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

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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.
Defective Toll-Like Receptor Regulation May Predispose Individuals to MPNs
January 28th 2019

Defective Toll-Like Receptor Regulation May Predispose Individuals to MPNs

Kelly Davio
A recent study reports that monocytes from patients with myeloproliferative neoplasms (MPNs) have a defective negative regulation of Toll-like receptor (TLR) signaling that allows for the unrestrained production of tumor necrosis factor alpha after TLR activation. Additionally, the authors write that TLR signaling not only contributes to chronic inflammation in patients with MPN, but also may predispose individuals to acquire MPNs.
Healthcare Costs for Mitochondrial Disease Are Comparable to Those for ALS and MS
January 24th 2019

Healthcare Costs for Mitochondrial Disease Are Comparable to Those for ALS and MS

David Bai, PharmD
Patients with mitochondrial disease have a significantly higher cost burden compared with the general population, according to the results of a recent retrospective claims analysis.
FDA Revises Draft Guidance on Developing Drugs for Rare Diseases
January 21st 2019

FDA Revises Draft Guidance on Developing Drugs for Rare Diseases

Kelly Davio
The FDA has issued an update to its 2015 draft guidance on developing drugs to treat rare diseases.
Review Examines Ruxolitinib's Role in the Evolving MPN Treatment Landscape
January 14th 2019

Review Examines Ruxolitinib's Role in the Evolving MPN Treatment Landscape

Kelly Davio
A recent review explores the current understanding of the molecular effects of ruxolitinib and its place in the evolving landscape for the treatment of myeloproliferative neoplasms (MPNs).
Results From Phase 3 Trial Report Sorafenib Show Positive Results for Treating Desmoid Tumors
January 13th 2019

Results From Phase 3 Trial Report Sorafenib Show Positive Results for Treating Desmoid Tumors

David Bai, PharmD
Patients with progressive, symptomatic, or recurrent desmoid tumors who received sorafenib have significantly improved progression-free survival (PFS) rates at 1 and 2 years compared with patients who received placebo, according to the results of a recent phase 3 trial.
Rethinking the Business of Cures
January 11th 2019

Rethinking the Business of Cures

Laura Joszt, MA
One-time curative treatments provide a huge challenge to health systems that were not created with them in mind. Despite having no approved treatments, bluebird bio has proactively released a model to pay for these one-time cures in a way that provides value to patients and the health system.
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