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

blue science graphic
April 2nd 2022

Study Adds to Limited Data on SMA Genetic Landscape in Africa

Jaime Rosenberg
Acknowledging the small number of genetic reports used in their study, the researchers attribute the scarce amount of data to a lack of resources and limited access to genetic screening across Africa.
picture of bones in back
April 1st 2022

Case Report and Review Highlight Importance of Identifying Osteolytic Lesions in MPNs

Rose McNulty
A recent report details the first reported case of an osteolytic lesion in polycythemia vera and reviews current literature on osteolytic lesions in myeloproliferative neoplasms (MPNs) overall.
WWR banner
March 28th 2022

What We’re Reading: Epilepsy Drug Approval; Free COVID-19 Testing Ends; EPA Sued

AJMC Staff
The FDA approved a drug to treat a rare form of childhood epilepsy; uninsured Americans will no longer have access to free COVID-19 tests; a conservation group is suing the Environmental Protection Agency (EPA) over failure to protect rivers from pollution.
WWR banner
March 25th 2022

What We’re Reading: FDA Reviews ALS Drug; Vaccines Lower Long COVID-19; New COTA President, CEO

AJMC Staff
The FDA accepts an application for a drug to treat amyotriphic lateral sclerosis (ALS) for review; vaccines have been found to reduce people’s risk for developing long COVID-19; COTA announces Miruna Sasu, PhD, as its new president and CEO.
red cross
March 24th 2022

Case Series Assesses Clinical Features of Pediatric APS

Gianna Melillo
To enable a more personalized and proactive approach to pediatric antiphospholipid syndrome (APS), investigators assessed electronic medical records of 21 children.
Image of lab genetic research
March 20th 2022

Investigators Propose New Tool for Establishing Gene-Disease Relationships in Rare Diseases

Jared Kaltwasser
Advances in whole genome sequencing are helpful in linking genetic variants with diseases, but the process is more challenging in cases of rare and ultra-rare diseases.
Image of red blood cells
March 13th 2022

Potential Link Found Between Thrombotic Events, Mortality in Patients With PV, ET

Rose McNulty
Patients with polycythemia vera (PV) or essential thrombocythemia (ET) had a higher risk of thrombotic events than the general population, which was associated with mortality in a recent study.
What We're Reading
March 9th 2022

What We’re Reading: Testing COVID-19 Antiviral Pill in Children; Flavored e-Cigarette Loophole; New Kawasaki Disease Guideline

AJMC Staff
Pfizer will begin phase 2 and 3 trials of its COVID-19 antiviral pill in children 6 years and older; lawmakers respond after e-cigarette companies began using unregulated synthetic nicotine to get around FDA regulation; the American College of Rheumatology released a new guideline on the management of Kawasaki disease.
Image of lab research
March 7th 2022

PD-1/PD-L1 Pathway May Hold Promise in MDS/AML, Questions Remain

Jared Kaltwasser
A new review article outlines the latest research and results into programmed cell death-1/programmed cell death ligand-1 (PD-1/PD-L1) inhibitors for the treatment of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).
molecules
March 4th 2022

Case Studies Show Value of Flow Cytometry in MDS Diagnoses

Jared Kaltwasser
Investigators sought to show how individual cases could be clarified through the use of flow cytometry analysis.
one person highlighted in a crowd
March 2nd 2022

Report: Economic Burden of Rare Diseases Is 10 Times Higher Than Mass Market Diseases

Laura Joszt, MA
The economic burden of rare diseases based on direct, indirect, and mortality-related costs is 10 times greater than the burden for mass market diseases, such as diabetes and cardiovascular disease, and this burden increases when no treatment is available.
Image of doctors filling out forms
February 28th 2022

How Prior Authorization Can Impact Patients With Rare Disease

Allison Inserro
The prior authorization process is a hurdle to getting care for individuals with rare diseases and limited options, according to a rheumatologist and a patient interviewed just before Rare Disease Day.
Picture of infant
February 26th 2022

Report: Alpelisib Treated Rare Disease in Infants With Tissue Overgrowth

AJMC Staff
A recent case report described the successful treatment of 2 young infants with PIK3CA-related overgrowth spectrum using the breast cancer drug alpelisib.
Clinician examining thyroid
February 23rd 2022

Autoimmune Diseases, Especially Hypothyroidism, Associated With MDS Risk

Jared Kaltwasser
Patients with histories of inflammatory bowel disease and systemic lupus erythematosus were also at elevated risks of myelodysplastic syndromes (MDS), the authors found.
Bone marrow
February 19th 2022

Bone Marrow Fibrosis Holds Potential as Independent Prognostic Factor in MDS

Rose McNulty
Myelodysplastic syndrome has a variety of clinical presentations, including bone marrow fibrosis. Previously, the presence of fibrosis has not been considered in disease risk scoring in MDS, but recent research suggests it may be a valuable risk factor.
Image of a woman with cancer
February 17th 2022

Ruxolitinib Improves OS in Patients With Myelofibrosis vs Hydroxyurea Alone

Rose McNulty
An update to the ERNEST study found a survival benefit in ruxolitinib for the treatment of myelofibrosis in both the first and second line vs hydroxyurea.
doctor and patient in hospital
February 11th 2022

Model Can Predict Overall Survival in Myelofibrosis After Ruxolitinib Treatment

Laura Joszt, MA
The model identified risk factors after 6 months of treatment for the purposes of predicting overall survival and identifying which patients could benefit from a shift in treatment.
FDA approved icon
February 7th 2022

FDA Approves Sutimlimab for Cold Agglutinin Disease

AJMC Staff
The drug will be marketed by Sanofi under the name Enjaymo; it is the first treatment approved for cold agglutinin disease.
Genes and cells
January 19th 2022

Expert Panel Suggests Multidisciplinary Approach to Monitoring hATTR Amyloidosis

Christina Mattina
Blood samples for lab testing
January 1st 2022

Ponatinib, High-Dose Chemo Combo Likely to Benefit High-risk BP-CML

Maggie L. Shaw
Survival rates for patients with blast-phase chronic myeloid leukemia (BP-CML) are notoriously poor, necessitating effective treatments to fill the care gap for this group who often survive less than 1 year.
Top 5 Rare Disease Articles 2021
December 20th 2021

Top 5 Most-Read Rare Disease Articles of 2021

Hayden E. Klein
The top 5 most-read rare disease articles of 2021 on AJMC.com highlighted research on medications, therapies, and diagnosing tools to treat myelofibrosis, hemophilia B, chronic graft-vs-host disease, necrotizing myopathy, and myeloproliferative neoplasms.
telehealth
December 19th 2021

Virtual Care Reduced Illness, Death Due to COVID-19 for Patients With Sickle Cell Disease

Laura Joszt, MA
As the pandemic wore on, fewer patients with sickle cell disease who did contract COVID-19 needed to be hospitalized.
Voxelotor for Sickle Cell Disease Wins FDA Nod for Patients as Young as 4
December 17th 2021

Voxelotor for Sickle Cell Disease Wins FDA Nod for Patients as Young as 4

Allison Inserro
The oral polymerization inhibitor, a first-in-class therapy for sickle cell disease, was first approved by the FDA for adults and pediatric patients 12 years of age and older in 2019.
Report Highlights Case of Shellfish Allergy–Induced Overlap Chronic GVHD Following SCT
December 12th 2021

Report Highlights Case of Shellfish Allergy–Induced Overlap Chronic GVHD Following SCT

Jaime Rosenberg
In a recent case report, researchers outlined the case of a patients with shellfish allergy–induced overlap chronic graft versus host disease (ocGVHD)—a case of GVHD that has components of both acute and chronic GVHD.
red cross
December 9th 2021

Study Examines Relapse Risk in GVHD After Allo-HCT Using 2 Therapy Options

Jared Kaltwasser
Despite the increase in relapse risk, 2-year survival for patients with graft-versus-host disease (GVHD) who received matched sibling donor (MSD) allogeneic hematopoietic cell transplant (allo-HCT) administered post-transplant cyclophosphamide remained similar compared with patients receiving cyclosporine A with methotrexate prophylactically.
brain graphic
December 7th 2021

Review Highlights Role of Clinical Pharmacology in Approvals of Past, Future Rare Neurological Disease Therapies

Jared Kaltwasser
Fifty-one therapies have been approved for rare neurological diseases since the FDA passed the Orphan Drug Act in 1983.
Pregnant woman
December 3rd 2021

Case Report Suggests Improved Outcomes of PV During Pregnancy With Cytoreductive Treatment, Aspirin

Jaime Rosenberg
According to the researchers, the case study suggests that better results are achieved when using cytoreductive treatment and low-dose aspirin.
FDA Extends Review for Pacritinib for Treatment of Myelofibrosis With Severe Thrombocytopenia
November 30th 2021

FDA Extends Review for Pacritinib for Treatment of Myelofibrosis With Severe Thrombocytopenia

AJMC Staff
CTI BioPharma's New Drug Application had previously been granted Priority Review. The PDUFA date was November 30.
Cancer gene therapy
November 24th 2021

Researchers Identify Novel Biomarker, Therapeutic Target for Polycythemia Vera

Jaime Rosenberg
The data set included 177 samples from polycythemia vera, essential thrombocytopenia, primary myelofibrosis, and healthy donors, from which the researchers found that MAPK14 was overexpressed in PV samples and was associated with more symptoms and worse outcomes.
broken office chair
November 17th 2021

Significant Amount of Patients Remain on Sick Leave 1 Year Following Allo-HSCT, Study Says

Jaime Rosenberg
The findings showed that between 2009 to 2016, 76% of the 122 patients included in the study were on sick leave a year following their allogeneic hematopoietic stem cell transplantation (allo-HSCT).
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