Rare Disease

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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

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).
GVHD Insights Point to Importance of Immunometabolism to Control Disease
November 13th 2021

GVHD Insights Point to Importance of Immunometabolism to Control Disease

Jaime Rosenberg
According to the study authors, a growing number of findings from preclinical studies have suggested a focus on immunometabolism to modulate alloreactive donor T cell responses to control graft-versus-host disease (GVHD) and promote graft-versus-tumor effect.
Person in magnifying glass
November 12th 2021

Novel Treatment Approach for Ultrarare MDH2D Detailed in Patient Case

Jaime Rosenberg
To date, just 3 previous reports have detailed cases of mitochondrial malate dehydrogenase deficiency (MDH2D), and there are no known cures.
Blood for genetic sequencing
November 6th 2021

Whole Genome Sequencing Increased Discovery of Rare Disorders by 31% in UK Study

AJMC Staff
The authors backed plans for the United Kingdom to establish a national diagnostic program based on whole genome sequencing (WGS) to speed the time to diagnosis.
Patients With MPNs Face Higher Cardiovascular Risks, in Addition to AML Risk
October 30th 2021

Patients With MPNs Face Higher Cardiovascular Risks, in Addition to AML Risk

Jared Kaltwasser
A new analysis suggests physicians should be on the lookout for cardiovascular disease and other types of cancer, in addition to acute myeloid lymphom, when caring for patients with certain myeloproliferative neoplasms (MPNs).
Review: Treatment Options Expanding in GVHD After HSCT, but More Data Needed
October 26th 2021

Review: Treatment Options Expanding in GVHD After HSCT, but More Data Needed

Jared Kaltwasser
A new review article highlights some of the newest therapies available to treat graft-versus-host disease (GVHD), but the authors say there is insufficient data to draw broad conclusions.
graphic of gene alteration
October 23rd 2021

Early Results of Gene Therapy for Angelman Syndrome Look Promising

AJMC Staff
Angelman syndrome affects roughly 1 in every 20,000 children and it has no approved treatment.
graphic of health care cost image
October 22nd 2021

Health Care Costs for Patients With Rare Disease Greater Than Previously Estimated

AJMC Staff
Health care costs are 3 to 5 times greater for people with rare diseases compared with those without, according to a new study.
FDA Clears Thymus Tissue Product to Treat Congenital Athymia
October 11th 2021

FDA Clears Thymus Tissue Product to Treat Congenital Athymia

AJMC Staff
The product, called Rethymic, is composed of human allogeneic thymus tissue that is processed and cultured and then implanted into children born without a thymus to help reconstitute immunity.
Scale comparison
October 6th 2021

Ruxolitinib Has Cost-effectiveness, Survival Benefits for Myelofibrosis vs Competitors

Maggie L. Shaw
Research presented at EHA2021 shows that the JAK 1/2 inhibitor ruxolitinib produced cost-effective benefits per quality-adjusted life-year and increased the overall survival rate for patients with myelofibrosis.
Doctor discussing with patient
October 3rd 2021

Management of Low-risk ET and PV Has Room for Improvement

Rose McNulty
Despite excellent prognoses in low-risk patients with essential thrombocytopenia (ET) and polycythemia vera (PV), knowledge gaps remain and novel, more tolerable therapies require reevaluation of treatment algorithms.
Doctor working on gene therapy
October 1st 2021

Pediatric AADC Deficiency Improves With New Gene Therapy

Maggie L. Shaw
This new analysis of 5-year data on a novel gene therapy from PTC Therapeutics shows both cognitive and motor function improvement in children with aromatic L-amino acid decarboxylase (AADC) deficiency, a rare central nervous system disorder.
Sleep person
September 26th 2021

Researchers Detail Case of Statin-Induced Necrotizing Myositis

Jaime Rosenberg
Immune-mediated necrotizing myopathy typically presents with progressive symmetrical proximal muscle weakness and myalgias, although some cases can present with respiratory and esophageal muscle weakness, as seen in this reported case study.
FDA Approves Ruxolitinib for Chronic GVHD
September 22nd 2021

FDA Approves Ruxolitinib for Chronic GVHD

AJMC Staff
Chronic graft-vs-host disease (GVHD) is a condition that can occur after an allogeneic stem cell transplant in which the donated cells initiate an immune response and attack the transplant recipient’s organs.
Blood in test tubes
September 21st 2021

Ruxolitinib Likely Safe, Effective in Chronic GVHD

Jaime Rosenberg
The study of 36 patients showed a response rate of 59% at 3 months, which increased to 62% at 6 months.
Tubes of blood for testing
September 18th 2021

JAK Inhibitor Treatment in Myelofibrosis May Depend on Treatment Line, Risk of AEs

Jaime Rosenberg
The data offer novel insights, as comparable data on the drug class is scarce despite 2 JAK inhibitors being approved for use in myelofibrosis and others showing promise.
Brain illustration
September 18th 2021

Managing Cerebrovascular Complications in Patients With MPN

Jaime Rosenberg
Complications of note in patients with myeloproliferative neoplasm (MPNs) include ischemic stroke, intracerebral and subarachnoid hemorrhage, microbleeds, posterior reversible encephalopathy syndrome, and dural sinus and cerebral vein thrombosis.
Prescription costs
September 11th 2021

Multistakeholder Panel Weighs In on Which Factors to Consider for Reimbursement of Orphan Drugs

Jaime Rosenberg
From the decision analysis came an agreement that reimbursement for an orphan drug should be based primarily on its effect on health-related quality of life, its effectiveness, and the availability of other treatment options.
Moderna Donates mRNA Therapy for Rare Disease to Nonprofit
September 10th 2021

Moderna Donates mRNA Therapy for Rare Disease to Nonprofit

AJMC Staff
Crigler-Najjar Syndrome Type 1 is an ultra-rare disease where treatment relies on a liver transplant or full-day phototherapy sessions.
caregivers
September 4th 2021

Family Caregivers of Patients With Gaucher Disease Report Lower Quality-of-Life Scores

Mary Caffrey
Gaucher disease is a rare metabolic condition that causes a fatty substance to build up in the organs and bones. Patients can suffer liver enlargement, anemia, and reduced platelets; they experience fatigue, bone infarctions, and permanent disability or death.
Study Shows Promise of Ruxolitinib in Children With Steroid-Refractory GVHD
September 3rd 2021

Study Shows Promise of Ruxolitinib in Children With Steroid-Refractory GVHD

Jaime Rosenberg
Most studies to date that show efficacy with ruxolitinib in this setting have been in adult patients.
Caregivers hug.
August 25th 2021

Patients, Caregivers Report Lack of Supportive Services for Inherited Metabolic Diseases

Jaime Rosenberg
The European-based survey collected information from over 900 patients and caregivers from 25 countries; the responses show a need for both local and national governments to scale up their services for patients with rare metabolic diseases, which also have a positive spillover effects for caregivers.
Pediatrician chekcing on his patient
August 21st 2021

Using Ruxolitinib to Target JAK1/2 in T-LBL May Prevent Treatment Resistance

Maggie L. Shaw
For pediatric patients with T-cell origin lymphoblastic leukemia (T-LBL) with disease progression following second-line treatment, investigators found that the JAK1/2 pathway may be a new actionable target through treatment with ruxolitinib.
Doctor reading report
August 18th 2021

Case Study Highlights Polycythemia Vera, Pure Erythroid Leukemia Connection

Jaime Rosenberg
Few cases have documented how myeloproliferative neoplasms, such as polycythemia vera, progress to pure erythroid leukemia, with just 5 such cases reported between 1952 and 1962.
pills and syringe graphic
August 14th 2021

Ruxolitinib, Venetoclax Combo Delays Disease Progression in Case Report of BCR-JAK2 Rearranged Myeloid Neoplasm

Jaime Rosenberg
The combination delayed disease progression for a year and a half, suggesting the treatments may be a viable option for patients not eligible for allogeneic stem cell transplantation.
calculator
August 11th 2021

Survey: Parents Cite Insurance Headaches, Knowledge Barriers Around Rare Disease Management

Gianna Melillo
Survey results underscore parents’ frustration with insurers when it comes to caring for their children with rare diseases.
Caduceus health care symbol.
August 7th 2021

Novel Enzyme Replacement Therapy Gains FDA Approval in Pompe Disease

Matthew Gavidia
FDA approves avalglucosidase alfa-ngpt (Nexviazyme) for the treatment of patients 1 year and older with late-onset Pompe disease.
Neon-enhanced nerve graphic
August 6th 2021

Study Estimates Prevalence of PSP, Highlights Suggestive Symptoms Prior to Diagnosis

Jaime Rosenberg
According to researchers, the prevalence of progressive supranuclear palsy (PSP) identified by their study is consistent with, but on the lower end, of previously reported estimates.
Smoking a cigarette
July 30th 2021

Smoking Affects Symptom Prevalence, Severity in Patients With MPN, Study Finds

Jaime Rosenberg
The study included more than 400 patients with Philadelphia-negative MPNs, all of whom completed a questionnaire related to their tobacco use and symptoms related to their disease.
Reactivation of Hepatitis B After Ruxolitinib for MPN Hinges on Antivirals
July 24th 2021

Reactivation of Hepatitis B After Ruxolitinib for MPN Hinges on Antivirals

AJMC Staff
The issue of reactivating hepatitis B and other chronic viruses such as herpes zoster after treatment for myeloproliferative neoplasms (MPN) is an emerging issue in hematologic malignancies, due to the power of newer therapies.
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