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

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

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

FDA approved. | Image Credit: Pawel - stock.adobe.com
FDA Approves Mirdametinib for Neurofibromatosis Type 1 With Plexiform Neurofibromas

February 12th 2025

More News

Knowledge Among Payers and Payer Requirements for Rare Disease
June 17th 2019

Knowledge Among Payers and Payer Requirements for Rare Disease

ENDEAR Study, Patient Factors, and Drug Approval Criteria
June 17th 2019

ENDEAR Study, Patient Factors, and Drug Approval Criteria

Approval of Nusinersen for SMA
June 17th 2019

Approval of Nusinersen for SMA

Treatment Goals and Multidisciplinary Management of SMA
June 17th 2019

Treatment Goals and Multidisciplinary Management of SMA

Economic Burden and Challenges of Trial of SMA
June 17th 2019

Economic Burden and Challenges of Trial of SMA

Diagnostic Tests and Scales of SMA
June 17th 2019

Diagnostic Tests and Scales of SMA

Prior Authorization and Payer Test Coverage of SMA
June 17th 2019

Prior Authorization and Payer Test Coverage of SMA

Payer Diagnostic Criteria and Prior Authorization of SMA
June 17th 2019

Payer Diagnostic Criteria and Prior Authorization of SMA

Patient Perspective and Payer Perspective of SMA
June 17th 2019

Patient Perspective and Payer Perspective of SMA

Spinal Muscular Atrophy (SMA) and Types of SMA
June 17th 2019

Spinal Muscular Atrophy (SMA) and Types of SMA

Defining Rare Diseases and Orphan Drug Act
June 17th 2019

Defining Rare Diseases and Orphan Drug Act

Emerging Treatment Options for Huntington Disease
June 17th 2019

Emerging Treatment Options for Huntington Disease

Treatment Plan With Symptomatic Care and Patient Education
June 17th 2019

Treatment Plan With Symptomatic Care and Patient Education

Economic Burden and Education on Huntington
June 17th 2019

Economic Burden and Education on Huntington

Genetic Testing and the Moral Dilemma of Testing
June 17th 2019

Genetic Testing and the Moral Dilemma of Testing

Overview of Huntington Disease
June 17th 2019

Overview of Huntington Disease

Attending to Psychosocial Concerns for Those With Epidermolysis Bullosa
June 14th 2019

Attending to Psychosocial Concerns for Those With Epidermolysis Bullosa

AJMC Staff
A recent literature review, involving an international multidisciplinary panel of social and healthcare professionals and people living with epidermolysis bullosa (EB), was conducted to create evidence-based guidelines to optimize psychosocial well-being in EB, given that there is no cure or treatment.
What We're Reading: Expanding HRAs; NY Ends Religious Exemptions for Vaccines; Orphan Drug Approval Lawsuit
June 14th 2019

What We're Reading: Expanding HRAs; NY Ends Religious Exemptions for Vaccines; Orphan Drug Approval Lawsuit

AJMC Staff
Starting 2020, employees will be able to use health reimbursement arrangements (HRAs) to purchase individual coverage; New York has enacted legislation that ends nonmedical exemptions for school vaccination requirements; the FDA is being sued by Catalyst Pharmaceuticals over its approval of a similar orphan drug.
Paul Melmeyer on Willingness to Pay for High Cost of Rare Disease Therapies Among Stakeholders
June 10th 2019

Paul Melmeyer on Willingness to Pay for High Cost of Rare Disease Therapies Among Stakeholders

There is generally a greater willingness to pay among just about everybody for rare disease therapies, explained Paul Melmeyer, director of Federal Policy, National Organization for Rare Disorders.
Frequency, Severity of Sickle Cell Crises Linked to Productivity Losses at Work
June 8th 2019

Frequency, Severity of Sickle Cell Crises Linked to Productivity Losses at Work

Allison Inserro
A recent study found that patients with sickle cell who had more frequent or severe vaso-occlusive crises (VOCs) had greater absenteeism, overall productivity loss, and activity impairment than patients with less frequent or severe VOCs.
Ruxolitinib as Maintenance Therapy Following Allogeneic SCT Is Safe, Tolerable in Myelofibrosis
June 5th 2019

Ruxolitinib as Maintenance Therapy Following Allogeneic SCT Is Safe, Tolerable in Myelofibrosis

Jaime Rosenberg
A pilot study is suggesting that ruxolitinib is safe and tolerable as maintenance therapy following allogeneic stem cell transplantation.
Paul Melmeyer on How Therapies for Rare Diseases Present Challenges to Value Assessment
May 29th 2019

Paul Melmeyer on How Therapies for Rare Diseases Present Challenges to Value Assessment

Therapies for rare diseases, such as gene therapy, pose very unique challenges to value assessments in a variety of different ways, explained Paul Melmeyer, director of Federal Policy, National Organization for Rare Disorders.
FDA Approves Ruxolitinib for Steroid-Refractory Acute Graft-Versus-Host Disease
May 28th 2019

FDA Approves Ruxolitinib for Steroid-Refractory Acute Graft-Versus-Host Disease

Allison Inserro
The FDA approved ruxolitinib (Jakafi) for another indication, this time for the treatment of steroid-refractory acute graft-versus-host disease in adult and pediatric patients 12 years and older.
Only Modest Benefit Seen in Combining Ruxolitinib, Buparlisib
May 25th 2019

Only Modest Benefit Seen in Combining Ruxolitinib, Buparlisib

Allison Inserro
A study combining ruxolitinib and buparlisib in myelofibrosis showed only a modest benefit compared with ruxolitinib alone, and further studies to see if there is a synergistic effect between the 2 agents will not continue.
Dysregulated Energy Production in Stem Cells Implicated in Fanconi Anemia
May 18th 2019

Dysregulated Energy Production in Stem Cells Implicated in Fanconi Anemia

Allison Inserro
Researchers said they discovered a finding that could lead to better treatments for Fanconi anemia (FA), a rare, genetic, pediatric hematologic disorder.
Researchers Examine Metabolic Effects of Ruxolitinib
May 17th 2019

Researchers Examine Metabolic Effects of Ruxolitinib

Allison Inserro
A recent study found that treatment with a systemic JAK1/2 inhibitor was associated with weight gain, the development of obesity, and increased systolic blood pressure.
Ascending Dose Study Demonstrates Safety, Efficacy of Voxelotor in Sickle Cell Disease
May 15th 2019

Ascending Dose Study Demonstrates Safety, Efficacy of Voxelotor in Sickle Cell Disease

Jaime Rosenberg
Voxelotor, a first-in-class oral therapy, is both safe and effective in sickle cell disease, according to a phase 1/2 randomized study assessing the drug. These findings were consistent across all doses, ranging from 500 to 1000 mg.
What We're Reading: Opioid Prescription Disparities; Trump Backs Drug Import Plan; High Cost of Drugs Approved in 2018
May 10th 2019

What We're Reading: Opioid Prescription Disparities; Trump Backs Drug Import Plan; High Cost of Drugs Approved in 2018

AJMC Staff
White patients are significantly more likely to be prescribed buprenorphine compared with patients of other races/ethnicities; Trump has backed a Florida proposal to import drugs from Canada; nearly 25% of medications approved in 2018 cost more than $30,000 per year.
FDA Approves First Treatment for Pediatric Lambert-Eaton Myasthenic Syndrome
May 10th 2019

FDA Approves First Treatment for Pediatric Lambert-Eaton Myasthenic Syndrome

Jaime Rosenberg
The FDA has approved amifampridine (Ruzurgi), the first treatment for pediatric patients with Lambert-Eaton myasthenic syndrome.
Pfizer Gets FDA Approval for Tafamadis for ATTR-CM
May 7th 2019

Pfizer Gets FDA Approval for Tafamadis for ATTR-CM

Allison Inserro
The FDA approved Pfizer’s transthyretin stabilizer tafamidis, the first treatment for cardiomyopathy of wild-type or hereditary transthyretin-mediated amyloidosis (ATTR-CM), a rare, incurable disease. Pfizer will sell the oral drugs under the names Vyndaqel and Vyndamax.
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