Rare Disease

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

February 12th 2025

Adult and pediatric patients with neurofibromatosis type 1 who have symptomatic plexiform neurofibromas that are not amenable to complete surgical resection are indicated in the approval.

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

SMA spinal muscular atrophy | Image Credit: © Rochu_2008 - stock.adobe.com
Protein Level Correlates With Pediatric SMA Severity, Treatment Response

October 17th 2024

Exploring the Implementation of Quality Care Programs for Patients with Myeloproliferative Neoplasms

Bruce Feinberg, DO; Kathy Oubre, Michael Reff, RPh, MBA; Jamile M. Shammo, MD; and Ruben Mesa, MD, discuss the incorporation of quality care programs for improved disease management and patient care for MPNs.

Exploring the Implementation of Quality Care Programs for Patients with Myeloproliferative Neoplasms peer exchange

More News

DMD Trial Results Demonstrate Decrease in Creatine Kinase Levels
July 10th 2018

DMD Trial Results Demonstrate Decrease in Creatine Kinase Levels

Alison Rodriguez
Results of a Phase 1/2a gene therapy clinical trial in children with Duchenne muscular dystrophy (DMD) revealed a significant decrease in levels of serum creatine kinase, an enzyme biomarker associated with muscle damage caused by DMD.
FDA Approves of First Marijuana-Based Drug to Treat Rare Forms of Epilepsy
July 8th 2018

FDA Approves of First Marijuana-Based Drug to Treat Rare Forms of Epilepsy

Alison Rodriguez
The FDA's approval of Epidiolex, to treat seizures associated with 2 rare forms of epilepsy, represents the first approval for a drug containing a purified drug substance from marijuana.
Study Encourages Mixed Methods Research for Rare Disease Clinical Trials
July 2nd 2018

Study Encourages Mixed Methods Research for Rare Disease Clinical Trials

Alison Rodriguez
Mixed methods research incorporating interviews found a high concordance between patient-reported qualitative data and assessed tumor response in patients with Merkel cell carcinoma.
Challenges with Treating Merkel Cell Carcinoma and Other Rare Diseases
July 1st 2018

Challenges with Treating Merkel Cell Carcinoma and Other Rare Diseases

Alison Rodriguez
In an interview with Rare Disease Report®, Nicholas J. Robert, MD, of McKesson Specialty Health, discussed the challenges and advances involving treating with treating Merkel cell carcinoma.
ELOQUENT-3 Meets Its Primary End Point in Treating Relapsed/Refractory Multiple Myeloma
June 24th 2018

ELOQUENT-3 Meets Its Primary End Point in Treating Relapsed/Refractory Multiple Myeloma

Kelly Davio
During the European Hematology Association’s 23rd Congress, held from June 14 to 17 in Stockholm, Sweden, researchers announced that the ELOQUENT-3 phase 2 study, evaluating elotuzumab with pomalidomide and low-dose dexamethasone in patients with relapsed/refractory multiple myeloma, met its primary endpoint in showing a statistically significant, clinically meaningful improvement in progression-free survival.
New Rare Disease Program Addresses Patients' Challenges and Burdens
June 18th 2018

New Rare Disease Program Addresses Patients' Challenges and Burdens

Alison Rodriguez
Patients with rare diseases often face a difficult and long diagnosis and treatment process. Express Scripts recently announced a new Rare Conditions Care Value program that includes the introduction of a support service known as Second Opinion, which offers guidance and expert case review for patients on an individual basis, with PinnacleCare.
Study Shows That Volanesorsen Reduces Disease Burden in Patients With FCS
June 17th 2018

Study Shows That Volanesorsen Reduces Disease Burden in Patients With FCS

Kelly Davio
Akcea Therapeutics has announced the publication of results from the Re-FOCUS study that sought to assess the burden of familial chylomicronemia syndrome (FCS) on patients and the impact of Akcea's proposed drug, volanesorsen, on disease burden.
Study Investigates Improving the Analysis of Composite Endpoints for Rare Disease
June 13th 2018

Study Investigates Improving the Analysis of Composite Endpoints for Rare Disease

Alison Rodriguez
A recent study investigated the effectiveness of the augmented binary method for investigating rare diseases in a small sample size.
FDA Grants Orphan Drug Designation to Treatment for Facioscapulohumeral Muscular Dystrophy
June 10th 2018

FDA Grants Orphan Drug Designation to Treatment for Facioscapulohumeral Muscular Dystrophy

Kelly Davio
GBC0905, a small-molecule drug, suppresses DUX4 function and protects skeletal muscle cells from muscle fiber death. Amanda Rickard, lead scientist of Genea Biocells’ FSHD program, said in a statement that the company expects the drug to be curative.
Patients With Down Syndrome Have Higher Risk of Pulmonary Hemosiderosis
June 6th 2018

Patients With Down Syndrome Have Higher Risk of Pulmonary Hemosiderosis

Alison Rodriguez
Pulmonary hemosiderosis (PH) is a rare, chronic lung disease characterized by hemoptysis, iron deficiency anemia, and alveolar and/or interstitial opacities on lung imaging. Little about the etiology and pathophysiology of the disease is known, but PH typically involves periods of remission and relapse. New research that investigated the relationships between PH and Down syndrome (DS), and found that patients with DS have a higher risk of developing PH.
FDA Grants Breakthrough Therapy Designation to Gene Therapy for Cerebral Adrenoleukodystrophy
June 3rd 2018

FDA Grants Breakthrough Therapy Designation to Gene Therapy for Cerebral Adrenoleukodystrophy

Kelly Davio
The FDA has granted a Breakthrough Therapy designation to bluebird bio, Inc’s Lenti-D, a gene therapy for patients with cerebral adrenoleukodystrophy, an X-linked genetic disorder caused by a defect in the gene ABCD1.
Study Analyzes Benefits of Ivacaftor Treatment for Cystic Fibrosis
May 30th 2018

Study Analyzes Benefits of Ivacaftor Treatment for Cystic Fibrosis

Alison Rodriguez
Patients with cystic fibrosis (CF) who were treated with ivacaftor have demonstrated favorable results for clinically important outcomes, including a lower prevalence of CF-related complications and improved lung function, according to a new study.
FDA Approves Pegvaliase-pqpz to Treat Adults With Phenylketonuria
May 27th 2018

FDA Approves Pegvaliase-pqpz to Treat Adults With Phenylketonuria

Kelly Davio
The FDA has approved BioMarin’s pegvaliase-pqpz (Palynziq), a drug for the treatment of phenylketonuria (PKU) in adults. PKU is a rare autosomal recessive disorder, affecting approximately 1 in every 10,000 to 15,000 people in the United States, that increases the levels of phenylalanine (an amino acid obtained through all dietary proteins and some artificial sweeteners) in the blood.
Dr Clifford Goodman Discusses the Challenge of Valuing New, Expensive Therapies for Rare Diseases
May 22nd 2018

Dr Clifford Goodman Discusses the Challenge of Valuing New, Expensive Therapies for Rare Diseases

Legislation, advancing science, and more sophisticated patient advocacy has led to a proliferation of new therapies to treat rare diseases, and society has begun to indicate a willingness to pay for these more expensive therapies, said Clifford Goodman, PhD, senior vice president and director, Center for Comparative Effectiveness Research, The Lewin Group.
Patients With Hemophilia A, With or Without Factor VIII, Benefitted from Emicizumab in HAVEN Trials
May 22nd 2018

Patients With Hemophilia A, With or Without Factor VIII, Benefitted from Emicizumab in HAVEN Trials

Samantha DiGrande
Trial results show that patients with hemophilia A with or without factor VIII inhibitors treated with emicizumab-kxwh every 4 weeks can have clinically meaningful control of bleeding.
The Muscular Dystrophy Association Awards Human Trial Grant for ALS Research
May 15th 2018

The Muscular Dystrophy Association Awards Human Trial Grant for ALS Research

Alison Rodriguez
Massachusetts General Hospital has received a $750,000 human clinical trial grant to explore the use of positron emission tomography imaging of inflammation to serve as a biomarker for amyotrophic lateral sclerosis diagnosis and clinical trials.
Market Exclusivity Bears Little Relationship to Increase in Rare Disease Drugs, Finds Study
May 13th 2018

Market Exclusivity Bears Little Relationship to Increase in Rare Disease Drugs, Finds Study

Kelly Davio
While the number of drugs approved for rare diseases has increased significantly since the passage of the Orphan Drug Act of 1983, questions linger about whether is connected with innovation in treatments for rare diseases, especially given the fact that patent protection for new products often extends well beyond the 7 years granted to orphan drugs.
The Rise of Orphan Drugs for Rare Diseases
May 7th 2018

The Rise of Orphan Drugs for Rare Diseases

Jaime Rosenberg
Since the Orphan Drug Designation program was passed in 1983, there have been over 600 orphan drug approvals, compared to less than 10 the decade before, said Stephen Jung, PharmD, BCPS, manager, drug information, MedImpact Healthcare Systems, during a session at the Academy of Managed Care Pharmacy’s Managed Care & Specialty Pharmacy Annual Meeting.
Lonafarnib Monotherapy Extends Survival in Progeria
May 6th 2018

Lonafarnib Monotherapy Extends Survival in Progeria

Kelly Davio
New research published in JAMA reports that lonafarnib, a farnesyltransferase inhibitor (FTI), extended survival in patients with Hutchinson-Gilford progeria syndrome (HGPS), or progeria.
Dr Aimee Tharaldson on Recently Approved Specialty Drugs, Upcoming Approvals to Watch
May 5th 2018

Dr Aimee Tharaldson on Recently Approved Specialty Drugs, Upcoming Approvals to Watch

Jaime Rosenberg
Aimee Tharaldson, PharmD, a senior clinical consultant in Emerging Therapeutics for Express Scripts, discusses specialty drugs that have recently been approved, and which we will likely see approved in the remainder of the year.
Research Provides Insight Into Cardiac-Related Mortality in Huntington Disease
May 1st 2018

Research Provides Insight Into Cardiac-Related Mortality in Huntington Disease

Kelly Davio
Huntington disease (HD) is an incurable, inherited neurological disorder caused by the mutant Huntingtin gene, which produces a mutant form of Huntingtin protein (mHTT). In addition to creating the profound neurological impacts of HD, the mHTT protein also impairs other organ systems, and new research, published in Cell Reports, suggests that the protein may play a role in cardiac-related mortality in patients with HD.
Patient-Reported Outcome Measures Are Key to Understanding Rare Diseases
April 29th 2018

Patient-Reported Outcome Measures Are Key to Understanding Rare Diseases

Kelly Davio
Rare disease can significantly reduce patients’ quality of life, and the use of patient-reported outcome measures (PROMs) can be key to helping researchers understand how diseases and treatments impact quality of life and symptoms, according to a review newly published in the Orphanet Journal of Rare Diseases.
Positive Interim Data Published for Transfusion-Dependent Β-Thalassemia Gene Therapy
April 24th 2018

Positive Interim Data Published for Transfusion-Dependent Β-Thalassemia Gene Therapy

Kelly Davio
Drug company bluebird bio, Inc, has announced the publication of positive interim data for its gene therapy to eliminate or reduce chronic blood transfusions in patients with transfusion-dependent β-thalassemia.
FDA Committee in Favor of Cannabidiol to Treat Two Rare Seizure Disorders
April 22nd 2018

FDA Committee in Favor of Cannabidiol to Treat Two Rare Seizure Disorders

Kelly Davio
The FDA’s Peripheral and Central Nervous System Drugs Advisory Committee has unanimously recommended approval of the New Drug Application for GW Pharmaceuticals’ proposed cannabidiol oral solution for the adjunctive treatment of seizures associated with 2 rare disorders, Lennox-Gastaut syndrome and Dravet syndrome, in patients 2 years and older.
Price Tag for Newly Approved Crysvita Is "Responsible," Says PBM Express Scripts
April 18th 2018

Price Tag for Newly Approved Crysvita Is "Responsible," Says PBM Express Scripts

Kelly Davio
Taking the rebates that it expects to negotiate into consideration, Ultragenyx said that burosumab will cost approximately $160,000 per patient per year for children and $200,000 per patient per year for adults, depending on body weight. The company said that it does not plan to increase costs in the early years of the drug’s availability.
As New Duchenne Therapy Enters Phase 1 Trial, Advocacy Groups Seek Better Access to Existing Drug
April 15th 2018

As New Duchenne Therapy Enters Phase 1 Trial, Advocacy Groups Seek Better Access to Existing Drug

Kelly Davio
Pfizer has dosed its first patient in a phase 1 clinical trial of an investigational gene therapy for the treatment of patients with Duchenne muscular dystrophy, a genetic disease that results in the absence of dystrophin, a protein that helps to keep muscle cells intact.
Discovery About Rare Bone Disease May Also Hold Clues About Bone Health
April 12th 2018

Discovery About Rare Bone Disease May Also Hold Clues About Bone Health

Allison Inserro
National Institutes of Health researchers have uncovered a genetic basis of a rare bone disease known as melorheostosis and said the discovery could offer potential treatment targets, provide clues about bone development, and lead to insights about fracture healing and osteoporosis.
Pediatric Sickle Cell Disease Drug Gains European Orphan Designation
April 8th 2018

Pediatric Sickle Cell Disease Drug Gains European Orphan Designation

Kelly Davio
Sancilio Pharmaceuticals announced that it has received the European Medicines Agency’s Orphan Designation for its SC411 (which it plans to market as Altemia), a proposed treatment for sickle cell disease in pediatric patients, in the European Union. The FDA granted the proposed drug a similar designation—the Rare Pediatric Disease designation—in 2017.
Siponimod Reduced Progression in Secondary Progressive Multiple Sclerosis in a Phase 3 Trial
April 1st 2018

Siponimod Reduced Progression in Secondary Progressive Multiple Sclerosis in a Phase 3 Trial

Kelly Davio
Results of a double-blind, randomized, phase 3 trial, published last week in The Lancet, show that siponimod—a selective sphingosine 1-phosphate receptor modulator—slowed the progression of disability in secondary progressive multiple sclerosis.
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March 26th 2018

Boys Don't Get HPV Vaccination Because Doctors Don't Recommend It, Study Finds

Mary Caffrey
Uptake for the human papillomavirus (HPV) vaccination has never reached CDC targets. Minority children from lower-income households are more likely to get the vaccination than white children from higher-income households, according to the study author.
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