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

More News

Top 5 Rare Disease Articles of 2022
December 23rd 2022

Top 5 Most-Read Rare Disease Articles of 2022

Justina Petrullo
The most-read rare disease articles of the year included the topics of new pediatric central nervous system tumor guidelines, graft versus host disease, the contribution of gene variants to pediatric neuropsychiatric conditions, and hope for patients with blast-phase chronic myeloid leukemia.
Image of human body
December 19th 2022

Stiff Person Syndrome Spectrum Disorders: Knowledge Gaps and Future Research Considerations

Rose McNulty
Although rare, stiff person syndrome spectrum disorders can significantly affect patient quality of life, and current knowledge gaps warrant further research.
graphic depicting clinical trial
December 13th 2022

Real-world Study Confirms Clinical Benefit of Ruxolitinib in Heavily Pretreated cGVHD

Rose McNulty
A multicenter study supports the use of ruxolitinib in steroid-refractory and steroid-dependent chronic graft-versus-host disease, adding to promising clinical trial findings.
picture of an ICU
December 12th 2022

Report Details Severe Case of ARDS Following Ruxolitinib Discontinuation

Rose McNulty
The report is the first recorded case of acute respiratory distress syndrome (ARDS) that required venovenous extracorporeal membrane oxygenation and was complicated by spontaneous spleen rupture.
Image of clinical research
November 9th 2022

Need for More Research Into Chronic GVHD After Allogeneic HSCT Highlighted in New Review

Rose McNulty
Although the understanding of chronic graft-versus-host disease (GVHD) has improved in recent years, more work is needed to facilitate personalized treatments for patients after hematopoietic stem cell transplantation (HSCT).
Image of the blood
November 1st 2022

Non–Driver Gene Mutations May Hold Predictive Value in ET and PV

Rose McNulty
A recent study supports the notion that non–driver mutations in essential thrombocythemia (ET) and polycythemia vera (PV) have predictive value and found that a proposed international prognostication model may be useful for Japanese patients.
stethoscope on question mark
October 21st 2022

Clarifying Different Characteristics of Erythrocytosis

Rose McNulty
JAK2-unmutated erythrocytosis has a variety of etiologies, and identifying the underlying cause may prove helpful in cases where it is secondary to another condition such as polycythemia vera.
Stem Cells Highlighted as Potential Therapeutic Option in Huntington Disease
October 15th 2022

Stem Cells Highlighted as Potential Therapeutic Option in Huntington Disease

Rose McNulty
Although no pharmacological treatment offers long-term efficacy or extends survival with Huntington disease at this point, research suggests that stem-cell therapy holds promise in this and other neurodegenerative diseases.
Fatigued man
October 12th 2022

Patients With Lower-Risk MF, Low- or High-Risk ET Report Significant QOL Impacts

Rose McNulty
Despite the use of therapies to address the clinical manifestations of myelofibrosis (MF) and essential thrombocythemia (ET), the symptom burdens of these conditions continue to negatively affect patient quality of life (QOL).
thrombosis
October 8th 2022

Diagnostic and Treatment Considerations for Splanchnic Vein Thrombosis in MPN

Rose McNulty
The review highlighted key diagnostic and treatment considerations for patients with splanchnic vein thrombosis and myeloproliferative neoplasms.
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October 5th 2022

Scenario Analysis When Conducting Budget Impact Analyses for Rare Diseases

Eric P. Borrelli, PhD, PharmD, MBA R. Scott Leslie, PhD, MPH
The authors propose conducting a scenario analysis for interventions to treat rare diseases by varying health plan size to demonstrate the variability of potential budget impact.
image of a patient
September 30th 2022

How the Name Change to Myeloproliferative Neoplasms Affected People With the Disease

Leah Lawrence
A decision to rename myeloproliferative neoplasms led to a plethora of developments in a space where there was once little interest.
graphic of brain
September 19th 2022

bluebird bio Receives FDA Accelerated Approval for Rare Brain Disease Gene Therapy

AJMC Staff
The gene therapy is the first treatment for active cerebral adrenoleukodystrophy, a fatal neurodegenerative disease that affects boys.
Bone marrow blast cells
September 13th 2022

Early Timing, Optimal Conditioning Maximize Outcomes of Allo-SCT in MDSs and MPNs

Rose McNulty
A review published in Frontiers in Oncology explored the application of allo-SCT for myelodysplastic syndromes and myeloproliferative neoplasms.
What We're Reading
September 8th 2022

What We’re Reading: TX Judge Rules Against ACA PrEP Coverage; FDA Advisers Recommend ALS Drug Approval; Walmart, UnitedHealth Partnership

AJMC Staff
A Texas judge ruled that HIV pre-exposure prophylaxis (PrEP) coverage under the Affordable Care Act is unconstitutional; an FDA advisory panel recommended the approval of an experimental drug for amyotrophic lateral sclerosis (ALS); Walmart and UnitedHealth Group are collaborating to provide preventive health care for older Americans.
Group of young adults
September 5th 2022

Guidelines Needed for Managing MPNs in AYA Patients, Review Says

Rose McNulty
The management of myeloproliferative neoplasms (MPNs) in adolescent and young adult (AYA) patients is currently similar to that of older patients. However, comprehensive research is needed to form guidelines for this younger population.
What We're Reading
September 1st 2022

What We’re Reading: FDA Approves First ASMD Treatment; Amended EUA for COVID-19 Boosters; Blood Type and Stroke Risk

AJMC Staff
Olipudase alfa (Xenpozyme) was granted FDA approval for patients with Acid Sphingomyelinase Deficiency (ASMD); Moderna and Pfizer-BioNTech’s bivalent COVID-19 vaccines are each authorized for use as a booster dose; people with type A blood have an 18% higher risk of stroke before age 60, compared with other blood types.
FDA Approves Pemigatinib for Myeloid/Lymphoid Neoplasms With FGFR1 Rearrangement
August 26th 2022

FDA Approves Pemigatinib for Myeloid/Lymphoid Neoplasms With FGFR1 Rearrangement

AJMC Staff
The FDA Friday approved pemigatinib (Pemazyre), a selective fibroblast growth factor (FGFR) inhibitor, to treat adults who have relapsed or refractory (R/R) myeloid/lymphoid neoplasms (MLNs) with FGFR1 rearrangement, a very rare and aggressive cancer.
Image of patients
August 22nd 2022

Better HRQOL, Health Literacy Seen in Systemic Mastocytosis vs Mast Cell Activation Syndrome

Rose McNulty
Systemic mastocytosis and mast cell activation syndrome both negatively impact health-related quality of life (HRQOL), with mast cell activation syndrome patients reporting more significant impacts on everyday life.
Image of a child's face
August 15th 2022

Risk of Pediatric Neuropsychiatric Conditions Linked to Rare Genomic Variants, Intellectual Disability

Rose McNulty
Early genomic testing could identify the children who are most at risk and provide opportunities to intervene as early as possible.
CT scans of sinus
August 7th 2022

Review: Fine-Tuning Sinonasal Cancer Management Requires Increased Awareness and Further Clinical Studies

Rose McNulty
The rarity of sinonasal cancers presents various challenges for advancing disease management.
picture of teddy bear
August 4th 2022

NCCN Publishes Guidelines for Deadly Pediatric CNS Tumors

Jaime Rosenberg
The recommendations follow the World Health Organization’s recent update to its classifications of central nervous system (CNS) tumors to now include a structure for pediatric patients with CNS tumors.
Image of a newborn
August 2nd 2022

Large-scale Studies Needed to Guide Newborn Screening for Rare Diseases

Rose McNulty
Despite the known potential benefits of newborn screening, the exact long-term clinical benefits and cost-effectiveness in large cohorts remain uncertain due to a lack of large-scale longitudinal research.
Ground
July 27th 2022

Bacteria Behind Rare Disease Melioidosis Found in US for First Time

Allison Inserro
For the first time, the CDC has identified in Mississippi dirt and water samples a bacteria that causes a rare and sometimes fatal disease called melioidosis, which is common in low-income tropical countries and one that scientists have been warning about for several years.
Image of a sad patient
July 23rd 2022

Disease Duration, Treatment Intensity Linked With Lower QOL in Urticarial Vasculitis

Rose McNulty
A recent survey of patients with urticarial vasculitis found that quality-of-life (QOL) impairment is an important factor to consider when putting disease management plans in place.
graphic illustrating rare disease
July 21st 2022

Inflammatory Cytokine Profiles Are Similar in MDS and Unexplained Cytopenias, Study Suggests

Rose McNulty
Clonal cytopenias of undetermined significance often manifest prior to myelodysplastic syndromes (MDS), and a recent study found similarities in the cytokine profiles of the distinct conditions.
Image of a medical consultation
July 15th 2022

Doublet Therapy Shows Improved Outcomes vs Azacytidine Alone in MDS

Rose McNulty
The combination regimen delivered better overall survival and response rates among patients with myelodysplastic syndromes (MDS).
Acute myeloid leukemia
July 4th 2022

Hypomethylating Agents Can Produce Long Remission of MPNs but May Contribute to Morbidity, Mortality

Rose McNulty
Hypomethylating agents are a widely used treatment option in acute myeloid leukemia secondary to myeloproliferative neoplasms (MPNs), but careful monitoring of thromboembolic risk is needed for optimal outcomes.
Tubes of blood
July 2nd 2022

Assessing Longitudinal Trends in Essential Thrombocythemia, Polycythemia Vera Blood Counts

Rose McNulty
A recent study identified trends in blood counts, but did not find statistically significant associations between achieving hematological remission and clinical outcomes in polycythemia vera (PV) or essential thrombocythemia (ET).
Image of a pediatric patient
July 2nd 2022

Swedish Study Identifies MIS Risk Factors Among Pediatric Patients

Rose McNulty
Multisystem inflammatory syndrome (MIS) in children is a rare condition known to be associated with COVID-19, but more research is needed to identify at-risk patients and guide public health interventions.
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