Rare Disease

Latest News

FDA Approved | Image credit: B-design - stock.adobe.com
FDA Approves First RNA-Targeted Treatment for Hereditary Angioedema

August 21st 2025

The approval makes donidalorsen the only treatment in the US for hereditary angioedema that is an RNA-targeted prophylactic.

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

August 19th 2025

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

More News

FDA Approval
August 17th 2020

FDA Approves Third Drug for NMOSD

AJMC Staff
Satralizumab is the third drug to be approved by the FDA for neuromyelitis optica spectrum disorder (NMOSD).
Report Details First Noted Pediatric Case of Autoimmune Myelofibrosis
August 14th 2020

Report Details First Noted Pediatric Case of Autoimmune Myelofibrosis

Jaime Rosenberg
An adolescent boy went to his physician with a headache that got worse with physical activity. Testing showed autoimmune myelofibrosis.
Real-World Study Backs Long-term Use of Ruxolitinib in Myelofibrosis
August 12th 2020

Real-World Study Backs Long-term Use of Ruxolitinib in Myelofibrosis

Jaime Rosenberg
A real-world study showed that ruxolitinib is a safe treatment for patients with myelofibrosis.
Blood cells
August 9th 2020

Commentary Shares Insights About Irradiated Blood to Prevent TA-GVHD

Jaime Rosenberg
A new commentary outlines UK guidance about evidence regarding the appropriateness of blood component irradiation for preventing transfusion-associated graft-versus-host disease (TA-GVHD).
FDA Approves At-Home Oral Treatment for Spinal Muscular Atrophy
August 7th 2020

FDA Approves At-Home Oral Treatment for Spinal Muscular Atrophy

AJMC Staff
The FDA has approved risdiplam, the first at-home, oral treatment for spinal muscular atrophy.
crowd of people
August 7th 2020

JUMP Provides Additional Safety, Efficacy Data on Ruxolitinib in Myelofibrosis

Laura Joszt, MA
In the primary analysis of a phase 3 study, ruxolitinib reduced spleen length and symptoms in patients with myelofibrosis, according to results published in British Journal of Haemotology.
Research Offers Clues Into T Cell Differentiation in Worsening of Acute Gut GVHD
August 1st 2020

Research Offers Clues Into T Cell Differentiation in Worsening of Acute Gut GVHD

Jaime Rosenberg
Previous research has established acute graft-versus-host disease (GVHD) in the gastrointestinal tract as the primary cause of both GVHD severity and mortality, and as a result, emphasis is placed on preventing acute gut GVHD while still preserving the graft-versus-leukemia effect of allogeneic hematopoietic stem cell transplantation.
Disease Management Strategies Among Patients With MPNs
July 30th 2020

Disease Management Strategies Among Patients With MPNs

Laura Joszt, MA
Patients with myeloproliferative neoplasms (MPNs) have high disease burden, and management of their disease can vary widely to include watchful waiting, phlebotomy, or drug therapy.
Supplemental Process Can Aid in Assessing Value of Rare Disease Treatments
July 25th 2020

Supplemental Process Can Aid in Assessing Value of Rare Disease Treatments

Skylar Jeremias
A study looking at the ways in which different countries handle appraisal and reimbursement processes for rare disease treatments (RDTs) revealed that implementing supplemental processes can aid in patient and physician decision making.
Ruxolitinib Improves ORR Over Best Available Therapy in Patients With Chronic GVHD
July 24th 2020

Ruxolitinib Improves ORR Over Best Available Therapy in Patients With Chronic GVHD

AJMC Staff
A phase 3 study of ruxolitinib (Jakafi) has met its primary end point of superior overall response rate (ORR) compared with the best available therapy in patients with moderate or severe steroid-refractory or steroid dependent chronic graft-versus-host disease (GVHD).
Therapy Provides Readily Available Stem Cell Source to Treat Rare Genetic Diseases
July 22nd 2020

Therapy Provides Readily Available Stem Cell Source to Treat Rare Genetic Diseases

Laura Joszt, MA
Umbilical cord blood provides a readily available source of stem cells to provide better access to hematopoietic stem cell transplantation to safely and effectively treat various noncancerous genetic disorders in children.
App-Based Meditation Can Alleviate Mental Health Difficulties in Patients With MPNs
July 14th 2020

App-Based Meditation Can Alleviate Mental Health Difficulties in Patients With MPNs

Laura Joszt, MA
Using mindfulness meditation apps may provide an effective way to self-manage and reduce depression and anxiety in patients with myeloproliferative neoplasm (MPNs).
Review Calls For Clear Guidance to Ensure Patient Centricity in Orphan Drug Trials
July 12th 2020

Review Calls For Clear Guidance to Ensure Patient Centricity in Orphan Drug Trials

Skylar Jeremias
Researchers called for new guidance to address the underreporting of patient engagement in rare disease clinical trials after finding a dismal amount of patient-reported outcome measures listed in orphan drug labeling claims.
FDA Approves At-Home Therapy to Treat Myelodysplastic Syndromes
July 11th 2020

FDA Approves At-Home Therapy to Treat Myelodysplastic Syndromes

Laura Joszt, MA
A new oral therapy approved by the FDA will provide patients with myelodysplastic syndromes, who typically visit a health care facility for intravenous treatment, with an oral at-home option that can be beneficial during the coronavirus pandemic.
Interim Analysis Finds Benefits of Ruxolitinib to Treat PV in Patients Intolerant/Resistant to Hydroxyurea
July 7th 2020

Interim Analysis Finds Benefits of Ruxolitinib to Treat PV in Patients Intolerant/Resistant to Hydroxyurea

Laura Joszt, MA
A 52-week interim analysis confirmed previous findings highlighting the benefits of ruxolitinib in patients with polycythemia vera (PV) who are resistant or intolerant to hydroxyurea. The full study findings with a 24-month follow-up are still to come.
Authors Call for More Research on Rare Blood Cancers to Fill Knowledge Gaps
July 4th 2020

Authors Call for More Research on Rare Blood Cancers to Fill Knowledge Gaps

Skylar Jeremias
Authors hope that identifying knowledge gaps surrounding rare blood cancers, such as essential thrombocythemia and polycythemia vera, will inspire the science community to invest in new comprehensive research on how to properly diagnose and treat patients.
Ruxolitinib Significantly Improves ORR in Acute GVHD Compared With Best Available Therapy
June 30th 2020

Ruxolitinib Significantly Improves ORR in Acute GVHD Compared With Best Available Therapy

Laura Joszt, MA
Patients with steroid refractory acute graft-versus-host-disease (GVHD) have a better overall response rate (ORR) when treated with ruxolitinib compared with the best available therapy, according to results from a phase 3 trial presented at the European Hematology Association’s annual meeting.
How Is Machine Learning Being Used to Improve Treatment of Rare Diseases?
June 26th 2020

How Is Machine Learning Being Used to Improve Treatment of Rare Diseases?

Laura Joszt, MA
There are thousands of rare diseases, but they each affect so few patients that diagnosis and treatment can be delayed by years. Researchers examined how machine learning has been studied in rare diseases and identified areas of opportunity where future studies can improve care and treatment of rare diseases.
Role of JAK Inhibitors in Treating Patients With Myelofibrosis
June 26th 2020

Role of JAK Inhibitors in Treating Patients With Myelofibrosis

Skylar Jeremias
A review on the effects of Janus kinase (JAK) inhibitors for the treatment of myelofibrosis, including the first approved, ruxolitinib, and others currently in development.
Ruxolitinib's Impact on OS in the Real World for Elderly Patients Diagnosed With Myelofibrosis
June 17th 2020

Ruxolitinib's Impact on OS in the Real World for Elderly Patients Diagnosed With Myelofibrosis

Laura Joszt, MA
In the real-world, ruxolitinib's approval to treat myelofibrosis has improved overall survival (OS) for elderly patients.
Combination Therapy More Effective Than Standard Treatment for Rare Blood Disease
June 16th 2020

Combination Therapy More Effective Than Standard Treatment for Rare Blood Disease

Skylar Jeremias
A study conducted by Mayo Clinic researchers revealed that a combined treatment featuring daratumumab in conjunction with the standard-of-care for patients with amyloid light-chain (AL) amyloidosis was more effective in improving the condition than the standard treatment alone.
Orphan Drug Reimbursements Create Tough Situation for South Korean Public Budget
June 12th 2020

Orphan Drug Reimbursements Create Tough Situation for South Korean Public Budget

Skylar Jeremias
A data analysis of real-world data found that the rise of orphan drugs (ODs) in the Republic of Korea has not solved all patient accessibility issues as budget concerns can make it difficult to justify reimbursements.
The US Has Higher Incidence, Survival of Rare Cancers Compared With Europe
June 6th 2020

The US Has Higher Incidence, Survival of Rare Cancers Compared With Europe

Laura Joszt, MA
The incidence of rare cancers is higher in the United States than in Europe, but so is the survival rate, according to a study published in Cancer Medicine.
Test Determines Whether Children Will Respond to Rare Disease Treatment
June 4th 2020

Test Determines Whether Children Will Respond to Rare Disease Treatment

Gianna Melillo
Researchers created a test to determine which children with Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase (CAD) gene deficiency will benefit from receiving a nutritional supplement previously deemed effective in children with the condition, according to a study published in Genetics in Medicine.
Discontinuation of Ruxolitinib May Worsen Outcomes for Patients With Myelofibrosis
May 28th 2020

Discontinuation of Ruxolitinib May Worsen Outcomes for Patients With Myelofibrosis

Laura Joszt, MA
Discontinuation of ruxolitinib was associated with increased morbidity burden and worse outcomes among patients with myelofibrosis.
Trastuzumab Deruxtecan Gets Orphan Drug Status for Gastric Cancer
May 24th 2020

Trastuzumab Deruxtecan Gets Orphan Drug Status for Gastric Cancer

AJMC Staff
Trastuzumab deruxtecan, an antibody–drug conjugate (ADC) marketed as Enhertu, has been granted Orphan Drug Designation (ODD) for the treatment of gastric cancer, including gastroesophageal junction cancer.
Ruxolitinib May Be More Cost-Effective Than BAT for Patients With Hydroxyurea Resistant/Intolerant PV
May 23rd 2020

Ruxolitinib May Be More Cost-Effective Than BAT for Patients With Hydroxyurea Resistant/Intolerant PV

Skylar Jeremias
Ruxolitinib was found to be more cost-effective than the best available therapy (BAT) when the willingness-to-pay threshold for payers was at $150,000 and applied to patients with hydroxyurea resistant/intolerant polycythemia vera (PV) without splenomegaly, according to a new study.
Ruxolitinib Appears Better Than Other Options in Glucocorticoid-Refractory Acute GVHD, Study Says
May 22nd 2020

Ruxolitinib Appears Better Than Other Options in Glucocorticoid-Refractory Acute GVHD, Study Says

Allison Inserro
Glucocorticoid-refractory acute graft-versus-host disease (GVHD) develops in approximately 50% of allogeneic stem-cell recipients and is a major cause of death.
Case Studies Outline T-Cell Malignancies in Patients With Myeloproliferative Neosplasms
May 9th 2020

Case Studies Outline T-Cell Malignancies in Patients With Myeloproliferative Neosplasms

Jared Kaltwasser
A new report on 3 rare cases of patients with myeloproliferative neoplasms who developed T-cell malignancies sheds light on red flags clinicians should look for.
Myeloproliferative Neoplasms Linked With Respiratory Mortality, Study Says
May 9th 2020

Myeloproliferative Neoplasms Linked With Respiratory Mortality, Study Says

Jared Kaltwasser
A new large-scale study of patients with myeloproliferative neoplasm finds they are at twice the risk of mortality from respiratory disease.
<1
...
789101112131415
...
31>

2 Commerce Drive
Suite 100
Cranbury, NJ 08512

© 2025 MJH Life Sciences® and AJMC®.
All rights reserved.

About
Contact
Editorial Boards
Advertise
Do Not Sell My Information
Terms & Conditions
Privacy Policy
AJMC Managed Markets Network Logo
CH LogoCenter for Biosimilars Logo