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

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

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June 29th 2022

Population-Based Study Finds Racial Disparities in MDS Outcomes

Rose McNulty
Research presented at the 2022 American Society of Clinical Oncology Annual Meeting shows White patients with myelodysplastic syndrome (MDS) have worse overall survival outcomes than African American patients, contrary to previous findings in other cancer types.
FDA Offers Plan for Developing Drugs for Neurodegenerative Disease, Including ALS
June 24th 2022

FDA Offers Plan for Developing Drugs for Neurodegenerative Disease, Including ALS

Julia Bonavitacola
The FDA released an action plan to address the Accelerating Access to Critical Therapies for ALS (amyotrophic lateral sclerosis) Act.
image of a person filling out a survey
June 18th 2022

Poor Health-Related Quality of Life, Many Burdens in Rare Diseases, Study Finds

Lindsey Mulrooney
People with rare diseases experience significant diagnostic delays, high out-of-pocket costs, travel burden for specialty care, and insufficient dental and psychological support, according to new findings.
Image of blood in test viles
June 17th 2022

Transfusion-Dependent Patients With MDS Vary in Treatment Experiences, Preferences

Rose McNulty
Transfusion dependence is common for patients with myelodysplastic syndromes (MDS), but real-world data show inconsistent patient experiences and varied transfusion practices between countries.
Image of doctors and nurses
June 11th 2022

Autoimmunity May Spark Thrombosis in Patients With Polycythemia Vera, Study Says

Jared Kaltwasser
Physicians should consider measuring anti-endothelial cell antibodies in patients with polycythemia vera, the investigators suggested.
Image of vitamin D pills
June 9th 2022

Vitamin D May Affect GVHD Rates in Stem Cell Transplantation, Review Finds

Jared Kaltwasser
Study data are mixed, but some evidence suggests the administration of vitamin D may work as a low-risk prophylactic against graft-versus-host disease (GVHD).
stem cells
June 4th 2022

Study: Suggested Cyclosporine Levels Posttransplant May Be Too Low to Prevent GVHD

Rose McNulty
Preventing graft-versus-host disease (GVHD) after allogeneic stem cell transplant is a key aspect of patient management, but current cyclosporine concentration guidelines may not be sufficient, according to a recent study.
Individualized Antimicrobial Treatment, Prophylactic Regimens May Help With GVHD After Liver Transplant
June 3rd 2022

Individualized Antimicrobial Treatment, Prophylactic Regimens May Help With GVHD After Liver Transplant

Rose McNulty
A recent study aimed to provide insight and guidance for managing graft-versus-host disease in patients after liver transplantation.
Study Finds Link Between Particulate Matter Composition, ALS Aggravation
May 27th 2022

Study Finds Link Between Particulate Matter Composition, ALS Aggravation

Julia Bonavitacola
A recent study found positive associations between the organic matter component of particulate matter and disease aggravation in amyotrophic lateral sclerosis (ALS).
Study Combines Neurological Assessments to Better Identify SMA in Newborns
May 26th 2022

Study Combines Neurological Assessments to Better Identify SMA in Newborns

Rose McNulty
A small study aimed to increase the likelihood of detecting minor neurological symptoms of spinal muscular atrophy via a combination of tests specifically suited to newborns.
eyeball
May 26th 2022

Study Suggests Ocular GVHD Is Underdiagnosed in Patients After Hematopoietic Stem Cell Transplantation

Rose McNulty
A survey of blood and bone marrow transplant patients found that many who fit current criteria for ocular graft-versus-host disease have not been diagnosed.
Image of test tubes filled with blood in a lab
May 19th 2022

CLAD, Pulmonary GVHD Have Similar Clinical Traits, Research Needs

Rose McNulty
Fine-tuning clinical phenotypes and identifying effective treatments remain challenging in chronic lung allograft dysfunction (CLAD) after lung transplantation and chronic graft-versus-host disease (GVHD) after allogeneic hematopoietic stem-cell transplantation.
Image of sickled cells
May 15th 2022

RAS Inhibitors May Hold Potential as Preventive for Acute Chest Syndrome in Sickle Cell Disease

Rose McNulty
A retrospective study assessed hospital readmission rates in patients with sickle cell disease and acute chest syndrome who took angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers vs those who did not.
FDA logo
May 12th 2022

New FDA Program to Focus on Driving Rare Disease Drug Development

Gianna Melillo
In an effort to bolster development of treatments for rare diseases, the FDA announced the creation of the new Accelerating Rare disease Cures (ARC) program.
pregnant women
May 8th 2022

Review Highlights Treatment Landscape, Insights on Pregnancy Management for ET or PV

Rose McNulty
Polycythemia vera and essential thrombocythemia are both slow-progressing conditions and treated mainly with symptom management, but novel agents and gene targets have changed the landscape in recent years.
blood droplet
May 2nd 2022

Poorer Outcomes Associated With Recurrent aGVHD Warrant Independent Recognition, Says Study

Jaime Rosenberg
After a median follow-up of 535 days, analysis showed that recurrent acute graft-versus-host disease (RaGVHD) carried several implications for survival, leading the researchers to call for further risk stratification of aGVHD.
Image of blood in test tubes
April 27th 2022

Real-world Study Shows Ruxolitinib May Reduce Arterial Thrombosis in Polycythemia Vera

Rose McNulty
Previous studies have shown ruxolitinib effective in symptom relief and hematocrit control for hydroxyurea-resistant polycythemia vera, but its role in disease progression is not yet clear.
brain
April 24th 2022

MoCA Scores in HD Correlate With Caudate Atrophy, Cortical Thinning, Says New Research

Jaime Rosenberg
The findings suggest that the tool can be used to not only assess cognitive impairment in Huntington disease (HD) but also to detect brain atrophy patterns associated with cognitive status in these patients.
Rendering of sickle cell diseaes
April 22nd 2022

Decreased Levels of Zinc Associated With Worse SCD Severity in Children, Adolescents

Jaime Rosenberg
A review of 41 articles indicated that leveraging zinc supplementation in patients with sickle cell disease (SCD) is a safe and potentially effective approach for these patients.
Study Demonstrates Potential of Composite End Point in Assessing Treatment for PNH
April 19th 2022

Study Demonstrates Potential of Composite End Point in Assessing Treatment for PNH

Julia Bonavitacola
A recent study found that a composite end point developed by the researchers gave a single and simultaneous measurement of the overall benefit of treatment for paroxysmal nocturnal hemoglobinuria (PNH).
dollar sign on a microchip
April 14th 2022

ICER Examines Possible Policies Aimed at Sustaining Future Rare Disease Drug Development

Allison Inserro
The Institute for Clinical and Economic Review (ICER) and researchers at NORC at the University of Chicago released a white paper that looks at the future of affordability and sustainability of drug development for rare disease through the lens of 4 policy proposals.
abstract background
April 13th 2022

Researchers Identify Protein That May Be Indicator of Treatment Response in SMA

Jaime Rosenberg
With responses to current treatments varying among patients with spinal muscular atrophy (SMA), the researchers emphasized the importance of more prognostic markers for improved decision making.
Bernice Kwong, MD
April 8th 2022

Dr Bernice Kwong Discusses Impact of Delayed Diagnosis, Treatment for GVHD

Hayden E. Klein
Bernice Kwong, MD, clinical professor of dermatology, Stanford University, talks about how later diagnosis and treatment for graft-versus-host disease (GVHD) affects disease progression and overall patient outcomes.
blue science graphic
April 2nd 2022

Study Adds to Limited Data on SMA Genetic Landscape in Africa

Jaime Rosenberg
Acknowledging the small number of genetic reports used in their study, the researchers attribute the scarce amount of data to a lack of resources and limited access to genetic screening across Africa.
picture of bones in back
April 1st 2022

Case Report and Review Highlight Importance of Identifying Osteolytic Lesions in MPNs

Rose McNulty
A recent report details the first reported case of an osteolytic lesion in polycythemia vera and reviews current literature on osteolytic lesions in myeloproliferative neoplasms (MPNs) overall.
WWR banner
March 28th 2022

What We’re Reading: Epilepsy Drug Approval; Free COVID-19 Testing Ends; EPA Sued

AJMC Staff
The FDA approved a drug to treat a rare form of childhood epilepsy; uninsured Americans will no longer have access to free COVID-19 tests; a conservation group is suing the Environmental Protection Agency (EPA) over failure to protect rivers from pollution.
WWR banner
March 25th 2022

What We’re Reading: FDA Reviews ALS Drug; Vaccines Lower Long COVID-19; New COTA President, CEO

AJMC Staff
The FDA accepts an application for a drug to treat amyotriphic lateral sclerosis (ALS) for review; vaccines have been found to reduce people’s risk for developing long COVID-19; COTA announces Miruna Sasu, PhD, as its new president and CEO.
red cross
March 24th 2022

Case Series Assesses Clinical Features of Pediatric APS

Gianna Melillo
To enable a more personalized and proactive approach to pediatric antiphospholipid syndrome (APS), investigators assessed electronic medical records of 21 children.
Image of lab genetic research
March 20th 2022

Investigators Propose New Tool for Establishing Gene-Disease Relationships in Rare Diseases

Jared Kaltwasser
Advances in whole genome sequencing are helpful in linking genetic variants with diseases, but the process is more challenging in cases of rare and ultra-rare diseases.
Image of red blood cells
March 13th 2022

Potential Link Found Between Thrombotic Events, Mortality in Patients With PV, ET

Rose McNulty
Patients with polycythemia vera (PV) or essential thrombocythemia (ET) had a higher risk of thrombotic events than the general population, which was associated with mortality in a recent study.
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