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5 Rare Diseases That Now Have Their First FDA-Approved Treatments

By Giuliana Grossi

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

By Giuliana Grossi

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

By AJMC Contributor

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

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

More News

Investigators Seek to Better Understand the Molecular Basis of Polycythemia Vera

January 7th 2019

Investigators Seek to Better Understand the Molecular Basis of Polycythemia Vera

While a common genetic mutation among patients with polycythemia vera (PV) is V617F in exon 14 of the Janus kinase 2 (JAK2) gene—which activates the tyrosine kinase—it has been reported that patients with V617F-negative PV have mutations in exon 12 of JAK2. Exon 12 mutations are involved in approximately 3% of patients with PV, and these patients often have reduced erythroblasts in the bone marrow and hypercellular bone marrow.

5 Things About the Orphan Drug Act

January 4th 2019

5 Things About the Orphan Drug Act

Laura Joszt, MA

January 4 marks the anniversary of the Orphan Drug Act, which was enacted in 1983. Since the law was passed, it has successfully encouraged more orphan drug development, but some now say drug makers are manipulating the system and the incentives need to be revisited.

Early Study Promising for Ruxolitinib, Decitabine for Myeloproliferative Neoplasms

January 3rd 2019

Early Study Promising for Ruxolitinib, Decitabine for Myeloproliferative Neoplasms

David Bai, PharmD

A phase 1 trial by showed that decitabine with ruxolitinib was generally well tolerated and displayed promising clinical efficacy in patients with accelerated or blast-phase myeloproliferative neoplasms (MPN-AP/BP).

FDA Approves First Drug to Treat Blastic Plasmacytoid Dendritic Cell Neoplasm

January 3rd 2019

FDA Approves First Drug to Treat Blastic Plasmacytoid Dendritic Cell Neoplasm

The FDA has approved Stemline Therapeutics’ tagraxofusp-erzs (Elzonris), the first drug approved to treat blastic plasmacytoid dendritic cell neoplasm (BPDCN) in adults and in pediatric patients aged 2 years or older.

Bill Addressing Sickle Cell Disease/Heritable Blood Disorders Signed Into Law

December 29th 2018

Bill Addressing Sickle Cell Disease/Heritable Blood Disorders Signed Into Law

The Sickle Cell Disease and Other Heritable Blood Disorders Research, Surveillance, Prevention, and Treatment Act of 2018, which reauthorizes a sickle cell disease prevention and treatment program and provides grants for research, surveillance, prevention, and treatment of heritable blood disorders, has passed Congress and been signed into law.

Males With MPN Have More Aggressive Disease Biology, Independent of Other Factors

December 28th 2018

Males With MPN Have More Aggressive Disease Biology, Independent of Other Factors

Males with myeloproliferative neoplasms have worse survival compared with females with MPN, even when adjusted for age at presentation, presenting phenotype, and molecular characteristics.

Study Suggests Support Cells in the Brain Are Key Contributors to Huntington Disease

December 20th 2018

Study Suggests Support Cells in the Brain Are Key Contributors to Huntington Disease

Faulty glia cells in the brain may trigger Huntington disease (HD), a finding that may potentially create a path for new treatments and therapies, according to a recent study in Cell Stem Cell.

Daily Bleed Diaries of Patients With Hemophilia A Show Surprisingly High Number of Untreated Bleeds

December 13th 2018

Daily Bleed Diaries of Patients With Hemophilia A Show Surprisingly High Number of Untreated Bleeds

The observational, noninterventional study was part of an emicizumab clinical development program in which a daily bleed and medication questionnaire developed by the sponsor on a handheld device was used to prospectively collect data on treatment with factor VIII or bypassing agents in adult and adolescent people with hemophilia A, with and without inhibitors to FVIII.

Study Confirms Safe Use of Opioids for Pain Control in Sickle Cell Disease

December 11th 2018

Study Confirms Safe Use of Opioids for Pain Control in Sickle Cell Disease

According to a study results presented at the 60th American Society of Hematology Annual Meeting & Exposition, the use of opioid medications for pain control in sickle cell disease (SCD) is relatively safe, and there has been no associated increase in hospital SCD mortality.

Continuous Infusion of Recombinant Activated Factor VII Safe, Effective in Management of Congenital Hemophilia

December 8th 2018

Continuous Infusion of Recombinant Activated Factor VII Safe, Effective in Management of Congenital Hemophilia

A literatur survey concludes that the efficacy of recombinant activated factor VII administered by continuous infusion (rFVIIa CI) in patients with congenital hemophilia with inhibitors or congenital factor VII deficiency undergoing surgery and during bleeding episodes appears to be high and comparable to that of rFVIIa delivered by bolus injection.

Hydroxyurea Better Than Phlebotomy at Preventing Nonfatal Arterial Thrombosis in Polycythemia Vera

December 4th 2018

Hydroxyurea Better Than Phlebotomy at Preventing Nonfatal Arterial Thrombosis in Polycythemia Vera

The researchers wrote that theirs was the first such study to document the greater antithrombotic protection of hydroxyurea over PHL against arterial thrombosis. They also found that the 2 treatments lent similar protection from venous thrombosis.

Discovery of Subtype-Specific Transcriptional Regulators in AML Can Improve Personalized Treatment

November 29th 2018

Discovery of Subtype-Specific Transcriptional Regulators in AML Can Improve Personalized Treatment

A new study published in Nature Genetics suggests there may be new ways for personalized and precise treatment of acute myeloid leukemia (AML) that could increase the chances of survival in patients with this aggressive cancer of the white blood cells.

Prevalence of Pulmonary Hypertension in Patients With MPN Lower Than Previously Reported

November 27th 2018

Prevalence of Pulmonary Hypertension in Patients With MPN Lower Than Previously Reported

Pulmonary hypertension (PH) has been reported to be associated with myeloproliferative neoplasms (MPN) in 5% to 48% of MPN patients. Now, authors of the largest PH study in patients with Philadelphia chromosome-negative MPN have concluded that the prevalence of PH is lower than has been previously reported.

New Guideline Released on Managing Complications in Polycythemia Vera

November 23rd 2018

New Guideline Released on Managing Complications in Polycythemia Vera

The British Society for Haematology has released a new updated guideline that offers practical guidance for the management of specific situations and complications of polycythemia vera and outlines management of the diverse types of secondary erythrocytosis.

Early Data Suggests CC-486 Relatively Safe, Effective in Thrombocytopenic Patients With MDS

November 21st 2018

Early Data Suggests CC-486 Relatively Safe, Effective in Thrombocytopenic Patients With MDS

There have been few therapeutic options for treating thrombocytopenia in MDS patients. Now, early phase data suggest that CC-486 (oral azacytidine, an investigational drug sponsored by Celgene) is a relatively safe and effective treatment for thrombocytopenic patients with MDS.

Mutant NPM1 Maintains Leukemic State via HOX Expression in AML

November 17th 2018

Mutant NPM1 Maintains Leukemic State via HOX Expression in AML

Treatment of acute myeloid leukemia (AML) has remained a challenge, partly because of an insufficient understanding of the molecular mechanisms that promote and maintain the leukemic state of AML cells.

Crizanlizumab Can Reduce or Delay Pain Crises Events in Patients With Sickle Cell Disease

November 14th 2018

Crizanlizumab Can Reduce or Delay Pain Crises Events in Patients With Sickle Cell Disease

Treatment with the investigational drug crizanlizumab (SEG101) reduced pain in patients with sickle cell disease (SCD) who were experiencing vaso-occlusive crisis according to posthoc results of the phase II SUSTAIN study published online in The American Journal of Hematology. The study found that more than twice as many patients with SCD treated with crizanlizumab did not experience a VOC compared with those treated with placebo.

November 13th 2018

Sanofi Pivotal Trial to Target Driver of Cyst Growth in PKD

If the trial is successful, venglustat could be the first treatment to target the mechanism of action in autosomal dominant polycystic kidney disease (PKD), which affects 120,000 people in the United States.

Therapeutic Phlebotomy, Hydroxyurea Improve Overall Survival in Geriatric Polycythemia Vera

November 9th 2018

Therapeutic Phlebotomy, Hydroxyurea Improve Overall Survival in Geriatric Polycythemia Vera

Treatments with therapeutic phlebotomy and hydroxyurea are associated with improved overall survival and decreased risk of thrombosis in older patients with polycythemia vera, according to a recent retrospective cohort study published in Blood Advances.

New Tool May Provide Deeper Understanding of Glioblastoma Multiforme

November 8th 2018

New Tool May Provide Deeper Understanding of Glioblastoma Multiforme

Researchers at Cornell University have developed a new tool to study genetic switches active in human glioblastoma tumors that drive the growth of the cancer.

PZ-2891 Offers New Therapeutic Option for Pantothenate Kinase-Associated Neurodegeneration

November 2nd 2018

PZ-2891 Offers New Therapeutic Option for Pantothenate Kinase-Associated Neurodegeneration

David Bai, PharmD

PZ-2891 is a new and unique therapeutic agent that has shown to be able to penetrate the blood-brain barrier and increase coenzyme A levels in mice, leading to increased weight, longer life span, as well as improving locomotor activity, based on results from a study by Sharma et al.

Phlebotomy, Cytoreductive Treatments Are Effective Yet Underused in Older Patients With PV

October 29th 2018

Phlebotomy, Cytoreductive Treatments Are Effective Yet Underused in Older Patients With PV

Guidelines indicate that high-risk patients with polycythemia vera (PV) should be treated with phlebotomy and cytoreductive therapy—such as hydroxyurea or interferon-alfa—to reduce the risk of thrombosis, the major cause of death among patients with PV. To assess the effectiveness of these treatment modalities among older US adults with PV, the authors of a newly published paper evaluated a large cohort of patients with PV in the real-world setting.

BK Virus-Specific T Cells May Be an Effective Option to Treat Progressive Multifocal Leukoencephalopathy

October 26th 2018

BK Virus-Specific T Cells May Be an Effective Option to Treat Progressive Multifocal Leukoencephalopathy

David Bai, PharmD

In patients with progressive multifocal leukoencephalopathy (PML), BK virus-specific T-cell infusions have been shown to clear JC virus in the cerebrospinal fluid (CSF) and relieve clinical symptoms, according to results of a study by Muftuoglu et al.

Smoking Is Linked With Increased Risk of Myeloproliferative Neoplasms

October 23rd 2018

Smoking Is Linked With Increased Risk of Myeloproliferative Neoplasms

A recently published cohort study with a register-based follow-up of some individuals from the Danish general population sought to investigate whether smokers are at an increased risk for developing MPNs versus those who have never smoked.

FDA Approves Hemlibra for Hemophilia A With or Without Factor VIII Inhibitors

October 19th 2018

FDA Approves Hemlibra for Hemophilia A With or Without Factor VIII Inhibitors

David Bai, PharmD

With its new FDA approval, Hemlibra (emicizumab-kxwh), a bispecific factor IXa- and factor X-directed antibody, has become the first prophylactic treatment for patients with hemophilia A with or without factor VIII inhibitors.

Driver Mutations May Predict Patient Outcomes in Myeloproliferative Neoplasms

October 15th 2018

Driver Mutations May Predict Patient Outcomes in Myeloproliferative Neoplasms

Myeloproliferative neoplasms have varied progression rates, and a complex genetic landscape may contribute to heterogeneity in the outcomes of patients with these diseases.

Children With B-Cell Precursor ALL Have Dysregulated Immune Function

October 11th 2018

Children With B-Cell Precursor ALL Have Dysregulated Immune Function

David Bai, PharmD

Abnormal concentrations of inflammatory markers detected in children with B-cell precursor acute lymphoblastic leukemia (ALL) support the theory that children with ALL are born with dysregulated immune function.

Thromboembolic Events Are Associated With Higher Costs in Patients With Polycythemia Vera

October 9th 2018

Thromboembolic Events Are Associated With Higher Costs in Patients With Polycythemia Vera

A recent paper sought to address the knowledge gap in the literature with respect to the effects of cardiovascular events and thromboembolic events on healthcare cost associated with patients with polycythemia vera receiving hydroxyurea.

ODC1 Gene Mutation Leads to Alopecia and Developmental Delays

October 5th 2018

ODC1 Gene Mutation Leads to Alopecia and Developmental Delays

David Bai, PharmD

The ornithine decarboxylase 1 (ODC1) gene, for the first time in humans, has been linked to a new pediatric disorder leading to macrosomia, macrocephaly, developmental delays, alopecia, hypotonia, and hearing loss, according to a new report.

Alternative Ruxolitinib Dosing Regimen May Mitigate Anemia in Patients With Myelofibrosis

October 2nd 2018

Alternative Ruxolitinib Dosing Regimen May Mitigate Anemia in Patients With Myelofibrosis

A recent open-label, single-arm, phase 2 study sought to assess evaluate an alternative dosing regimen for adults myelofibrosis (MF) to assess whether such a regimen could mitigate anemia.

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