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

FDA Clears Thymus Tissue Product to Treat Congenital Athymia
October 11th 2021

FDA Clears Thymus Tissue Product to Treat Congenital Athymia

AJMC Staff
The product, called Rethymic, is composed of human allogeneic thymus tissue that is processed and cultured and then implanted into children born without a thymus to help reconstitute immunity.
Scale comparison
October 6th 2021

Ruxolitinib Has Cost-effectiveness, Survival Benefits for Myelofibrosis vs Competitors

Maggie L. Shaw
Research presented at EHA2021 shows that the JAK 1/2 inhibitor ruxolitinib produced cost-effective benefits per quality-adjusted life-year and increased the overall survival rate for patients with myelofibrosis.
Doctor discussing with patient
October 3rd 2021

Management of Low-risk ET and PV Has Room for Improvement

Rose McNulty
Despite excellent prognoses in low-risk patients with essential thrombocytopenia (ET) and polycythemia vera (PV), knowledge gaps remain and novel, more tolerable therapies require reevaluation of treatment algorithms.
Doctor working on gene therapy
October 1st 2021

Pediatric AADC Deficiency Improves With New Gene Therapy

Maggie L. Shaw
This new analysis of 5-year data on a novel gene therapy from PTC Therapeutics shows both cognitive and motor function improvement in children with aromatic L-amino acid decarboxylase (AADC) deficiency, a rare central nervous system disorder.
Sleep person
September 26th 2021

Researchers Detail Case of Statin-Induced Necrotizing Myositis

Jaime Rosenberg
Immune-mediated necrotizing myopathy typically presents with progressive symmetrical proximal muscle weakness and myalgias, although some cases can present with respiratory and esophageal muscle weakness, as seen in this reported case study.
FDA Approves Ruxolitinib for Chronic GVHD
September 22nd 2021

FDA Approves Ruxolitinib for Chronic GVHD

AJMC Staff
Chronic graft-vs-host disease (GVHD) is a condition that can occur after an allogeneic stem cell transplant in which the donated cells initiate an immune response and attack the transplant recipient’s organs.
Blood in test tubes
September 21st 2021

Ruxolitinib Likely Safe, Effective in Chronic GVHD

Jaime Rosenberg
The study of 36 patients showed a response rate of 59% at 3 months, which increased to 62% at 6 months.
Tubes of blood for testing
September 18th 2021

JAK Inhibitor Treatment in Myelofibrosis May Depend on Treatment Line, Risk of AEs

Jaime Rosenberg
The data offer novel insights, as comparable data on the drug class is scarce despite 2 JAK inhibitors being approved for use in myelofibrosis and others showing promise.
Brain illustration
September 18th 2021

Managing Cerebrovascular Complications in Patients With MPN

Jaime Rosenberg
Complications of note in patients with myeloproliferative neoplasm (MPNs) include ischemic stroke, intracerebral and subarachnoid hemorrhage, microbleeds, posterior reversible encephalopathy syndrome, and dural sinus and cerebral vein thrombosis.
Prescription costs
September 11th 2021

Multistakeholder Panel Weighs In on Which Factors to Consider for Reimbursement of Orphan Drugs

Jaime Rosenberg
From the decision analysis came an agreement that reimbursement for an orphan drug should be based primarily on its effect on health-related quality of life, its effectiveness, and the availability of other treatment options.
Moderna Donates mRNA Therapy for Rare Disease to Nonprofit
September 10th 2021

Moderna Donates mRNA Therapy for Rare Disease to Nonprofit

AJMC Staff
Crigler-Najjar Syndrome Type 1 is an ultra-rare disease where treatment relies on a liver transplant or full-day phototherapy sessions.
caregivers
September 4th 2021

Family Caregivers of Patients With Gaucher Disease Report Lower Quality-of-Life Scores

Mary Caffrey
Gaucher disease is a rare metabolic condition that causes a fatty substance to build up in the organs and bones. Patients can suffer liver enlargement, anemia, and reduced platelets; they experience fatigue, bone infarctions, and permanent disability or death.
Study Shows Promise of Ruxolitinib in Children With Steroid-Refractory GVHD
September 3rd 2021

Study Shows Promise of Ruxolitinib in Children With Steroid-Refractory GVHD

Jaime Rosenberg
Most studies to date that show efficacy with ruxolitinib in this setting have been in adult patients.
Caregivers hug.
August 25th 2021

Patients, Caregivers Report Lack of Supportive Services for Inherited Metabolic Diseases

Jaime Rosenberg
The European-based survey collected information from over 900 patients and caregivers from 25 countries; the responses show a need for both local and national governments to scale up their services for patients with rare metabolic diseases, which also have a positive spillover effects for caregivers.
Pediatrician chekcing on his patient
August 21st 2021

Using Ruxolitinib to Target JAK1/2 in T-LBL May Prevent Treatment Resistance

Maggie L. Shaw
For pediatric patients with T-cell origin lymphoblastic leukemia (T-LBL) with disease progression following second-line treatment, investigators found that the JAK1/2 pathway may be a new actionable target through treatment with ruxolitinib.
Doctor reading report
August 18th 2021

Case Study Highlights Polycythemia Vera, Pure Erythroid Leukemia Connection

Jaime Rosenberg
Few cases have documented how myeloproliferative neoplasms, such as polycythemia vera, progress to pure erythroid leukemia, with just 5 such cases reported between 1952 and 1962.
pills and syringe graphic
August 14th 2021

Ruxolitinib, Venetoclax Combo Delays Disease Progression in Case Report of BCR-JAK2 Rearranged Myeloid Neoplasm

Jaime Rosenberg
The combination delayed disease progression for a year and a half, suggesting the treatments may be a viable option for patients not eligible for allogeneic stem cell transplantation.
calculator
August 11th 2021

Survey: Parents Cite Insurance Headaches, Knowledge Barriers Around Rare Disease Management

Gianna Melillo
Survey results underscore parents’ frustration with insurers when it comes to caring for their children with rare diseases.
Caduceus health care symbol.
August 7th 2021

Novel Enzyme Replacement Therapy Gains FDA Approval in Pompe Disease

Matthew Gavidia
FDA approves avalglucosidase alfa-ngpt (Nexviazyme) for the treatment of patients 1 year and older with late-onset Pompe disease.
Neon-enhanced nerve graphic
August 6th 2021

Study Estimates Prevalence of PSP, Highlights Suggestive Symptoms Prior to Diagnosis

Jaime Rosenberg
According to researchers, the prevalence of progressive supranuclear palsy (PSP) identified by their study is consistent with, but on the lower end, of previously reported estimates.
Smoking a cigarette
July 30th 2021

Smoking Affects Symptom Prevalence, Severity in Patients With MPN, Study Finds

Jaime Rosenberg
The study included more than 400 patients with Philadelphia-negative MPNs, all of whom completed a questionnaire related to their tobacco use and symptoms related to their disease.
Reactivation of Hepatitis B After Ruxolitinib for MPN Hinges on Antivirals
July 24th 2021

Reactivation of Hepatitis B After Ruxolitinib for MPN Hinges on Antivirals

AJMC Staff
The issue of reactivating hepatitis B and other chronic viruses such as herpes zoster after treatment for myeloproliferative neoplasms (MPN) is an emerging issue in hematologic malignancies, due to the power of newer therapies.
Graphic of cancer cells
July 22nd 2021

Receiving Ruxolitinib Post Transplant Improves Survival Among Patients With Myelofibrosis

Jaime Rosenberg
A study abstract presented at the European Hematology Association annual meeting found that, in a real-world setting, ruxolitinib resulted in prolonged survival among patients receiving the treatment following an allogeneic hematopoietic cell transplant.
researchers in lab
July 16th 2021

REACH3 Trial Yields Positive Outcomes Among Patients With GVHD Taking Ruxolitinib

Gianna Melillo
New data from the REACH3 trial show ruxolitinib resulted in positive outcomes among those with chronic graft-vs-host disease (GVHD).
Following Approval of Ruxolitinib, Relative Survival of pMF Has Slightly Increased
July 16th 2021

Following Approval of Ruxolitinib, Relative Survival of pMF Has Slightly Increased

Jaime Rosenberg
The nationwide, population-based study analyzed data on over 1900 patients with primary myelofibrosis (pMF), comparing rates of survival from 2001-2010 with 2011-2018.
Newspapers
July 14th 2021

What We’re Reading: CMS Updates Aim for Care Equity; Access to Experimental Therapies; Vaccine Mandates for Health Workers

AJMC Staff
CMS proposes update to Medicare Physician Fee Schedule; patients with rare diseases struggle to gain expanded access to experimental treatments; a coalition of health care organizations calls on facilities to require the COVID-19 vaccine for workers.
Researchers Review Current Status of HSCT for Myelofibrosis
July 10th 2021

Researchers Review Current Status of HSCT for Myelofibrosis

Allison Inserro
In a recent review, researchers describe what is currently known about allogenic hemopoietic stem cell transplant (HSCT) for myelofibrosis.
old man
July 8th 2021

Ruxolitinib Improves Survival for Older Patients With Primary Myelofibrosis

Jaime Rosenberg
The findings, coming from nearly a decade’s worth of retrospective data on patients aged at least 65 years, offer real-world evidence on the treatment’s impact on survival.
Patients With Early Myelofibrosis Need Improved Prognostic Models, Study Says
July 2nd 2021

Patients With Early Myelofibrosis Need Improved Prognostic Models, Study Says

Jaime Rosenberg
The findings, say the researchers, highlight a need for prognostic models specific to patients with prefibrotic primary myelofibrosis (pre-PMF).
AML graphic
June 26th 2021

AML, MF Remain Top Causes of Mortality Among Patients With MF Over Last 3 Decades

Jaime Rosenberg
This finding, say the researchers of the study, suggests an ongoing need for research and novel therapies for patients with the rare disorder.
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