Rare Disease

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5 Rare Disorders Named for Pioneering Female Scientists

May 23rd 2025

Explore 5 rare genetic and neurological disorders named after pioneering women in medicine, highlighting their significant contributions to previously unknown conditions.

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

Gene therapy, gene editing concept | image credit: vchalup - stock.adobe.com
Delandistrogene Moxeparvovec Fails to Meet Primary End Point in Phase 3 Study

November 15th 2024

Patients with SMA and their caregivers stand to benefit from shared decision-making processes | image credit: Intelligent Horizons - stock.adobe.com
Shared Decision-Making Is Essential Prior to SMA-Enhancing Treatments

November 8th 2024

More News

old man
July 8th 2021

Ruxolitinib Improves Survival for Older Patients With Primary Myelofibrosis

Jaime Rosenberg
The findings, coming from nearly a decade’s worth of retrospective data on patients aged at least 65 years, offer real-world evidence on the treatment’s impact on survival.
Patients With Early Myelofibrosis Need Improved Prognostic Models, Study Says
July 2nd 2021

Patients With Early Myelofibrosis Need Improved Prognostic Models, Study Says

Jaime Rosenberg
The findings, say the researchers, highlight a need for prognostic models specific to patients with prefibrotic primary myelofibrosis (pre-PMF).
AML graphic
June 26th 2021

AML, MF Remain Top Causes of Mortality Among Patients With MF Over Last 3 Decades

Jaime Rosenberg
This finding, say the researchers of the study, suggests an ongoing need for research and novel therapies for patients with the rare disorder.
graphic of Ruxolitinib myelofibrosis cancer drug molecule
June 18th 2021

Novel Ruxolitinib Combo Shows Promise in Myelofibrosis

Jaime Rosenberg
Presented as an abstract at the European Hematology Association 2021 Virtual Congress, the study results showed the novel combination resulted in early disease modification among 34 patients.
pills and syringe
June 12th 2021

Greater Understanding of PV, ET Drives Potential New Treatment Options

Jaime Rosenberg
The novel agents are a result of a greater understanding of the conditions and may modify the diseases’ course and cytoreduction, researchers said.
computer chip
June 10th 2021

European Data Initiative Aims to Solve Rare Diseases

Gianna Melillo
Using the new data initiative, researchers hope to diagnose unsolved cases of rare diseases.
people
June 5th 2021

Peer-Delivered Intervention Can Increase Patients’ Acceptance of Rare Diseases

Gianna Melillo
Results of a clinical trial indicate peer-delivered interventions can help patients with rare diseases achieve disease acceptance.
Chemical structure of ruxolitinib
June 3rd 2021

Early Initiation of Ruxolitinib Reduces Risk, Severity of aGVHD

Jaime Rosenberg
The study of 57 patients with acute graft-versus-host disease (aGVHD) also showed that patients tolerated the treatment, offering promise for preventing and managing the complication of transplantation, which affects up to half of patients.
Illustration of blood droplet
May 31st 2021

Novel Approaches Needed to Mitigate Myelofibrosis Persistence, Say Researchers

Jaime Rosenberg
According to researchers, type 2 inhibitors do not seem to result in persistence of disease. In one mouse model, the inhibitor type was shown to also have a greater effect on disease biology.
Caring for Children With AADC-d Impacts Parental Ability to Work, Study Shows
May 28th 2021

Caring for Children With AADC-d Impacts Parental Ability to Work, Study Shows

Allison Inserro
The study portrays the intense need for daily care experienced by children with aromatic L-Amino acid decarboxylase deficiency (AADC-d) and their families.
health graphic
May 26th 2021

Trial Finds Rituximab Is Superior to Mycophenolate Mofetil in Treating Pemphigus Vulgaris

Gianna Melillo
A phase 3 trial explored which treatment option for pemphigus vulgaris, a rare skin disease, resulted in better outcomes after 52 weeks.
Double helix against white background
May 22nd 2021

With No Treatment for Tangier Disease, Management Focuses on Preventing Atherosclerosis

Jaime Rosenberg
There are no curative treatments for Tangier disease, but gene therapy for ABCA1 has been highlighted as a potential avenue for treating the disease, say the researchers of the paper.
sickle cell disease
May 21st 2021

The Economic Burden and Impact on HRQOL of Sickle Cell Disease

Laura Joszt, MA
Patients with sickle cell disease face substantial health care utilization and impaired health-related quality of life (HRQOL).
newborn baby being held by mother
May 16th 2021

Real-world Evidence Supports Conditional Use of IV Formula in Hospitalized Infants With MSUD

Skylar Jeremias
Hospitalized infants with the rare metabolic disorder maple syrup urine disease (MSUD), who are intolerant to oral or enteral administration of branched-chain amino acid-free formula, may benefit from an intravenous formulation.
Health care costs
May 7th 2021

Complications of Steroid Use in GVHD Associated With Higher Health Care Usage, Costs

Jaime Rosenberg
For patients with acute and chronic graft-vs-host disease (GVHD), systemic treatment with steroids is the standard of care, and although steroid-related complications are common, the associated health care resource utilization and costs are not well documented.
How Does Imaging Perform in Diagnosing MPNs?
May 1st 2021

How Does Imaging Perform in Diagnosing MPNs?

Allison Inserro
The current standard calls for bone marrow biopsies, which are invasive and costly.
Novel Approaches to Treating Polycythemia Vera Needed, Say Researchers
April 29th 2021

Novel Approaches to Treating Polycythemia Vera Needed, Say Researchers

Jaime Rosenberg
The current treatment landscape of polycycthemia vera (PV) hinges on treatments like hydroxyurea and ruxolitinib, the latter having emerged as an effective second-line therapy in patients with severe pruritis, symptomatic splenomegaly, or post-PV myelofibrosis symptoms.
Assessing Best Practices in Managing Pregnancy, Myeloproliferative Neoplasms
April 24th 2021

Assessing Best Practices in Managing Pregnancy, Myeloproliferative Neoplasms

Matthew Gavidia
Researchers discuss the unique fetal and maternal challenges for pregnant women with myeloproliferative neoplasms, with insight and recommendations provided on the potential benefit of aspirin therapy, cytoreductive therapy, and systemic anticoagulation.
Report quantifies direct, indirect costs of rare disease
April 23rd 2021

Including Indirect Costs, Rare Disease Toll Nearly $1 Trillion, Report Says

Larry Hanover
According to the report, direct medical costs represented less than half ($418 billion, or 43%) of overall annual costs.
syringe over pill capsule background
April 15th 2021

Several Treatment Classes Show Promise in Treatment of PV

Jaime Rosenberg
The review comes amid growing attention directed at identifying treatments that can prevent progression of polycythemia vera (PV) to myelofibrosis or an aggressive form of acute myeloid leukemia.
Management of MPN: Benchmarks For Quality Care
April 14th 2021

Management of MPN: Benchmarks For Quality Care

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Ruben Mesa, MD, leads a discussion on key benchmarks and final thoughts about good-quality care programs for patients with MPNs, including parameters for judging efficacy and safety.
Patient Compliance: Role of Pharmacists on MPN Care Teams
April 14th 2021

Patient Compliance: Role of Pharmacists on MPN Care Teams

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Jamile Shammo, MD, Ruben Mesa, MD, and Michael Reff, RPh, MBA, discuss having pharmacists on MPN care teams and the effect they have on patient compliance.
Newspapers.
April 13th 2021

What We're Reading: UK Variant Not Linked With Severe Disease; COVID-19 Hospitalization in Children; Therapy Setbacks in Huntington Disease

AJMC Staff
A new study finds no link between the UK COVID-19 variant and more severe disease; study finds more than 1 in 10 US children with COVID-19 hospitalized; therapy setbacks in Huntington disease.
Graphic of red blood cells
April 9th 2021

Ruxolitinib Drives High Rate of Transplantation for Patients With Myelofibrosis

Jaime Rosenberg
The study also indicated that the type of transplantation donor impacted outcomes following the procedure.
Overcoming Barriers to Treatment Adherence in MPN
April 7th 2021

Overcoming Barriers to Treatment Adherence in MPN

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Michael Reff, RPh, MBA, provides insight on adherence programs for MPNs and discusses why patients may not be adherent to therapies.
Enhancing Patient Adherence in MPN
April 7th 2021

Enhancing Patient Adherence in MPN

Bruce Feinberg, DO Kathy Oubre, MS Michael Reff, RPh, MBA Jamile M. Shammo, MD Ruben Mesa, MD
Kathy Oubre and Michael Reff, RPh, MBA, address the lack of treatment adherence among patients with MPNs and how to overcome this with a best-practice approach.
graphic of people
April 3rd 2021

Case of Shulman Syndrome Highlights Importance of MRI in cGVHD Treatment Decisions

Jaime Rosenberg
According to authors, magnetic resonance imaging (MRI) should be used when incomplete signs of the rare complication are presented to help guide the skin biopsy.
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.
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