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

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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.
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

Kelly Davio
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

Kelly Davio
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

Kelly Davio
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

Kelly Davio
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.
Study Finds Acetazolamide May Be Effective in Treating Glioblastoma
July 22nd 2018

Study Finds Acetazolamide May Be Effective in Treating Glioblastoma

Alison Rodriguez
Acetazolamide, sold under the trade name Diamox, is a drug used to treat altitude sickness, glaucoma, epilepsy, heart failure, and seizures. According to a new study, acetazolamide may also be effective in treating the fast-growing brain tumor glioblastoma.
Researchers Find Astrocytes to Be Central Driver Behind Huntington Disease Pathology
July 18th 2018

Researchers Find Astrocytes to Be Central Driver Behind Huntington Disease Pathology

Alison Rodriguez
Recent study results reveal the importance of the role of astrocytes in the brain due to the exchange between astrocytes and neurons that is disturbed during Huntington disease, a fatal neurodegenerative disease characterized by loss of voluntary motor control, psychiatric disturbances, and cognitive decline.
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