patient Treatment
March 3rd 2021

Approaching MPN Patient Treatment

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Jamile Shammo, MD, reviews methods for approaching patient treatment of MPNs and how it differs for each patient and symptom.
Building the Best Oncology Care Process for MPNs
March 3rd 2021

Building the Best Oncology Care Process for MPNs

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Kathy Oubre and Michael Reff, RPh, MBA, explain how they built the process and success factors of quality oncology care for MPNs.
FDA Approves First Treatment for Rare Genetic Metabolic Pediatric Disorder
March 2nd 2021

FDA Approves First Treatment for Rare Genetic Metabolic Pediatric Disorder

AJMC Staff
The disorder known as molybdenum cofactor deficiency (MoCD) Type A presents shortly after birth, often with severe encephalopathy and intractable seizures.
Spending on Orphan Drugs for Common Diseases? Not Rare at All, Study Says
March 1st 2021

Spending on Orphan Drugs for Common Diseases? Not Rare at All, Study Says

Allison Inserro
Most orphan drug spending does not actually go to patients with rare diseases, a new study shows.
GWAS Uncovers Variants Associated With Increased Risk of Addison Disease
February 27th 2021

GWAS Uncovers Variants Associated With Increased Risk of Addison Disease

Gianna Melillo
Researchers identified variants of 9 genes that increase the risk of developing the rare disease.
Diagnosis of MPNs
February 24th 2021

Diagnosis of MPNs

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Ruben Mesa, MD, discusses presentation and diagnosis of MPNs as well as life expectancies of ET [essential thrombocythemia], PV [polycythemia vera], and MF [myelofibrosis].
Overview of Myeloproliferative Neoplasms (MPNs)
February 24th 2021

Overview of Myeloproliferative Neoplasms (MPNs)

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Jamile Shammo, MD, reviews the various types of MPNs [myeloproliferative neoplasms] and how they differ from MDS [myelodysplastic syndrome].
FDA
February 23rd 2021

FDA Grants Ruxolitinib Priority Review to Treat Chronic GVHD

Laura Joszt, MA
The FDA has granted priority review of the supplemental New Drug Application for ruxolitinib for the treatment of steroid-refractory chronic graft-versus host disease (GVHD).
Top 5 Most-Read Rare Disease Stories of 2020
December 26th 2020

Top 5 Most-Read Rare Disease Stories of 2020

Skylar Jeremias
The top 5 most-read stories of 2020 about rare diseases on AJMC.com focused mainly on new and noteworthy treatment options for a variety of conditions.
Clarence Moore, PharmD, BCPS, BCOP
December 21st 2020

Dr Clarence Moore Discusses Patient Accessibility to Beta Thalassemia Treatments

Clarence Moore, PharmD, BCPS, BCOP, assistant professor at Shenandoah University in Ashburn, Virginia, discusses whether treatment methods for beta thalassemia are accessible to patients.
What We’re Reading: AstraZeneca to Buy Alexion; CDC Guidance on Vaccine, Allergy Concerns; First Vaccines Headed to States
December 14th 2020

What We’re Reading: AstraZeneca to Buy Alexion; CDC Guidance on Vaccine, Allergy Concerns; First Vaccines Headed to States

AJMC Staff
AstraZeneca has agreed to acquire Alexion Pharmaceuticals for $39 billion; CDC issues coronavirus disease 2019 (COVID-19) vaccine guidance for those with a history of severe reactions to vaccines; 2.9 million COVID-19 vaccine doses began traveling this past weekend to all 50 states.
Clarence Moore, PharmD, BCPS, BCOP
December 13th 2020

Dr Clarence Moore Discusses the Importance of Stem Cell Therapy, Heart Health in Beta Thalassemia

Clarence Moore, PharmD, BCPS, BCOP, assistant professor at Shenandoah University in Ashburn, Virginia, discusses how stem cell therapy and heart health can help patients manage beta thalassemia.
What We’re Reading: VA Health Care Fight; High Court Sides With States on PBMs; Ezogabine and ALS
December 11th 2020

What We’re Reading: VA Health Care Fight; High Court Sides With States on PBMs; Ezogabine and ALS

AJMC Staff
A funding dispute over how to account for a Veterans Affairs (VA) health care program is stalling deal to fund the government for another year; the Supreme Court rules in a case involving states and pharmacy benefit managers (PBMs); the antiepileptic drug ezogabine lowered the pathologic excitability of cortical and spinal motor neuron cells, which have a role in amyotrophic lateral sclerosis (ALS).
GWAS Identifies New Genetic Associations of Takayasu Arteritis
December 11th 2020

GWAS Identifies New Genetic Associations of Takayasu Arteritis

Gianna Melillo
Researchers identified new genetic associations that can predict individuals’ susceptibility to Takayasu arteritis, a rare type of vasculitis.
Ruxolitinib Shows Efficacy in Patients With Steroid-Resistant, Dependent Chronic GVHD
December 6th 2020

Ruxolitinib Shows Efficacy in Patients With Steroid-Resistant, Dependent Chronic GVHD

Jared Kaltwasser
The new data provide hope that the therapy will prove effective for a patient group with limited options.
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