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

Lack of Effective Strategies for Myeloproliferative Neoplasms Represents Unmet Need
May 4th 2019

Lack of Effective Strategies for Myeloproliferative Neoplasms Represents Unmet Need

Allison Inserro
A recent review examined the current evidence regarding risk factors, molecular characterization, and treatment options for myeloproliferative neoplasms.
FDA Won't Ban Sale of Textured Breast Implants Tied to Rare Cancer
May 3rd 2019

FDA Won't Ban Sale of Textured Breast Implants Tied to Rare Cancer

Jaime Rosenberg
According to the FDA, there is not enough data to ban sales of textured breast implants that have been associated with a rare cancer.
Ruxolitinib Resolves Sarcoidosis in Patient With PV
April 27th 2019

Ruxolitinib Resolves Sarcoidosis in Patient With PV

AJMC Staff
Sarcoidosis has rarely been reported with polycythemia vera (PV), an acquired myeloproliferative neoplasm characterized by mutant Janus kinase 2 (JAK2) signaling leading to erythrocyte overproduction. In a recent article in the Journal of the American Academy of Dermatology, physicians report on the case of a female patient with PV and sarcoidosis.
Tagraxofusp Elicits 90% Response Rate in Patients With Rare, Aggressive Blood Cancer
April 26th 2019

Tagraxofusp Elicits 90% Response Rate in Patients With Rare, Aggressive Blood Cancer

Jaime Rosenberg
Study results demonstrated that in adult patients with blastic plasmacytoid dendritic cell neoplasm, the targeted therapy resulted in high response rates, particularly among treatment-naïve patients.
Splenectomy Before Stem Cell Transplant May Help Certain Patients With MF
April 20th 2019

Splenectomy Before Stem Cell Transplant May Help Certain Patients With MF

Allison Inserro
Splenectomy before allogeneic hematopoietic stem cell transplantation (alloHSCT) might be a promising option in patients with myelofibrosis (MF) who failed to achieve significant spleen response after ruxolitinib therapy, according to results from a recently published study.
Cytomegalovirus May Speed Disease Progression in Cystic Fibrosis
April 18th 2019

Cytomegalovirus May Speed Disease Progression in Cystic Fibrosis

Jaime Rosenberg
Patients with cystic fibrosis who had cytomegalovirus had earlier times to lung transplant referral and reaching final stages of disease.
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April 17th 2019

The PAN Foundation Opens New Carcinoid Syndrome Patient Assistance Fund

The Patient Access Network (PAN) Foundation today opened a new patient assistance program for people living with carcinoid syndrome. Carcinoid syndrome occurs when an underlying carcinoid tumor produces excessive amounts of serotonin, often due to liver metastases.
Cervical Cancer Screening Prevents Rare Types of the Disease
April 12th 2019

Cervical Cancer Screening Prevents Rare Types of the Disease

Jaime Rosenberg
Women who are screened for cervical cancer are significantly less likely to develop rare types of the cancer, especially among women who had 2 tests.
Oncologists, Hematologists Welcome CDC Clarification on Opioid Therapy for Chronic Pain
April 9th 2019

Oncologists, Hematologists Welcome CDC Clarification on Opioid Therapy for Chronic Pain

Allison Inserro
Oncologists and hematologists are welcoming a clarification from the CDC about the use of opioid pain relief for patients with cancer, past cancer, or sickle cell disease, and they are hopeful that payers see the update so that patients in pain are not denied or delayed relief.
Study Examines Time to Treatment in UK Cases of Myelofibrosis
April 6th 2019

Study Examines Time to Treatment in UK Cases of Myelofibrosis

Allison Inserro
"Watch and wait” is typically used first for asymptomatic patients with myelofibrosis, according to a retrospective review of management strategies from the United Kingdom.
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April 2nd 2019

The PAN Foundation Opens New Waldenstrom Macroglobulinemia Patient Assistance Fund

The Patient Access Network (PAN) Foundation today opened a new patient assistance program for people living with Waldenstrom macroglobulinemia, a rare type of blood cancer that originates in the lymphatic system and is characterized by an excess of abnormal white blood cells and proteins called immunoglobulins.
Immunotherapy Combination Demonstrates Efficacy in Patients With Rare Neuroendocrine Tumors
April 2nd 2019

Immunotherapy Combination Demonstrates Efficacy in Patients With Rare Neuroendocrine Tumors

Jaime Rosenberg
Data from a phase 2 study demonstrated that high-grade neuroendocrine carcinoma had a 42% overall response rate to the combination of nivolumab and ipilimumab.
Researchers Develop Targeted Next-Generation Sequencing Assay for Myeloid Neoplasms
March 30th 2019

Researchers Develop Targeted Next-Generation Sequencing Assay for Myeloid Neoplasms

Allison Inserro
Researchers from South Korea said they have developed a next-generation sequencing (NGS) assay to detect somatic mutations, translocations, and germline mutations in a single assay for the purpose of supplementing or replacing conventional tests in patients with myeloid neoplasms.
FDA Releases Draft Guidance Document on Natural History Studies for Rare Diseases
March 26th 2019

FDA Releases Draft Guidance Document on Natural History Studies for Rare Diseases

Samantha DiGrande
Earlier this week, the FDA released a draft guidance document titled, "Rare Diseases: Natural History Studies for Drug Development” with the intention of informing both the design and implementation of natural history studies that can be used to support the development of safe and effective treatments for rare diseases.
UK Patients, Physicians Feel More Burdened by Myeloproliferative Neoplasms
March 22nd 2019

UK Patients, Physicians Feel More Burdened by Myeloproliferative Neoplasms

Allison Inserro
A recent study found that patients with myeloproliferative neoplasms living in the United Kingdom, as well as their doctors, felt more burdened by the disease than other patients and providers in other parts of the world.
Continuing Systemic Treatment in Cutaneous T-Cell Lymphoma Associated With Lower Healthcare Costs
March 20th 2019

Continuing Systemic Treatment in Cutaneous T-Cell Lymphoma Associated With Lower Healthcare Costs

Mary Caffrey
The findings show that patients with cutaneous T-cell lymphoma who had continuous systemic treatment had average monthly emergency department costs that were $100 lower than those with interrupted treatment.
Greater Symptom Burden Associated With Medical Disability Leave in Patients With MPNs
March 16th 2019

Greater Symptom Burden Associated With Medical Disability Leave in Patients With MPNs

Samantha DiGrande
In a recent survey-based study, researchers analyzed the relationship between symptom burden and incidence of medical disability leave (MDL) among patients with myeloproliferative neoplasms, including myelofibrosis, polycythemia vera, and essential thrombocythemia.
Amphotericin to Fight Cystic Fibrosis? Researchers Hope Human Trials Prove Early Results
March 14th 2019

Amphotericin to Fight Cystic Fibrosis? Researchers Hope Human Trials Prove Early Results

Allison Inserro
The fungal drug amphotericin, which was discovered in 1953, could possibly help patients with cystic fibrosis fight chronic bacterial lung infections if results from an early study are validated in humans, researchers said Wednesday.
Study Tracks Myotonic Dystrophy Progression in 5-Year Follow-up
March 9th 2019

Study Tracks Myotonic Dystrophy Progression in 5-Year Follow-up

Allison Inserro
A longitudinal 5-year observational study to examine functional and structural cerebral changes in adult-onset myotonic dystrophies found some differences between the 2 types of this incurable genetic disorder and said that additional brain studies are needed in light of upcoming treatment trials for this rare disease.
Fedratinib Earns Priority Review Status for Myelofibrosis From FDA
March 8th 2019

Fedratinib Earns Priority Review Status for Myelofibrosis From FDA

Samantha DiGrande
Earlier this week, the FDA granted priority review to a new drug application for fedratinib for the treatment of myelofibrosis. The drug had previously been awarded an orphan drug designation for the treatment of primary and secondary myelofibrosis.
CHMP Recommends First Treatment of FCS for Marketing Approval
March 2nd 2019

CHMP Recommends First Treatment of FCS for Marketing Approval

Samantha DiGrande
The Committee for Medicinal Products for Human Use (CHMP) has adopted a positive opinion that an orphan drug, volanesorsen (Waylivra), receive a conditional marketing authorization. The drug would be the first medication approved for the treatment of the familial chylomicronemia syndrome (FCS).
5 Things About Rare Disease
March 2nd 2019

5 Things About Rare Disease

Allison Inserro
Organizations and agencies marked Rare Disease Day this week. Here are 5 things to know about rare disease.
Liver Biopsies Can Assist With Determining Future Status of Ruxolitinib Therapies
February 23rd 2019

Liver Biopsies Can Assist With Determining Future Status of Ruxolitinib Therapies

Allison Inserro
A case series discusses how a liver biopsy may prove instrumental in determining if ruxolitinib therapy should be discontinued or continued in patients with myelofibrosis (MF) and polycythemia vera (PV) experiencing liver damage.
Study Finds 74% Long-Term Survival Rate for Patients With Myelofibrosis
February 23rd 2019

Study Finds 74% Long-Term Survival Rate for Patients With Myelofibrosis

Samantha DiGrande
The only curative treatment for myelofibrosis (MF) continues to be allogeneic hematopoietic stem cell transplant (HSCT). Occasionally, adverse events posttransplantation can occur and usually present within the first 2 years after posttransplant. Researchers recently sought to analyze the outcome of 2-year disease-free survivors in a systematic review published in Haematologica.
A Tale of Drug Company Collaboration on a Rare Disease
February 14th 2019

A Tale of Drug Company Collaboration on a Rare Disease

Mary Caffrey
The PML Consortium formed among several pharmaceutical companies to prevent and treat a rare disease that emerged among patients taking immunomodulatory drugs. It could offer a model for finding solutions for adverse drug reactions.
FDA Approves the First Drug Specifically Indicated for aTTP
February 11th 2019

FDA Approves the First Drug Specifically Indicated for aTTP

Kelly Davio
On February 6, the FDA approved caplacizumab-yhdp (Cablivi), the first therapy specifically indicated for the treatment of acquired thrombotic thrombocytopenic purpura (aTTP) in adults. The drug is approved for use in combination with plasma exchange and immunosuppressive therapy.
Thymectomy Plus Prednisone Shows Benefit in Patients With Nonthymomatous Myasthenia Gravis
February 10th 2019

Thymectomy Plus Prednisone Shows Benefit in Patients With Nonthymomatous Myasthenia Gravis

David Bai, PharmD
Five-year results from the extended randomized MGTX trial demonstrated that the addition of thymectomy to prednisone leads to long-lasting lower quantitative myasthenia gravis (QMG) scores and prednisone dosing.
New Predictive Model Developed for Leukemic Transformation in Primary Myelofibrosis
February 4th 2019

New Predictive Model Developed for Leukemic Transformation in Primary Myelofibrosis

Kelly Davio
A recent study sought to develop a robust predictive model for patients whose disease will transform into acute myeloid leukemia, a complication that is associated with a poor prognosis.
Orphan Drugs Have Lower Drug Development Costs Compared With Nonorphan Drugs
February 3rd 2019

Orphan Drugs Have Lower Drug Development Costs Compared With Nonorphan Drugs

David Bai, PharmD
According to a recent study, the out-of-pocket clinical costs and capitalized clinical costs per approved drug were both lower for orphan drugs compared with nonorphan drugs.
ASCO Names "Progress in Treating Rare Cancers" as the Advance of the Year
January 31st 2019

ASCO Names "Progress in Treating Rare Cancers" as the Advance of the Year

Jaime Rosenberg
Reflecting on a year of breakthrough advancements in the treatment of rare, difficult to treat cancers, the American Society of Clinical Oncology (ASCO) has named “Progress in Treating Rare Cancers” as the Advance of the Year.
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