Rare Disease

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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

Oral function should be measured routinely to determine individual bulbar involvement stages in spinal muscular atrophy (SMA).

SMA spinal muscular atrophy | Image Credit: © Rochu_2008 - stock.adobe.com
Protein Level Correlates With Pediatric SMA Severity, Treatment Response

October 17th 2024

SMA puzzle pieces | image credit: Dzmitry - stock.adobe.com
Muscle-Directed Therapy Apitegromab Meets Primary End Point in Phase 3 SAPPHIRE Trial of SMA

October 17th 2024

Child at pediatrician's office holding teddy bear | Image credit: VadimGuzhva – stock.adobe.com
Substantial Delays in Postapproval Pediatric Testing for New Drugs

October 7th 2024

Newborn screening can provide numerous benefits for infants who may have unknown conditions or complications | image credit: Peakstock - stock.adobe.com
5-Year Review Further Bolsters Support for Newborn SMA Screening

October 3rd 2024

Exploring the Implementation of Quality Care Programs for Patients with Myeloproliferative Neoplasms

Bruce Feinberg, DO; Kathy Oubre, Michael Reff, RPh, MBA; Jamile M. Shammo, MD; and Ruben Mesa, MD, discuss the incorporation of quality care programs for improved disease management and patient care for MPNs.

Exploring the Implementation of Quality Care Programs for Patients with Myeloproliferative Neoplasms peer exchange

More News

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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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

Jackie Syrop
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.
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November 13th 2018

Sanofi Pivotal Trial to Target Driver of Cyst Growth in PKD

Mary Caffrey
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

Jackie Syrop
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

Jackie Syrop
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

Kelly Davio
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

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.
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