Rare Disease

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Gene therapy, gene editing concept | image credit: vchalup - stock.adobe.com

Delandistrogene Moxeparvovec Fails to Meet Primary End Point in Phase 3 Study

By AJMC Contributor

November 15th 2024

Put up against placebo in the phase 3 EMBARK trial, delandistrogene moxeparvovec (Elevidys) did not significantly improve function after 52 weeks.

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

By Karen Jacobson-Sive

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

By Karen Jacobson-Sive

October 28th 2024

SMA spinal muscular atrophy | Image Credit: © Rochu_2008 - stock.adobe.com

Protein Level Correlates With Pediatric SMA Severity, Treatment Response

By Jared Kaltwasser

October 17th 2024

SMA puzzle pieces | image credit: Dzmitry - stock.adobe.com

Muscle-Directed Therapy Apitegromab Meets Primary End Point in Phase 3 SAPPHIRE Trial of SMA

By Marco Meglio

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

graphic depicting clinical trial

December 13th 2022

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

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

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

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

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

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

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

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

The review highlighted key diagnostic and treatment considerations for patients with splanchnic vein thrombosis and myeloproliferative neoplasms.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

Image of racial disparity

June 29th 2022

Population-Based Study Finds Racial Disparities in MDS Outcomes

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.

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