Rare Disease

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5 Rare Disorders Named for Pioneering Female Scientists

By Maggie L. Shaw

May 23rd 2025

Explore 5 rare genetic and neurological disorders named after pioneering women in medicine, highlighting their significant contributions to previously unknown conditions.

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

By Giuliana Grossi

February 28th 2025

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

More News

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.

September 28th 2018

Study Summary: ENDEAR

Finkel RS, Mercuri E, Darras BT, et al

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.

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.

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

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

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

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.

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

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.

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

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

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

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

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

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.

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.

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

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

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.

FDA Approves Orkambi to Treat Cystic Fibrosis in Children Aged 2 to 5 Years

August 12th 2018

FDA Approves Orkambi to Treat Cystic Fibrosis in Children Aged 2 to 5 Years

While Orkambi was already approved to treat patients aged 6 years and older, this week’s approval marks the first time that very young patients, aged 2 to 5 years, have had a therapeutic option available to treat the cause of their cystic fibrosis.

FDA Approves the First Treatment for Unresectable Pheochromocytoma or Paraganglioma

August 8th 2018

FDA Approves the First Treatment for Unresectable Pheochromocytoma or Paraganglioma

In July 2018, the FDA approved iobenguane I 131 (Azedra), the first treatment for patients with unresectable pheochromocytoma or paraganglioma, which are rare tumors of the adrenal gland, that require systemic anticancer therapy. These tumors, which typically appear at an early age and are associated with premature death, can increase the production of epinephrines and norepinephrines, leading to a host of symptoms, including hypertension, vomiting, weakness, and chest pain.

For Families of Children With Life-Limiting Metabolic Diseases, End-of-Life Planning Is Key

August 5th 2018

For Families of Children With Life-Limiting Metabolic Diseases, End-of-Life Planning Is Key

Notably, in contrast to previous reports on palliative care in children, in which most children died at home, most of the children who died during the study period died in the hospital or in the intensive care unit. In fact, some of the children died while receiving interventions, such as the placement of a percutaneous endoscopic gastrostomy tube.

Low-Dose Fenfluramine Performs in Dravet Syndrome in Second Phase 3 Clinical Trial

August 1st 2018

Low-Dose Fenfluramine Performs in Dravet Syndrome in Second Phase 3 Clinical Trial

Fenfluramine, a drug that was previously sold as an appetite suppressant before it was withdrawn from the market in 1997 over concerns about its link to heart valve problems, may have a new application; low doses of fenfluramine hydrochloride have now proven successful in treating Dravet syndrome, a particularly severe form of epilepsy.

FDA Announces New Framework for Gene Therapies to Treat Rare Diseases

July 29th 2018

FDA Announces New Framework for Gene Therapies to Treat Rare Diseases

Alison Rodriguez

FDA Commissioner Scott Gottlieb, MD, announced the framework, which is intended to be complementary to the comprehensive policy framework for regenerative medicine that was announced last year.

QR Code–Linked System Could Improve Adrenal Crisis Management in Addison Disease

July 25th 2018

QR Code–Linked System Could Improve Adrenal Crisis Management in Addison Disease

Alison Rodriguez

When a patient experiences an adrenal crisis associated with Addison disease (primary adrenal failure), hydrocortisone and fluid resuscitation must be given immediately in order to prevent hypotensive shock and death. A recent clinical audit evaluated healthcare professionals’ management of adrenal crisis, and found that there is a clinical need to improve the acute management of this life-threatening condition.

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