Rare Disease

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FDA headquarters | Image Credit: Tada Images - stock.adobe.com
FDA Issues CRL for Vatiquinone in Friedreich Ataxia, Requests More Efficacy Data

August 19th 2025

Today, the FDA issued a complete response letter (CRL) for vatiquinone (PTC Therapeutics), delaying its potential approval as a treatment for Friedreich ataxia amid efficacy concerns.

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

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

More News

Genetic Screening Could Have Promise for Reducing Infant Deaths
February 11th 2023

Genetic Screening Could Have Promise for Reducing Infant Deaths

Julia Bonavitacola
An analysis of 112 infant deaths found that the contribution of genetic diseases to mortality was higher than previously known, and that treatments are available for 30% of the genetic diseases uncovered by the study.
graphic depicting children
February 3rd 2023

Unmet Psychosocial Needs of Caregivers Impacted HRQOL for Children With Rare Diseases During the Pandemic

Justina Petrullo
At the start of the COVID-19 pandemic, high levels of distress, overwhelm with daily problems, and unmet psychosocial information needs decreased caregiver-reported health-related quality of life in children with rare diseases.
Doctor using clipboard.
January 28th 2023

Case Report on Portal Vein Thrombosis Linked With Pregnancy, Iron Deficiency Anemia After C-Section in Patient With PV

Matthew Gavidia
Researchers explored the case of a 40-year-old woman with polycythemia vera (PV) who developed a portal vein occlusion 1.5 months postpartum after C-section.
Hospital patient.
January 26th 2023

Bleeding Risk More Than Doubled for AMI Hospitalization With ET

Matthew Gavidia
High bleeding risk was seen among patients hospitalized with acute myocardial infarction (AMI) who had essential thrombocythemia (ET), particularly those treated with percutaneous coronary intervention.
Roger M. Lyons, MD, FACP
January 25th 2023

Roger M. Lyons, MD, Discusses 10-Year Review of MDS Patient Data From the Community Oncology Setting

Interview by Mary Caffrey
Evidence-Based Oncology™️ spoke with Lyons about the creation of this real-world data set and the pros and cons of different treatments for MDS.
Image of genetic sequencing
January 23rd 2023

Low-risk MDS Management May Change as New Technology, Therapies Emerge

Jared Kaltwasser
A new review article shows how technologies like next-generation sequencing might help clinicians tailor care for myelodysplastic syndromes (MDS).
Image of laboratory testing
January 10th 2023

Secondary ADAPT Analysis Shows HRQOL Benefit of Efgartigimod in Myasthenia Gravis

Jaime Rosenberg
Data from the secondary analysis show that the improvements seen in health-related quality of life (HRQOL) translated into clinical improvements.
Top 5 Rare Disease Articles of 2022
December 23rd 2022

Top 5 Most-Read Rare Disease Articles of 2022

Justina Petrullo
The most-read rare disease articles of the year included the topics of new pediatric central nervous system tumor guidelines, graft versus host disease, the contribution of gene variants to pediatric neuropsychiatric conditions, and hope for patients with blast-phase chronic myeloid leukemia.
Image of human body
December 19th 2022

Stiff Person Syndrome Spectrum Disorders: Knowledge Gaps and Future Research Considerations

Rose McNulty
Although rare, stiff person syndrome spectrum disorders can significantly affect patient quality of life, and current knowledge gaps warrant further research.
graphic depicting clinical trial
December 13th 2022

Real-world Study Confirms Clinical Benefit of Ruxolitinib in Heavily Pretreated cGVHD

Rose McNulty
A multicenter study supports the use of ruxolitinib in steroid-refractory and steroid-dependent chronic graft-versus-host disease, adding to promising clinical trial findings.
picture of an ICU
December 12th 2022

Report Details Severe Case of ARDS Following Ruxolitinib Discontinuation

Rose McNulty
The report is the first recorded case of acute respiratory distress syndrome (ARDS) that required venovenous extracorporeal membrane oxygenation and was complicated by spontaneous spleen rupture.
Image of clinical research
November 9th 2022

Need for More Research Into Chronic GVHD After Allogeneic HSCT Highlighted in New Review

Rose McNulty
Although the understanding of chronic graft-versus-host disease (GVHD) has improved in recent years, more work is needed to facilitate personalized treatments for patients after hematopoietic stem cell transplantation (HSCT).
Image of the blood
November 1st 2022

Non–Driver Gene Mutations May Hold Predictive Value in ET and PV

Rose McNulty
A recent study supports the notion that non–driver mutations in essential thrombocythemia (ET) and polycythemia vera (PV) have predictive value and found that a proposed international prognostication model may be useful for Japanese patients.
stethoscope on question mark
October 21st 2022

Clarifying Different Characteristics of Erythrocytosis

Rose McNulty
JAK2-unmutated erythrocytosis has a variety of etiologies, and identifying the underlying cause may prove helpful in cases where it is secondary to another condition such as polycythemia vera.
Stem Cells Highlighted as Potential Therapeutic Option in Huntington Disease
October 15th 2022

Stem Cells Highlighted as Potential Therapeutic Option in Huntington Disease

Rose McNulty
Although no pharmacological treatment offers long-term efficacy or extends survival with Huntington disease at this point, research suggests that stem-cell therapy holds promise in this and other neurodegenerative diseases.
Fatigued man
October 12th 2022

Patients With Lower-Risk MF, Low- or High-Risk ET Report Significant QOL Impacts

Rose McNulty
Despite the use of therapies to address the clinical manifestations of myelofibrosis (MF) and essential thrombocythemia (ET), the symptom burdens of these conditions continue to negatively affect patient quality of life (QOL).
thrombosis
October 8th 2022

Diagnostic and Treatment Considerations for Splanchnic Vein Thrombosis in MPN

Rose McNulty
The review highlighted key diagnostic and treatment considerations for patients with splanchnic vein thrombosis and myeloproliferative neoplasms.
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October 5th 2022

Scenario Analysis When Conducting Budget Impact Analyses for Rare Diseases

Eric P. Borrelli, PhD, PharmD, MBA R. Scott Leslie, PhD, MPH
The authors propose conducting a scenario analysis for interventions to treat rare diseases by varying health plan size to demonstrate the variability of potential budget impact.
image of a patient
September 30th 2022

How the Name Change to Myeloproliferative Neoplasms Affected People With the Disease

Leah Lawrence
A decision to rename myeloproliferative neoplasms led to a plethora of developments in a space where there was once little interest.
graphic of brain
September 19th 2022

bluebird bio Receives FDA Accelerated Approval for Rare Brain Disease Gene Therapy

AJMC Staff
The gene therapy is the first treatment for active cerebral adrenoleukodystrophy, a fatal neurodegenerative disease that affects boys.
Bone marrow blast cells
September 13th 2022

Early Timing, Optimal Conditioning Maximize Outcomes of Allo-SCT in MDSs and MPNs

Rose McNulty
A review published in Frontiers in Oncology explored the application of allo-SCT for myelodysplastic syndromes and myeloproliferative neoplasms.
What We're Reading
September 8th 2022

What We’re Reading: TX Judge Rules Against ACA PrEP Coverage; FDA Advisers Recommend ALS Drug Approval; Walmart, UnitedHealth Partnership

AJMC Staff
A Texas judge ruled that HIV pre-exposure prophylaxis (PrEP) coverage under the Affordable Care Act is unconstitutional; an FDA advisory panel recommended the approval of an experimental drug for amyotrophic lateral sclerosis (ALS); Walmart and UnitedHealth Group are collaborating to provide preventive health care for older Americans.
Group of young adults
September 5th 2022

Guidelines Needed for Managing MPNs in AYA Patients, Review Says

Rose McNulty
The management of myeloproliferative neoplasms (MPNs) in adolescent and young adult (AYA) patients is currently similar to that of older patients. However, comprehensive research is needed to form guidelines for this younger population.
What We're Reading
September 1st 2022

What We’re Reading: FDA Approves First ASMD Treatment; Amended EUA for COVID-19 Boosters; Blood Type and Stroke Risk

AJMC Staff
Olipudase alfa (Xenpozyme) was granted FDA approval for patients with Acid Sphingomyelinase Deficiency (ASMD); Moderna and Pfizer-BioNTech’s bivalent COVID-19 vaccines are each authorized for use as a booster dose; people with type A blood have an 18% higher risk of stroke before age 60, compared with other blood types.
FDA Approves Pemigatinib for Myeloid/Lymphoid Neoplasms With FGFR1 Rearrangement
August 26th 2022

FDA Approves Pemigatinib for Myeloid/Lymphoid Neoplasms With FGFR1 Rearrangement

AJMC Staff
The FDA Friday approved pemigatinib (Pemazyre), a selective fibroblast growth factor (FGFR) inhibitor, to treat adults who have relapsed or refractory (R/R) myeloid/lymphoid neoplasms (MLNs) with FGFR1 rearrangement, a very rare and aggressive cancer.
Image of patients
August 22nd 2022

Better HRQOL, Health Literacy Seen in Systemic Mastocytosis vs Mast Cell Activation Syndrome

Rose McNulty
Systemic mastocytosis and mast cell activation syndrome both negatively impact health-related quality of life (HRQOL), with mast cell activation syndrome patients reporting more significant impacts on everyday life.
Image of a child's face
August 15th 2022

Risk of Pediatric Neuropsychiatric Conditions Linked to Rare Genomic Variants, Intellectual Disability

Rose McNulty
Early genomic testing could identify the children who are most at risk and provide opportunities to intervene as early as possible.
CT scans of sinus
August 7th 2022

Review: Fine-Tuning Sinonasal Cancer Management Requires Increased Awareness and Further Clinical Studies

Rose McNulty
The rarity of sinonasal cancers presents various challenges for advancing disease management.
picture of teddy bear
August 4th 2022

NCCN Publishes Guidelines for Deadly Pediatric CNS Tumors

Jaime Rosenberg
The recommendations follow the World Health Organization’s recent update to its classifications of central nervous system (CNS) tumors to now include a structure for pediatric patients with CNS tumors.
Image of a newborn
August 2nd 2022

Large-scale Studies Needed to Guide Newborn Screening for Rare Diseases

Rose McNulty
Despite the known potential benefits of newborn screening, the exact long-term clinical benefits and cost-effectiveness in large cohorts remain uncertain due to a lack of large-scale longitudinal research.
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