Rare Disease

Latest News

FDA Approved | Image credit: B-design - stock.adobe.com

FDA Approves First RNA-Targeted Treatment for Hereditary Angioedema

By Julia Bonavitacola

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

By Brooke McCormick

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

By Rose McNulty

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

By Rose McNulty

August 6th 2025

Women in science | Image Credit: © metamorworks-stock.adobe.com.jpeg

5 Rare Disorders Named for Pioneering Female Scientists

By Maggie L. Shaw

May 23rd 2025

More News

June 14th 2017

A Drug Unsuccessful at Treating Cancer May Successfully Treat DMD

Alison Rodriguez

A drug previously used in an attempt to treat cancer, now has the potential to be repurposed to treat Duchenne muscular dystrophy.

June 7th 2017

Phase 1 Study Results at ASCO Support First-Line Use of Daratumumab in Multiple Myeloma

A phase 1 study, presented at the 2017 American Society of Clinical Oncology Annual Meeting, found that including daratumumab can improve patient response to treatment in newly diagnosed multiple myeloma.

June 5th 2017

Daratumumab With Standard Regimen Improves PFS in Multiple Myeloma, Independent of Cytogenetic Risk

Surabhi Dangi-Garimella, PhD

Updated results from the POLLUX and CASTOR trials, presented at the 2017 American Society of Clinical Oncology Annual Meeting, have found that including daratumumab in standard-of-care regimens prolonged progression-free survival (PFS) and improved the depth of response, independent of the patients’ cytogenetic risk.

June 2nd 2017

Cost Burden of Managing Duchenne Muscular Dystrophy and Disease Progression

Laura Joszt, MA

Healthcare costs for patients with Duchenne muscular dystrophy (DMD) are already far higher than for individuals without the disease, and a new study has found that total healthcare costs are also higher for older patients with DMD.

June 1st 2017

Overcoming Barriers to Treatment for Patients With Cystic Fibrosis

Laura Joszt, MA

Patients with cystic fibrosis face a lifetime of time-consuming treatment. There are new breakthrough therapies that not only treat symptoms of the disease, but also the underlying causes, which represents a source of hope for patients. However, barriers to treatment still stand in the way, according to a new white paper from the Cystic Fibrosis Engagement Network.

May 28th 2017

Importance of Reauthorizing PDUFA for Rare Disease Patients

Congress still has to reauthorize the Prescription Drug User Fee Act, and it can have big consequences for rare disease patients if there is a delay.

May 26th 2017

What We're Reading: Alzheimer's Deaths Up; Cannabidiol for Seizures; Insurers Await Subsidies

May 22nd 2017

Report Outlines Burden of Rare Cancers, Including Poorer Survival Rates

Christina Mattina

Although each individual rare cancer affects a small percentage of patients, the collective group of 181 rare cancers is responsible for significant disease burden in the United States.

May 18th 2017

FDA Expands Use of Kalydeco to Treat Cystic Fibrosis Caused by Rare Mutations

Christina Mattina

The FDA has expanded the approved uses of Kalydeco (ivacaftor), which is used to treat cystic fibrosis, so it can now be used by patients with any of 33 rare gene mutations.

May 17th 2017

Identifying Promising Targets to Develop Treatments for Rare Diseases

Laura Joszt, MA

A new paper in Orphanet Journal of Rare Diseases outlines a new pipeline for identifying opportunities to develop therapies for rare diseases that do not have treatments.

May 11th 2017

Survival Inequalities in Childhood Leukemia Remain Large Worldwide, Despite Progress

Laura Joszt, MA

While global inequalities for survival of childhood leukemia have narrowed, the gap remains wide for acute lymphoblastic leukemia and acute myeloid leukemia, according to a study published in The Lancet Haematology. In some countries, the 5-year survival rate is nearly twice as high as in others for children diagnosed in 2005-2009.

May 9th 2017

Avelumab Gains Accelerated Approval for Urothelial Carcinoma

The approval comes within months of avelumab being approved for the treatment of Merkel cell carcinoma.

May 9th 2017

What We're Reading: Drug Discounts for Uninsured; Life Expectancy; Duchenne Drug Price

May 4th 2017

WHO Taps Into Biosimilars for Access to Expensive Cancer Drugs in Poor Nations

Surabhi Dangi-Garimella, PhD

The World Health Organization (WHO) has announced a pilot project that will take advantage of expected savings from biosimilar medications, particularly expensive anticancer agents, to make these treatments available for low- and middle-income countries.

May 3rd 2017

PD-1 and PD-L1 Inhibitors Could Effectively Treat Advanced Sarcomas, Cancer Study Suggests

Surabhi Dangi-Garimella, PhD

Researchers have identified specific characteristics that can help identify responsiveness of patients with soft tissue sarcomas to immunotherapy.

May 1st 2017

Treatment for Rare Form of AML Is First New Drug in a Quarter Century

Surabhi Dangi-Garimella, PhD

Midostaurin (Rydapt) has been approved by the FDA, in combination with chemotherapy, for the treatment of adult patients newly diagnosed with acute myeloid leukemia (AML) with a mutation in the FLT3 gene.

April 27th 2017

Survival Significantly Lower for Children and Young Adults With Second Cancers

Laura Joszt, MA

Second primary malignant neoplasms (SPMs) are a well-known late effect after cancer, and a new study has found that they are more deadly among children and young adults than older adults.

April 24th 2017

UConn to Initiate a Personalized Vaccine Trial to Prevent Relapse in Advanced Ovarian Cancer

Surabhi Dangi-Garimella, PhD

The University of Connecticut has initiated recruitment for a phase I trial to test the safety and efficacy of OncoImmunome, a personalized vaccine designed to prevent relapse in patients diagnosed with Stage III or IV ovarian cancer.

April 20th 2017

Australian Study Details Diagnosis Delays for Children With Rare Diseases

Laura Joszt, MA

Despite the wide variety of rare diseases out there, children and families living with rare disease have one thing in common: they experience diagnostic delays. A new study in Orphanet Journal of Rare Diseases described experiences of seeking and receiving a diagnosis of a rare disease and access to healthcare.

April 18th 2017

Atezolizumab Now a First-Line Option for Cisplatin-Ineligible Patients With Advanced Bladder Cancer

Surabhi Dangi-Garimella, PhD

The approval comes following phase 2 results of 119 patients who participated in the IMvigor210 study.

Dr Aimee Tharaldson Discusses 2 New Treatments for Tardive Dyskinesia

April 12th 2017

Dr Aimee Tharaldson Discusses 2 New Treatments for Tardive Dyskinesia

The market for tardive dyskinesia, a movement disorder affecting 500,000 patients in the United States, will go from zero approved treatments to 2 in 2017, making it an important area to watch, said Aimee Tharaldson, PharmD, senior clinical consultant for emerging therapeutics at Express Scripts.

April 11th 2017

Fetal Exposure to Cigarette Smoke Causes Genetic Changes, Raises Risk of Pediatric ALL

Surabhi Dangi-Garimella, PhD

Exposure to tobacco smoke as a fetus or during early childhood can cause genetic changes that can increase a child’s risk of developing acute lymphoblastic leukemia (ALL).

April 11th 2017

Developing a Framework to Compare Outcomes of Gaucher Disease Type 1 Treatments

Researchers developed a new framework that can predict long-term outcomes of different therapeutic options for Gaucher disease type 1.

April 7th 2017

FDA to Permit Marketing of Direct-to-Consumer Tests for Genetic Health Risks

Christina Mattina

In a reversal of previous policy, the FDA has announced it will allow the genetic testing company 23andMe to market its DNA tests directly to consumers.

April 6th 2017

AACR Study Finds Shift in Cancer Burden in HIV-Positive Individuals

Surabhi Dangi-Garimella, PhD

A study presented at the annual meeting of the American Association for Cancer Research predicts a shift in the number and the pattern of cancer incidence among those infected with the human immunodeficiency virus (HIV).

April 5th 2017

FDA Approves Treatment for Huntington's Disease

Patients with chorea associated with Huntington’s disease have the first new treatment in nearly a decade. The FDA has approved Teva Pharmaceutical Industries Ltd’s Austedo (deutetrabenazine) for the treatment of chorea, which affects nearly 90% of patients with Huntington's.

Dr Aimee Tharaldson Highlights Two Key Drugs for 2017

March 28th 2017

Dr Aimee Tharaldson Highlights Two Key Drugs for 2017

The first drug to treat primary progressive multiple sclerosis and a new drug approved for atopic dermatitis are the 2017 approvals most exciting to Aimee Tharaldson, PharmD, of Express Scripts.

March 28th 2017

Analyzing the Near-Term Pipeline for Specialty Drugs

Laura Joszt, MA

The Academy of Managed Care Pharmacy Annual Meeting kicked off on March 28, 2017, in Denver, Colorado, with a look at the specialty pharmaceutical pipeline with Aimee Tharaldson, PharmD, senior clinical consultant for emerging therapeutics at Express Scripts.

March 26th 2017

Improving Orphan Drug Incentives to Address Unmet Health Needs

Laura Joszt, MA

While the orphan drug market has been growing, a new study argues that the current unmet needs of patients with rare disease proves that current incentives are not efficiently stimulating orphan drug development.

Dr Shaji Kumar: Advances and Opportunities in Treating Multiple Myeloma

March 25th 2017

Dr Shaji Kumar: Advances and Opportunities in Treating Multiple Myeloma

Despite the abundance of new drugs that have been approved recently and the promising clinical trials of other novel therapies, multiple myeloma remains incurable, explained Shaji Kumar, MD, professor of medicine at the Mayo Clinic. However, he believes that with better options for early intervention and personalized therapies, researchers are on a path to curing the disease.

...

19 20 21 22 23 24 25 26 27

...

2 Commerce Drive
Suite 100
Cranbury, NJ 08512

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

Editorial Boards

Do Not Sell My Information

Terms & Conditions