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

Increased WBC Count Linked With Thrombotic Events in Patients With PV
January 5th 2020

Increased WBC Count Linked With Thrombotic Events in Patients With PV

AJMC Staff
Thrombotic events are a significant cause of morbidity and mortality for patients with polycythemia vera (PV), and previous reports have shown a significant correlation between elevated white blood cell (WBC) count and thrombotic events. A recently published study among patients treated in the US Veterans Health Administration (VHA) has now substantiated those findings, suggesting that controlling WBC count should be an important facet of managing PV.
Splenomegaly Linked With Thrombosis, Cardiovascular Risk for Patients With ET and PV
January 2nd 2020

Splenomegaly Linked With Thrombosis, Cardiovascular Risk for Patients With ET and PV

Kelly Davio
Splenomegaly, or enlargement of the spleen, is common in patients with Philadelphia-negative myeloproliferative neoplasms, and it is associated with symptoms like early satiety and abdominal pain. The role that splenomegaly has in terms of quality of life and prognosis in primary myelofibrosis is fairly well understood, but it has been less frequently investigated among patients with essential thrombocythemia (ET) and polycythemia vera (PV).
Dr Ruben Mesa Discusses Better Understanding Symptoms in MPNs
December 29th 2019

Dr Ruben Mesa Discusses Better Understanding Symptoms in MPNs

Symptoms are not random chance—they have a real link to biological drivers of the disease and understanding them is important, said Ruben Mesa, MD, director of UT Health San Antonio MD Anderson Cancer Center.
What We're Reading: Novartis Therapy Lottery; Merck Ebola Vaccine Approval; California Cannabis Use
December 20th 2019

What We're Reading: Novartis Therapy Lottery; Merck Ebola Vaccine Approval; California Cannabis Use

AJMC Staff
Novartis hopes to distribute Zolgensma, its pricey spinal muscular atrophy drug, via lottery; Merck receives FDA approval for its Ebola vaccine, Ervebo; a new law in California hopes to resurrect compassionate use cannabis programs.
Dr Michael Wang on Finding Chemo-Free Therapies for Mantle Cell Lymphoma
December 17th 2019

Dr Michael Wang on Finding Chemo-Free Therapies for Mantle Cell Lymphoma

To avoid the toxicities associated with use of chemotherapy, there has been progress in developing and utilizing chemotherapy-free therapies to treat mantle cell lymphoma, said Michael Wang, MD, professor in the Department of Lymphoma and Myeloma at MD Anderson.
Disease Burden and Adherence for Patients With Myelofibrosis
December 17th 2019

Disease Burden and Adherence for Patients With Myelofibrosis

Laura Joszt, MA
Disease burden is substantial for patients with myelofibrosis, even those with intermediate risk, and a not insubstantial percentage of patients have low or intermediate adherence during treatment, according to 2 abstracts from an Italian clinical trial presented at the 61st American Society of Hematology Annual Meeting & Exposition.
What We're Reading: Pelosi Drug Bill; Sarepta's Second Chance; Mental Health Care
December 13th 2019

What We're Reading: Pelosi Drug Bill; Sarepta's Second Chance; Mental Health Care

AJMC Staff
Speaker Nancy Pelosi’s, D-California, drug bill passes in the House; the FDA approves Vyondys 53, from Sarepta Therapeutics, to treat Duchenne muscular dystrophy; San Francisco tackles homelessness, mental illness, and substance abuse.
Genetic Variant Causing Heart Failure in Patients of African Descent Largely Goes Undiagnosed
December 12th 2019

Genetic Variant Causing Heart Failure in Patients of African Descent Largely Goes Undiagnosed

Laura Joszt, MA
Hereditary transthyretin amyloid cardiomyopathy, which is caused by a genetic variant significantly associated with heart failure in individuals of African descent, is underdiagnosed, according to a new study published in JAMA.
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).
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