Rare Disease

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

February 28th 2025

Several rare disease patient populations received their first-ever FDA-approved drug since Rare Disease Day last year, signifying progress in closing treatment gaps for rare disease.

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

February 12th 2025

Gene therapy, gene editing concept | image credit: vchalup - stock.adobe.com
Delandistrogene Moxeparvovec Fails to Meet Primary End Point in Phase 3 Study

November 15th 2024

Patients with SMA and their caregivers stand to benefit from shared decision-making processes | image credit: Intelligent Horizons - stock.adobe.com
Shared Decision-Making Is Essential Prior to SMA-Enhancing Treatments

November 8th 2024

SMA type is a strong predictor of some oral functioning in affected patients | image credit: RTimages - stock.adobe.com
Oral Function Impairment Varies Across Adult Patients With SMA

October 28th 2024

More News

Real-World Data Shows Substantial Burden of Cost, AEs for Patients With MCL
December 7th 2019

Real-World Data Shows Substantial Burden of Cost, AEs for Patients With MCL

Laura Joszt, MA
Patients with mantle cell lymphoma (MCL) face a substantial economic burden and susceptibility to adverse events (AEs) in the real world, according to an abstract presented at the 61st American Society of Hematology Annual Meeting and Exposition.
Improvements in Survival for Patients With Severe Acute or Severe Chronic GVHD
December 1st 2019

Improvements in Survival for Patients With Severe Acute or Severe Chronic GVHD

Laura Joszt, MA
Historically, patients with severe acute graft-versus-host disease (GVHD) and severe chronic GVHD as determined by the National Institutes of Health have poor survival. New research being presented at the 61st American Society of Hematology Annual Meeting & Exposition shows that earlier treatment with novel therapies can improve outcomes for these patients.
First-Line Use of Ruxolitinib and Dosing Modifications in Patients With Polycythemia Vera
November 29th 2019

First-Line Use of Ruxolitinib and Dosing Modifications in Patients With Polycythemia Vera

Laura Joszt, MA
There are no cures available to patients with polycythemia vera (PV), who are first treated with hydroxyurea (HU); ruxolitinib is approved as a second-line therapy in both Europe and the United States for patients who are intolerant of or resistant to HU. Two abstracts being presented at the 61st American Society of Hematology Annual Meeting & Exposition explore the use of ruxolitinib in patients with PV, either in patients who first tried HU or had ruxolitinib as a first-line therapy.
Payers Slow to Adopt Real-World Evidence in Rare Diseases
November 26th 2019

Payers Slow to Adopt Real-World Evidence in Rare Diseases

Laura Joszt, MA
While there is an increased interest in using real-world evidence (RWE) to design, test, and review rare disease treatments, payers may not be as receptive to using RWE when making reimbursement and formulary decisions, according to a new report from Syneos Health.
Dr David Snyder on When to Add Ruxolitinib to Treat GVHD
November 17th 2019

Dr David Snyder on When to Add Ruxolitinib to Treat GVHD

Ruxolitinib should be added to treatment of patients with graft-versus-host disease (GVHD) are not improving on steroids or whose symptoms return after tapering, said David Snyder, MD, associate chair of the Department of Hematology & Hematopoietic Cell Transplantation at City of Hope.
FDA Approves First Treatment for Rare Blood Disorder, Beta Thalassemia
November 15th 2019

FDA Approves First Treatment for Rare Blood Disorder, Beta Thalassemia

Laura Joszt, MA
Adult patients with beta thalassemia will now have an FDA-approved treatment available with luspatercept-aamt (Reblozyl). The therapy treats the rare inherited blood disorder, which requires patients to have regular red blood cell transfusions.
Dr Prithviraj Bose on Treating Progression in Myelofibrosis
November 14th 2019

Dr Prithviraj Bose on Treating Progression in Myelofibrosis

Prithviraj Bose, MD, of MD Anderson Cancer Center discusses treatment options for patients progressing with myelofibrosis.
Dr David Snyder on Responses to Ruxolitinib in Patients With Acute GVHD
November 7th 2019

Dr David Snyder on Responses to Ruxolitinib in Patients With Acute GVHD

A majority of patients with acute graft-versus-host disease (GVHD), but not all, have significant responses to the addition of ruxolitinib, said David Snyder, MD, associate chair of the Department of Hematology & Hematopoietic Cell Transplantation at City of Hope.
Not So Rare: 300 Million People Worldwide Affected by Rare Diseases
November 7th 2019

Not So Rare: 300 Million People Worldwide Affected by Rare Diseases

Laura Joszt, MA
Approximately 4% of the total world population is affected by a rare disease at any given time, according to new research on 3585 rare diseases.
Dr Prithviraj Bose Discusses Special Considerations for Use of JAK Inhibitors in Myelofibrosis
November 1st 2019

Dr Prithviraj Bose Discusses Special Considerations for Use of JAK Inhibitors in Myelofibrosis

Prithviraj Bose, MD, of MD Anderson Cancer Center discusses the risk of patients being treated with JAK inhibitors developing non-Hodgkin lymphoma.
Top 5 AJMC® Articles of October 2019
November 1st 2019

Top 5 AJMC® Articles of October 2019

Here are the top 5 articles for the month of October.
Orphan Drug May Be Frequently Used Off-Label, Inflating Revenue, Letter Suggests
November 1st 2019

Orphan Drug May Be Frequently Used Off-Label, Inflating Revenue, Letter Suggests

Laura Joszt, MA
Although eculizumab is only approved by the FDA to treat 3 rare indications, the high and increasing net sales for the drug have raised concerns about off-label use, according to a research letter in JAMA Internal Medicine.
Dr Naveen Pemmaraju: PCPs Play an Important Role Treating Myelofibrosis
October 29th 2019

Dr Naveen Pemmaraju: PCPs Play an Important Role Treating Myelofibrosis

The local community doctor has an important role in recognizing, diagnosing, and managing myelofibrosis, said Naveen Pemmaraju, MD, associate professor in the Department of Leukemia at MD Anderson Cancer Center.
Dr David Snyder Discusses Treating GVHD, the Differences Between Chronic and Acute GVHD
October 25th 2019

Dr David Snyder Discusses Treating GVHD, the Differences Between Chronic and Acute GVHD

Ruxolitinib was recently approved to treat acute graft-versus-host disease (GVHD), and trials are ongoing to understand the best way to use the treatment with transplantation, said David Snyder, MD, associate chair of the Department of Hematology & Hematopoietic Cell Transplantation at City of Hope.
What We're Reading: Healthcare at Center of Democrats' Debate; Opioid Settlement Talks; Alexion Buying Achillion
October 16th 2019

What We're Reading: Healthcare at Center of Democrats' Debate; Opioid Settlement Talks; Alexion Buying Achillion

AJMC Staff
The 12 Democratic candidates for president spent a good deal of time at their debate Tuesday night discussing healthcare; a group of state attorneys general tried to convince a US District Court judge to give them more time to create a settlement in their opioid lawsuits but failed; Alexion Pharmaceuticals agreed to buy small biotech Achillion Pharmaceuticals in a deal initially valued at $930 million.
Analysis Highlights How Rare Diseases Have Broader Fiscal Impact Than Health Costs
October 16th 2019

Analysis Highlights How Rare Diseases Have Broader Fiscal Impact Than Health Costs

Laura Joszt, MA
Rare diseases may affect a small number of people, but they have fiscal impacts beyond just healthcare costs. A new study in Orphanet Journal of Rare Diseases used a public economic framework to identify how hereditary transthyretin-mediated amyloidosis has a public economic burden beyond just health costs in the Netherlands.
Dr Prithviraj Bose Discusses Identifying Progression in Myelofibrosis
October 14th 2019

Dr Prithviraj Bose Discusses Identifying Progression in Myelofibrosis

There are formal criteria to identify progression in myelofibrosis, but patients can progress in many different ways, said Prithviraj Bose, MD, of MD Anderson Cancer Center.
Phase 2 Trial Produces Promising Results for Pemigatinib in Cholangiocarcinoma
October 8th 2019

Phase 2 Trial Produces Promising Results for Pemigatinib in Cholangiocarcinoma

Jaime Rosenberg
If approved, pemigatinib would be the first targeted therapy for patients with cholangiocarcinoma, a rare cancer that impacts the bile ducts. The disease is often diagnosed at a late or advanced stage.
Dr David Snyder Outlines Use of Ruxolitinib After Approval of Fedratinib
October 8th 2019

Dr David Snyder Outlines Use of Ruxolitinib After Approval of Fedratinib

After the approval of fedratinib, familiarity may keep people using ruxolitinib to treat myelofibrosis or polycythemia vera, but it’s good to know there is a back-up if needed for patients who don’t respond adequately, said David Snyder, MD, associate chair of the Department of Hematology & Hematopoietic Cell Transplantation at City of Hope.
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October 8th 2019

Variation in US Private Health Plans’ Coverage of Orphan Drugs

James D. Chambers, PhD Ari D. Panzer, BS David D. Kim, PhD Nikoletta M. Margaretos, BA Peter J. Neumann, ScD
Health plans restrict orphan drug coverage less often than nonorphan drug coverage. However, the frequency of restrictions varies considerably across plans.
Dr Naveen Pemmaraju Outlines the Symptoms of Myelofibrosis
October 5th 2019

Dr Naveen Pemmaraju Outlines the Symptoms of Myelofibrosis

Myelofibrosis has a very heterogeneous disease presentation, which means patients with it can present to the clinic with a number of different symptoms, explained Naveen Pemmaraju, MD, associate professor in the Department of Leukemia at MD Anderson Cancer Center.
Dr Scott Gottlieb: Reimbursement Models Play a Vital Role in the Development of Orphan Indications
September 27th 2019

Dr Scott Gottlieb: Reimbursement Models Play a Vital Role in the Development of Orphan Indications

The development and access to orphan indications rely on reimbursement models that require regulatory action toward out-of-pocket costs for patients, said Scott Gottlieb, MD, former FDA commissioner (2017-2019).
40-Year-Old RA Drug May Be Low-Cost Option for Patients With Myeloproliferative Neoplasms
September 18th 2019

40-Year-Old RA Drug May Be Low-Cost Option for Patients With Myeloproliferative Neoplasms

Laura Joszt, MA
Patients with polycythemia vera and essential thrombocythemia may be able to reduce their symptoms through a low-cost drug used to treat rheumatoid arthritis (RA), according to a new study in British Journal of Haematology.
Dr Ahmar Zaidi: How Social Determinants Could Limit Access to Gene Therapy for Sickle Cell
September 17th 2019

Dr Ahmar Zaidi: How Social Determinants Could Limit Access to Gene Therapy for Sickle Cell

The only thing that should matter in these patients is their genetic code, but often it’s your zip code that really restrains your ability to access the healthcare you deserve, explained Ahmar Zaidi, MD, pediatric hematologist-oncologist, Comprehensive Sickle Cell Center, Children's Hospital of Michigan, when discussing the possibility of a gene therapy for sickle cell.
Orphan Drugs Are Driving Skyrocketing Drug Costs, AHIP Finds
September 12th 2019

Orphan Drugs Are Driving Skyrocketing Drug Costs, AHIP Finds

Laura Joszt, MA
As orphan drugs account for an increasing share of drugs approved, they are driving up the cost of drug launches and drug prices. In a new paper, America's Health Insurance Plans analyzes these rising costs and the use of orphan drugs and asserts that policy makers need to revisit the Orphan Drug Act.
FDA OKs First Treatment for Rare Lung Disease
September 9th 2019

FDA OKs First Treatment for Rare Lung Disease

Jaime Rosenberg
The agency has approved nintedanib (Ofev) to slow the rate of pulmonary function decline in adult patients with interstitial lung disease associated with systemic sclerosis or scleroderma.
Dr Neil Minkoff on Hopes, Payer Reactions If a Gene Therapy Is Approved for Sickle Cell Disease
September 6th 2019

Dr Neil Minkoff on Hopes, Payer Reactions If a Gene Therapy Is Approved for Sickle Cell Disease

Neil Minkoff, MD, chief medical officer and vice president, EmpiraMed, discusses his hopes if the first gene therapy for sickle cell disease is approved and if he has any concerns with payer reactions.
Study Affirms Safety, Efficacy of Ruxolitinib in Patients With PV Resistant or Intolerant to Hydroxyurea
September 6th 2019

Study Affirms Safety, Efficacy of Ruxolitinib in Patients With PV Resistant or Intolerant to Hydroxyurea

Laura Joszt, MA
An Expanded Treatment Protocol study that provided expanded access of the FDA-approved ruxolitinib, which treats polycythemia vera (PV) in patients who are intolerant or resistant to hydoxyurea, affirmed the safety and efficacy findings of the trials used for approval.
Dr Ahmar Zaidi on Efforts Needed to Address Complications of Sickle Cell Disease
August 29th 2019

Dr Ahmar Zaidi on Efforts Needed to Address Complications of Sickle Cell Disease

Ahmar Zaidi, MD, pediatric hematologist-oncologist, Comprehensive Sickle Cell Center, Children's Hospital of Michigan, discusses the need for more efforts from both the medical community and regulators to address the psychosocial complications of sickle cell disease.
Neurofibromatosis Type 1 Research Explores Patient Experiences With Pain
August 27th 2019

Neurofibromatosis Type 1 Research Explores Patient Experiences With Pain

Allison Inserro
Other than surgery and medications, including opioids, there are few options for treating pain symptoms, which affect more than half of all patients with neurofibromatosis type 1.
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