Rare Disease

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FDA Approved | Image credit: B-design - stock.adobe.com
FDA Approves First RNA-Targeted Treatment for Hereditary Angioedema

August 21st 2025

The approval makes donidalorsen the only treatment in the US for hereditary angioedema that is an RNA-targeted prophylactic.

FDA headquarters | Image Credit: Tada Images - stock.adobe.com
FDA Issues CRL for Vatiquinone in Friedreich Ataxia, Requests More Efficacy Data

August 19th 2025

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

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

More News

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

Kelly Davio
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

Kelly Davio
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

Kelly Davio
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

Kelly Davio
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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September 28th 2018

Study Summary: ENDEAR

Finkel RS, Mercuri E, Darras BT, et al
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September 28th 2018

Study Summary: Vibration-Assisted Neuromuscular Rehabilitation for Children With Spinal Muscular Atrophy

Stark C, Duran I, Cirak S, et al. Vibration-assisted home training program for children with spinal muscular atrophy. Child Neurol Open. 2018, 5:2329048X18780477. doi: 10.1177/2329048X18780477.
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September 28th 2018

Study Summary: Reducing Admissions Among Children With Sickle Cell Disease Through Implementation of an Individualized Pain Plan

Schefft MR, Swaffar C, Newlin J, Noda C, Sisler I. A novel approach to reducing admissions for children with sickle cell disease in pain crisis through individualization, standardization in the emergency department. Pediatr Blood Cancer. 2018, 65(10):e27274. doi: 10.1002/pbc.27274.
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September 28th 2018

Study Summary: Pneumococcal Vaccination Among Children With Sickle Cell Anemia, Sickle Cell Trait, and Normal Hemoglobin

Reeves SL, Jary HK, Gondhi JP, Kleyn M, Wagner AL, Dombkowski KJ. Pneumococcal vaccination coverage among children with sickle cell anemia, sickle cell trait, normal hemoglobin. Pediatr Blood Cancer. 2018, 65(10):e27282. doi: 10.1002/pbc.27282.
NIH Seeks 'Self' Cure in Patients With Sickle Cell Disease
September 27th 2018

NIH Seeks 'Self' Cure in Patients With Sickle Cell Disease

David Bai
The new initiative will not focus on donor-related bone marrow transplants in sickle cell disease, but instead will home in on genetic modifications of a patient’s own stem cells.
PROs From the REVEAL Study Show Impact of PV on Patients' Lives
September 24th 2018

PROs From the REVEAL Study Show Impact of PV on Patients' Lives

Kelly Davio
The ongoing REVEAL study, a prospective observational study of US patients with the myeloproliferative neoplasm polycythemia vera (PV), is designed to gather data on disease burden, clinical management, patient-reported outcomes (PROs), and healthcare resource utilization of this patient population.
Epigenomic Analysis Uncovers Link Between Rheumatoid Arthritis and Huntington Disease
September 19th 2018

Epigenomic Analysis Uncovers Link Between Rheumatoid Arthritis and Huntington Disease

David Bai
In their study published in Nature Communications, the authors mapped out the epigenomic profiles of rheumatoid arthritis (RA) and osteoarthritis for the first time to provide insight on RA-specific pathways and transcription factor motifs. A surprising discovery was that the Huntingtin-interacting protein-1 may play a role in the pathogenesis of RA.
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September 19th 2018

Study Summary: Impact of Myeloproliferative Neoplasms on Employment Status and Work Productivity

Yu J, Parasuraman S, Paranagama D, et al. Impact of myeloproliferative neoplasms on patients
Prevalence of Autoimmune Myelofibrosis in Patients With Lupus May Be Underestimated
September 18th 2018

Prevalence of Autoimmune Myelofibrosis in Patients With Lupus May Be Underestimated

Kelly Davio
While the pathogenesis of autoimmune myelofibrosis is not completely understood, in patients with systemic lupus erythematosus, it may be triggered by circulating immune complexes that induce megakaryocytes to release platelet-derived growth factor.
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September 12th 2018

Study Summary: COMBI Study

Mikkelsen SU, Kj
Study in Blood Identifies Novel Mutations in Triple-Negative Myeloproliferative Neoplasms
September 12th 2018

Study in Blood Identifies Novel Mutations in Triple-Negative Myeloproliferative Neoplasms

David Bai
Using whole-exome sequencing and evaluating germline mutations, researchers have discovered novel mutations in several genes among patients with essential thrombocythemia and primary myelofibrosis, which could influence the treatment they receive.
A Minority of Patients With High-Risk Polycythemia Vera Receive Cytoreductive Medication
September 9th 2018

A Minority of Patients With High-Risk Polycythemia Vera Receive Cytoreductive Medication

Kelly Davio
According to treatment recommendations from the European LeukemiaNet and the National Comprehensive Cancer Network, patients with high-risk polycythemia vera (PV) should receive cytoreductive medication together with standard treatments for low-risk PV: phlebotomy and low-dose aspirin.
Cerebello-spinal tDCS Simulation Helps Reduce Neurodegenerative Ataxia Symptoms
September 6th 2018

Cerebello-spinal tDCS Simulation Helps Reduce Neurodegenerative Ataxia Symptoms

David Bai
Patients with neurodegenerative ataxia that are treated with cerebello-spinal transcranial direct current simulation (tDCS) have significant improvements in gait, upper limb coordination, quality of life, and other neurological evaluations of cerebellar deficits, according to results from the CStDCSAtaxia trial.
Combination Therapy With Interferon Alfa-2 and Ruxolitinib Shows Promise in Treating Myeloproliferative Neoplasms
September 4th 2018

Combination Therapy With Interferon Alfa-2 and Ruxolitinib Shows Promise in Treating Myeloproliferative Neoplasms

Kelly Davio
The COMBI study, a prospective, open‐label, single‐arm phase 2 study ongoing in Denmark, is investigating the feasibility of treating patients with low- to intermediate-risk myelofibrosis or polycythemia vera with low-dose pegylated interferon alfa-2 in combination with ruxolitinib.
Phase 2 STARS Trial Results Demonstrate Efficacy of OV101 for Treating Angelman Syndrome
September 2nd 2018

Phase 2 STARS Trial Results Demonstrate Efficacy of OV101 for Treating Angelman Syndrome

Alison Rodriguez
Ovid Therapeutics Inc., a biopharmaceutical company, recently announced that the phase 2 STARS trial, which tested the efficacy of the investigational drug OV101, achieved its primary endpoint of safety and tolerability for treating Angelman syndrome.
Lymphadenopathy May Be an Early Manifestation of Primary Myelofibrosis
August 29th 2018

Lymphadenopathy May Be an Early Manifestation of Primary Myelofibrosis

Kelly Davio
Extramedullary hematopoiesis—the presence of hematopoietic activity in sites outside of the bone marrow—can occur in malignant and non-malignant hematologic diseases, and they may be a complication of primary myelofibrosis.
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August 28th 2018

Study Summary: Real-World Adherence to Cytoreductive Treatment in Polycythemia Vera Is Low

Paranagama D, Colucci P, Evans KA, Bonafede M, Parasuraman S. Are patients with high-risk polycythemia vera receiving cytoreductive medications? a retrospective analysis of real-world data. Exp Hematol Oncol. 2018, 7:16. doi: 10.1186/s40164-018-0107-8.
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August 28th 2018

Study Summary: Compassionate Use of Pacritinib in Patients With Myelofibrosis

Mascarenhas J, Virtgaym E, Stal M, et al. Outcomes of patients with myelofibrosis treated with compassionate use pacritinib: a sponsor-independent international study. Ann Hematol. 2018, 97(8):1369-1374. doi: 10.1007/s00277-018-3309-6.
Experts Say Viruses May Have Potential for Treating Rare Cancers
August 26th 2018

Experts Say Viruses May Have Potential for Treating Rare Cancers

Alison Rodriguez
Viruses, when engineered, may have the potential to alter the course of cancer by driving tumor cells to express novel viral antigens or enhance the production of existing tumor antigens.
Leukocytosis Linked With Subsequent Thrombotic Events in Polycythemia Vera
August 22nd 2018

Leukocytosis Linked With Subsequent Thrombotic Events in Polycythemia Vera

Kelly Davio
The investigators in a recent study found that prior thrombotic events and leukocytosis were linked to subsequent thrombotic events in general, and prior arterial events and hyperlipidemia were linked with subsequent arterial events.
Pentraxin-3 Plasma Levels May Help Guide Clinical Decision-Making in Primary Myelofibrosis
August 19th 2018

Pentraxin-3 Plasma Levels May Help Guide Clinical Decision-Making in Primary Myelofibrosis

Kelly Davio
Pentraxin-3 is known to promote the transition of monocytes to fibrocytes, though little is known about its role in myelofibrosis.
Artificial Intelligence Company to Develop Treatments for Duchenne and Other Rare Diseases
August 15th 2018

Artificial Intelligence Company to Develop Treatments for Duchenne and Other Rare Diseases

Alison Rodriguez
Insilico Medicine, an artificial intelligence (AI) for drug discovery company, and A2A Pharmaceuticals, Inc., a biotechnology company focused on novel drug development for oncology, have recently announced their research collaboration to form a new company, Consortium.AI, which will apply advances in AI to discovery of novel small molecules for the treatment of Duchenne muscular dystrophy (DMD) and other rare diseases.
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