Rare Disease

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While the findings suggest that switching to onasemnogene abeparvovec after non–gene therapy treatments could be beneficial to patients with spinal muscular atrophy, it is not clear which patients may benefit the most from switching therapies. | Image credit: Rochu_2008 - stock.adobe.com
Switching to Gene Therapy After Nusinersen or Risdiplam May Benefit Patients With SMA

August 15th 2025

Children with spinal muscular atrophy (SMA) showed motor function improvements after switching to onasemnogene abeparvovec following prior treatment with nusinersen or risdiplam in a real-world study.

Dordaviprone is indicated for recurrent H3 K27M-mutant diffuse midline glioma, an ultra-rare, aggressive brain tumor primarily affecting children. | Image credit: wladimir1804 - stock.adobe.com
FDA Approves Dordaviprone as First and Only Treatment for Aggressive Form of Glioma

August 6th 2025

Women in science | Image Credit: © metamorworks-stock.adobe.com.jpeg
5 Rare Disorders Named for Pioneering Female Scientists

May 23rd 2025

RAre disease ribbon-Chinnapong-stock.adobe.com
5 Rare Diseases That Now Have Their First FDA-Approved Treatments

February 28th 2025

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

February 12th 2025

More News

Socioeconomic, Personality Factors Found to Impact Quality of Life for Patients With Facial Palsy
April 19th 2020

Socioeconomic, Personality Factors Found to Impact Quality of Life for Patients With Facial Palsy

Skylar Jeremias
Researchers found that the factors most associated with health related quality of life (HRQOL) in patients with facial palsy are age, bilateral facial palsy, severity of facial palsy, anxiety, and key personality traits, including extraversion and emotional stability.
FDA Issues Guidance for Developers Targeting Therapies for Single Enzyme Defect Diseases
April 12th 2020

FDA Issues Guidance for Developers Targeting Therapies for Single Enzyme Defect Diseases

Skylar Jeremias
The FDA released guidance on what sponsors should take into account when trying to demonstrate clinical effectiveness of new treatments in patients with slowly progressive, low-prevalence rare diseases with substrate deposition that result from single enzyme defects.
Dr Prakash Bhuyan Discusses Progress on COVID-19 Vaccine, Treatments for HPV-Related Cancers
April 11th 2020

Dr Prakash Bhuyan Discusses Progress on COVID-19 Vaccine, Treatments for HPV-Related Cancers

Prakash Bhuyan, MD, PhD, vice president of clinical development at Inovio, discusses the company's vaccine trial for coronavirus disease 2019 (COVID-19) as well as its DNA medicine platform for rare genital cancers.
Patients With Cushing Have New Nonsurgical Treatment Option
April 7th 2020

Patients With Cushing Have New Nonsurgical Treatment Option

Skylar Jeremias
Cushing syndrome, a rare endocrine disorder caused by abnormally excessive amounts of the hormone cortisol, has a new pharmaceutical treatment to treat cortisol overproduction.
Study Finds Funding Disparities Between Sickle Cell Disease, Cystic Fibrosis
March 31st 2020

Study Finds Funding Disparities Between Sickle Cell Disease, Cystic Fibrosis

Gianna Melillo
Disparities in funding exist between sickle cell disease (SCD) and cystic fibrosis, according to a study published in JAMA Network Open. For SCD, the disparities may be associated with decreased research productivity and novel drug development.
Yoga Could Aid Pulmonary Rehabilitation in Patients With LAM, Study Finds
March 24th 2020

Yoga Could Aid Pulmonary Rehabilitation in Patients With LAM, Study Finds

Gianna Melillo
Yoga may be used as a safe intervention for pulmonary rehabilitation in patients with lymphangioleiomyomatosis (LAM), according to a study published in the Orphanet Journal of Rare Diseases. The exercise could also potentially improve patients’ exercise capacity.
Study Characterizes Oro-Dental Anomalies in Loeys-Dietz Syndrome
March 18th 2020

Study Characterizes Oro-Dental Anomalies in Loeys-Dietz Syndrome

Gianna Melillo
The severity of oro-dental anomalies in patients with Loeys-Dietz syndrome segregates by gene mutations, according to a study published in the Journal of Medical Genetics.
Data Highlight Management, Outcomes of Calciphylaxis in Patients With CKD
March 10th 2020

Data Highlight Management, Outcomes of Calciphylaxis in Patients With CKD

Gianna Melillo
Researchers aimed to describe the management and outcomes of calcific uremic arteriolopathy, or calciphylaxis, in patients with chronic kidney disease (CKD), according to a study published in BMC Nephrology.
What We're Reading: Rare Disease Drug Development; Alcohol-Related Deaths; Health Plan Auto-Enrollment
March 4th 2020

What We're Reading: Rare Disease Drug Development; Alcohol-Related Deaths; Health Plan Auto-Enrollment

AJMC Staff
Federal incentives fail to spur development of new drugs to treat rare diseases; alcohol-related deaths have risen steadily over the past several years; will CMS stop auto-enrolling low-income individuals in exchange health plans?
Study Finds Smell, Taste Impaired in Patients With Wolfram Syndrome
March 3rd 2020

Study Finds Smell, Taste Impaired in Patients With Wolfram Syndrome

Gianna Melillo
Researchers determined that patients with Wolfram syndrome have impaired smell identification abilities and blunted perceptions of certain taste stimuli, according to a study published in the Orphanet Journal of Rare Diseases.
Rare Genomics Institute Marks International Rare Disease Day With New "RareWear" Program
February 29th 2020

Rare Genomics Institute Marks International Rare Disease Day With New "RareWear" Program

Gianna Melillo
The Rare Genomics Institute, a nonprofit patient advocacy group, announced it will launch its new RareWear program, marking 2020’s International Rare Disease Day. The program works with patients who have rare diseases to connect them with medical device providers specializing in technology for monitoring and managing conditions. Once matched, patients will receive a device for free from medical device technology providers Bodimetrics, Biotricity, or Strados Labs.
Dr Abby Statler: African American Patients With AML Exhibit Higher Kidney Test Abnormalities
February 26th 2020

Dr Abby Statler: African American Patients With AML Exhibit Higher Kidney Test Abnormalities

When we looked at the pre-treatment creatinine data, we found that African Americans were more likely to have abnormal results and white patients were more likely to have normal results–these differences were statistically significant, said Abby Statler, PhD, MPH, MA, research associate at Cleveland Clinic.
Dr Abby Statler Speaks on Eligibility Criteria Exclusions for MDS Clinical Trials
February 21st 2020

Dr Abby Statler Speaks on Eligibility Criteria Exclusions for MDS Clinical Trials

Our outcomes suggest that eligibility criteria for patients with MDS relevant to liver function, renal function, and comorbidities may be relaxed, especially for those who have minor renal function abnormalities who have shown to have similar clinical outcomes to those without such abnormalities, said Abby Statler, PhD, MPH, MA, research associate at Cleveland Clinic.
Study: Inconsistency of Rare Disease Definitions Causes Problems That Standardization Could Fix
February 19th 2020

Study: Inconsistency of Rare Disease Definitions Causes Problems That Standardization Could Fix

Skylar Jeremias
Investigators say that inconsistencies in the way rare diseases are defined contribute to misdiagnoses, delayed treatment, and other ills that could be addressed with global standards.
Review Evaluates Pharmacological Treatments for Rare Neoplastic Disease
February 18th 2020

Review Evaluates Pharmacological Treatments for Rare Neoplastic Disease

Gianna Melillo
A systematic review and meta-analysis of 10 studies to evaluate the efficacy and safety of pharmacological treatments for lymphangioleiomyomatosis yielded mixed results, according to the findings published in Respiratory Research.
New Blood Vessel Model Leads to Progeria Insights
February 11th 2020

New Blood Vessel Model Leads to Progeria Insights

Gianna Melillo
Biomedical engineers at Duke University constructed an advanced disease model for blood vessels prompting insights into Hutchinson-Gilford progeria syndrome, according to a study published in Stem Cell Reports.
Scientists Uncover New Insights Into Causes of Limb-Girdle Muscular Dystrophy
February 8th 2020

Scientists Uncover New Insights Into Causes of Limb-Girdle Muscular Dystrophy

Jared Kaltwasser
Scientists say they know which isoform of a key protein is most likely to lead to a rare type of muscular dystrophy.
Discovery Could Enable Effective Treatments for Rare Blood Disease
February 3rd 2020

Discovery Could Enable Effective Treatments for Rare Blood Disease

Gianna Melillo
Cancer cells present in skin lesions resulting from mycosis fungoides originate from the blood, disproving previously held hypotheses regarding the disease’s pathogenesis, according to a study published in the American Society of Hematology’s Blood.
Report Describes Rare Combination of Abdominal Aortic Aneurysm, Kidney Cancer With Polycythemia
February 2nd 2020

Report Describes Rare Combination of Abdominal Aortic Aneurysm, Kidney Cancer With Polycythemia

Alison Rodriguez
The case study involved a 61-year-old obese Caucasian male with a medical history of smoking, hypertension, chronic obstructive pulmonary disease, and sleep apnea who initially presented to the hematology clinic with polycythemia.
French Pharmaceutical Company Pauses Studies on Treatment for Rare Bone Disease
January 28th 2020

French Pharmaceutical Company Pauses Studies on Treatment for Rare Bone Disease

Gianna Melillo
Ipsen, a French pharmaceutical company based in Paris, announced it has paused studies conducted on a drug used to treat Fibrodysplasia ossificans progressive (FOP).
Researchers Identify Biomarker for Spotted Fever Rickettsial
January 26th 2020

Researchers Identify Biomarker for Spotted Fever Rickettsial

Alison Rodriguez
Researchers recently discovered a sensitive and specific biomarker that may enable early diagnosis, treatment, and public awareness of spotted fever rickettsial infections, including Mediterranean spotted fever (MSF), according to a study published in the American Journal of Pathology.
Dr Ruben Mesa Outlines the Quality-of-Life Impact of Myelofibrosis
January 24th 2020

Dr Ruben Mesa Outlines the Quality-of-Life Impact of Myelofibrosis

Patients with myelofibrosis can see their quality of life impacted in a range of ways with various symptoms, said Ruben Mesa, MD, director of UT Health San Antonio MD Anderson Cancer Center.
Study Finds miR-543 Could Be a Novel Biomarker for Patients With Myelofibrosis
January 21st 2020

Study Finds miR-543 Could Be a Novel Biomarker for Patients With Myelofibrosis

Gianna Melillo
A study published in JCI Insight determined miR-543, an RNA gene, plays a significant role in the epigenetic landscape of myelofibrosis, specifically via its targeting of the dioxygenases ten-eleven translocation 1 and 2.
Literature Review Suggests Genetic Skeletal Disorder Therapies Are Continuously Being Developed
January 20th 2020

Literature Review Suggests Genetic Skeletal Disorder Therapies Are Continuously Being Developed

Alison Rodriguez
Despite challenges of rare disease drug development, genetic skeletal disorder (GSD) therapies continue to be developed through novel approaches such as drug repurposing and in-utero stem cell transplants, according to a recent review.
Steroids Ineffective in Treating One-Third of Acute GVHD Pediatric Patients, Study Finds
January 16th 2020

Steroids Ineffective in Treating One-Third of Acute GVHD Pediatric Patients, Study Finds

Alison Rodriguez
A study investigating the clinical phenotype of acute graft-versus-host disease (GVHD) in children reveals that one-third of pediatric patients with the disease are not successfully treated with steroids as a primary GVHD therapy.
FDA Drug Approvals Report for 2019 Highlights New Treatments for Rare Diseases
January 9th 2020

FDA Drug Approvals Report for 2019 Highlights New Treatments for Rare Diseases

Gianna Melillo
This week, the FDA’s Center for Drug Evaluation and Research (CDER) released its annual report, Advancing Health Through Innovation: New Drug Therapy Approvals, outlining new drugs approved or marketed in America for the first time.
Combination of Ruxolitinib and PEG-INF α2 Effectively Treats Patients With Polycythemia Vera, Myelofibrosis
January 8th 2020

Combination of Ruxolitinib and PEG-INF α2 Effectively Treats Patients With Polycythemia Vera, Myelofibrosis

Gianna Melillo
In the first clinical trial of its kind, Danish researchers investigated the efficacy of a combination treatment of ruxolitinib and low-dose pegylated interferon-α2 (PEG-INF α2) in patients with polycythemia vera and myelofibrosis, according to a study published in Haematologica.
Dr Ruben Mesa on the Importance of Gauging Quality of Life in MPNs
January 6th 2020

Dr Ruben Mesa on the Importance of Gauging Quality of Life in MPNs

Quality of life is an important end point in clinical trials, and it is important to discuss that with regulatory agencies, said Ruben Mesa, MD, director of UT Health San Antonio MD Anderson Cancer Center.
Increased WBC Count Linked With Thrombotic Events in Patients With PV
January 5th 2020

Increased WBC Count Linked With Thrombotic Events in Patients With PV

AJMC Staff
Thrombotic events are a significant cause of morbidity and mortality for patients with polycythemia vera (PV), and previous reports have shown a significant correlation between elevated white blood cell (WBC) count and thrombotic events. A recently published study among patients treated in the US Veterans Health Administration (VHA) has now substantiated those findings, suggesting that controlling WBC count should be an important facet of managing PV.
Splenomegaly Linked With Thrombosis, Cardiovascular Risk for Patients With ET and PV
January 2nd 2020

Splenomegaly Linked With Thrombosis, Cardiovascular Risk for Patients With ET and PV

Kelly Davio
Splenomegaly, or enlargement of the spleen, is common in patients with Philadelphia-negative myeloproliferative neoplasms, and it is associated with symptoms like early satiety and abdominal pain. The role that splenomegaly has in terms of quality of life and prognosis in primary myelofibrosis is fairly well understood, but it has been less frequently investigated among patients with essential thrombocythemia (ET) and polycythemia vera (PV).
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