Rare Disease

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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

Children with spinal muscular atrophy (SMA) showed motor function improvements after switching to onasemnogene abeparvovec following prior treatment with nusinersen or risdiplam in a real-world study.

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

RAre disease ribbon-Chinnapong-stock.adobe.com

5 Rare Diseases That Now Have Their First FDA-Approved Treatments

By Giuliana Grossi

February 28th 2025

FDA approved. | Image Credit: Pawel - stock.adobe.com

FDA Approves Mirdametinib for Neurofibromatosis Type 1 With Plexiform Neurofibromas

By Giuliana Grossi

February 12th 2025

More News

March 22nd 2017

What We're Reading: Orphan Drug Investigation; Infant Deaths; Reduced Smoking Rates

March 17th 2017

NORD Comes Out Against Bill Providing Employer Insight Into Employee Genetic Information

Laura Joszt, MA

The National Organization for Rare Disorders (NORD) has come out strongly against a bill that would provide employers with insight into workers’ personal medical and genetic information.

March 16th 2017

A Framework for Assessing the Value of Rare Disease Treatments

Laura Joszt, MA

Difficulty in making pricing and reimbursement decisions for rare diseases has prevented patients from having universal access to new medicines despite increased investment in their research and development. In Europe, a group has proposed 9 principles to guide value assessment, pricing, and funding.

March 14th 2017

Cystic Fibrosis Survival in US Lags 10 Years Behind Canada, Researchers Find

Christina Mattina

A concerning new study has found a significant gap in survival for cystic fibrosis patients in the United States and Canada. The 10-year advantage observed in Canadian patients could partially be explained by disparities in the countries’ healthcare systems, the researchers suggested.

March 10th 2017

Imatinib Safe and Effective on Long-Term Use in CML

Surabhi Dangi-Garimella, PhD

The selective BCR-ABL1 kinase inhibitor imatinib mesylate (Gleevec) has been found to be safe and effective following almost 11 years of follow-up in patients with chronic myeloid leukemia.

March 6th 2017

Remuneration for Gene Therapy Treatments: ICER Provides Early Recommendations

Surabhi Dangi-Garimella, PhD

How will drug developers price gene therapy treatments to recover their investment and ensure that society can bear the impending cost?

March 6th 2017

Orphan Drug Market to Continue Steady Growth; Sales to Double Between 2016 and 2022

Laura Joszt, MA

The orphan drug market continues its steady and inexorable growth even with increased scrutiny on the high prices of these lifesaving treatments.

March 2nd 2017

Juno's ROCKET Trial, Evaluating CAR-T Treatment in Leukemia Patients, Shelved

Surabhi Dangi-Garimella, PhD

The company did not recover from the 5 patient deaths associated with JCAR015 in 2016.

February 28th 2017

Raising Awareness of Rare Diseases and the Need for More Research

The National Organization for Rare Disorders has announced a new, yearlong campaign to raise public awareness of rare diseases. “Do Your Share for Rare” shines a light on people living with a rare disease and provides an opportunity for them to share their story.

February 23rd 2017

Lenalidomide Approved as Maintenance for Multiple Myeloma Following Transplant

The FDA has approved lenalidomide as maintenance therapy in patients with multiple myeloma following autologous stem cell transplant.

February 21st 2017

Survey Finds Varied Views on Value of Multiple Sclerosis Therapies

Population-level judgements on the value of therapies to treat multiple sclerosis don’t adequately depict the differences between how providers and payers view value compared with patients and how patients view value different from one another.

February 16th 2017

Experimental Treatment Induces Remission in Multiple Sclerosis

Laura Joszt, MA

A new treatment option using stem cell transplants was shown to induce sustained remission of relapsing-remitting multiple sclerosis (MS). More than two-thirds of participants had no signs of progression of disability, relapse of MS symptoms, or new brain lesions after 5 years.

February 13th 2017

Predicting Response to SCT in Patients With MDS

Surabhi Dangi-Garimella, PhD

A new study has identified key mutations that can direct the conditioning regimen prior to an allogenic hematopoietic stem cell transplant (SCT) in patients with myelodysplastic syndrome (MDS), leading to a better response.

February 13th 2017

What We're Reading: DMD Drug Gets $89K Price Tag; Necessary Drug Price Hikes; and ACA Taxes

February 11th 2017

Cutting-Edge Institute to Advance Rare Disease Care, Research

Christina Mattina

Children’s National Health System has announced the formation of the Children’s National Rare Disease Institute to advance the care of children and adults with rare genetic diseases.

February 6th 2017

Encouraging Results for New Strategy to Treat Juvenile Batten Disease

Laura Joszt, MA

A treatment for juvenile Batten disease has been tested in a mouse model and the results have shown reduced in symptoms and improved longevity. The results of the study were published in Nature Communications.

February 3rd 2017

Reports Highlight Special Needs Children as Congress Weighs Medicaid Changes

Reports explain that plans for Medicaid block grants or per capita caps overlook who really uses Medicaid. It's mostly children.

February 2nd 2017

Analysis Finds Alemtuzumab Most Cost-Effective Treatment for Multiple Sclerosis

Laura Joszt, MA

A review of 15 disease-modifying therapies (DMTs) for the treatment of relapsing-remitting and primary-progressive multiple sclerosis (MS) has found that prices for most of these drugs are not well-aligned with added value for patients.

February 1st 2017

What We're Reading: Aetna's ACA Future, Teva Loses MS Patent, and Hawaii Saves Parts of ACA

January 27th 2017

NICE Endorses Funding for Ibrutinib in Patients With CLL

Patients who have had at least 1 prior therapy or carry a 17p deletion or TP53 mutation are now eligible to be treated with ibrutinib (Imbruvica) in the United Kingdom.

January 27th 2017

What We're Reading: Orphan Drugs, ACA Ads Canceled, and Burwell to Lead American University

A roundup of top healthcare news stories: January 27, 2017.

January 26th 2017

First Trial With Universal CAR-T Treatment in Pediatric Leukemia Reports Success

Surabhi Dangi-Garimella, PhD

“Off-the-shelf” chimeric antigen receptor (CAR)-T cells, also known as universal donor cells, were used in 2 young infants with relapsed, refractory acute lymphoblastic leukemia resulted in molecular remission in 28 days in both infants.

January 26th 2017

New Target for Treating Glioblastoma May Increase Survival Time

Researchers from the Peter O’Donnell Jr. Brain Institute and Harold C. Simmons Comprehensive Cancer Center at the University of Texas Southwestern may have found the ultimate drivers of glioblastoma cell proliferation.

January 25th 2017

Innovative Approach to Precision Trial Design: NCI-MATCH and Beat AML

Surabhi Dangi-Garimella, PhD

At the 58th annual meeting of the 58th American Society of Hematology, representatives from 2 national clinical trials, Beat AML and NCI-MATCH, detailed how they were incorporating genomic profiling to assign patients to different treatment arms.

January 25th 2017

Healthcare Utilization and Costs Associated With the Treatment of Relapsed/Refractory MM

Surabhi Dangi-Garimella, PhD

A poster presented at the 58th Annual Meeting & Exposition of the American Society of Hematology compared the utilization patterns and associated costs for recently approved and older drugs in patients with relapsed/refractory multiple myeloma in the United States.

January 18th 2017

Rare Disease Information Websites Vary in Quality, Study Finds

Christina Mattina

Patients with rare diseases often turn to the Internet for information on their illness, but an analysis of some of these websites found that their content often failed to meet important quality criteria and neglected key information categories.

January 18th 2017

Prior Ibrutinib Treatment Improves CAR T-Cell Expansion, Could Impact Response in CLL

Surabhi Dangi-Garimella, PhD

The improved expansion of chimeric antigen receptor (CAR) T-cells indicates a deeper clinical response.

January 18th 2017

RESONATE-2 Continues to Impress With Single-Agent Ibrutinib for CLL/SLL at 29 Months

Surabhi Dangi-Garimella, PhD

Despite the complexities associated with treating older patients diagnosed with chronic lymphocytic leukemia (CLL) and small lymphocytic lymphoma (SLL), patients in the RESONATE-2 trial continue to present a favorable response to single-agent ibrutinib at a follow-up of 29 months.

January 17th 2017

Nearly Half of New Drugs Approved in 2016 Were Orphan Drugs

Laura Joszt, MA

Among the 9 new orphan drugs approved by the FDA in 2016 were 3 treatments for rare diseases that, so far, had no approved treatments: Duchenne muscular dystrophy, spinal muscular atrophy, and severe hepatic veno-occlusive disease.

January 16th 2017

The Value of Survival Gains in Myelodysplastic Syndromes

Joanna P. MacEwan, PhD Wes Yin, PhD Satyin Kaura, MSci, MBA Zeba M. Khan, PhD

This study measured the value of survival gains attributable to the introduction of 3 novel therapies for myelodysplastic syndromes.

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