Nih trial sickle cell ” Hear Juliana tell her story about how participating in a clinical trial saved her life. At the Initiative, we believe clinical trial participation is one of the most important ways we can move towards a future without sickle cell disease. Abstract Sickle cell disease (SCD) is one of the most common inherited blood disorders. These findings, published in the New England Journal of Medicine , further support the feasibility and therapeutic value of approaches targeting BCL11A, which suppresses The risk of recurrent stroke in untreated sickle cell anemia (SCA) is high, necessitating chronic transfusion therapy where resources allow. Given his interest in pursuing a career in medicine, he inquires about the possibility of getting involved in sickle cell research to help other sickle cell patients benefit from these therapies. N Engl J Med. Will these findings help in other areas of sickle cell research? Yes, these findings help advance the understanding of all forms of sickle cell disease, and the large health data networks we’re using are making that possible. Novel therapies for sickle cell disease (SCD), most notably genetic therapies (GT) and HLA-mismatched donor hematopoietic cell transplantation (HCT), are in clinical trials. About Clinical Trials Clinical trials are medical studies that help find safe and effective ways to prevent, detect, or treat diseases. These gene therapies were possible thanks to clinical trials that tested and continue to assess their safety and effectiveness. Babies’ red blood cells have a diferent type of hemoglobin, called Sickle cell disease (SCD) is the most common monogenic blood disorder marked by severe pain, end-organ damage, and early mortality. With an improved understanding of the pathophysiology of SCD as well Nov 2, 2023 · Other: US national principal investigator for the Phase 1 clinical trial pf AG-946 in patients with sickle cell disease. A number of disease-modifying therapies are currently available, yet long-term clinical benefits in rea … Oct 23, 2019 · Wednesday, October 23, 2019 NIH launches new collaboration to develop gene-based cures for sickle cell disease and HIV on global scale The NIH and the Bill and Melinda Gates Foundation are investing at least $200 million to develop accessible gene-based cures globally for sickle cell disease and HIV infection. Review of Randomized, Double-Blind Clinical Trials for Sickle Cell Disease Treatments The US Food and Drug Administration (FDA) recognizes four treatment options for preventing and alleviating complications associated with SCD: hydroxyurea (HU), voxelotor (Oxbryta/GBT440), L-glutamine, and crizanlizumab [5]. These findings are consistent with inhibition of HbS polymerization and indicate a disease-modifying potential. 17, 2021, out of an abundance of caution and concern for patient safety, the National Heart, Lung, and Blood Institute (NHLBI), part of NIH, placed an administrative hold on an NHLBI-funded trial at the Boston Children’s Hospital, the Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for Sickle Cell Disease . However, little is known … Dec 8, 2023 · Decades of basic research on sickle cell disease by scientists—including NIH-supported researchers— and selfless efforts by clinical trial participants have helped lay the groundwork for these novel genetic approaches. Feb 4, 2025 · The first patient has been enrolled in a Phase 1 trial by the NHLBI that's evaluating fostamatinib as a treatment for sickle cell disease. Beyond the historic context of research misconduct, little is known about the associations of social Abstract Background: Sickle Cell Disease (SCD) is an inherited blood disorder which results in serious morbidity and early mortality. Apr 24, 2025 · We present a prospective randomized, placebo-controlled trial of intravenous arginine in patients 3-21 years hospitalized with sickle cell disease vaso-occlusive pain episodes (SCD-VOE) at two tertiary-care children's hospitals. This trial was registered with Current Controlled Trials as ISRCTN80844630. Advances in genomic sequencing have increased the understanding of Hb regulation, and discoveries of molecular tools for genome modific … Feb 25, 2025 · HLA-haploidentical BMT is an accessible and potentially curative therapy for adults with sickle cell disease. The trial looks at the effects of an automated exchange blood transfusion on patient morbidity and mortality and compares them to the standard of care for high-risk adult patients with sickle cell disease. National Institute of Health (NIH) grants for A substantial number of planned clinical trials for sickle cell disease (SCD) have terminated early due to insufficient patient enrollment. is tested for sickle cell dis-ease at birth. [DOI] [PubMed] [Google Scholar] 7. The National Center for Complementary and Integrative Health (NC Jan 17, 2025 · Nicholas' story about participating in a clinical trial for sickle cell disease. Abstract Sickle cell disease (SCD) is a hereditary hemoglobinopathy resulting from a β-globin chain mutation that causes abnormal hemoglobin (HbS) polymerization and leads to severe complications. This report describes results from Part 1 of the Dec 4, 2018 · Media Advisory Tuesday, December 4, 2018 NIH researcher presents encouraging results for gene therapy for severe sickle cell disease What A scientist from the National Institutes of Health will present promising, early results from a human clinical trial testing a novel gene replacement therapy in people with severe sickle cell disease. Children don’t usually show symptoms until they’re between six and 12 months old, Thein explains. We explored motivations and decision-making processes of enrollees and Aug 31, 2023 · CRISPR-Cas9 disruption of the <i>HBG1</i> and <i>HBG2</i> gene promoters was an effective strategy for induction of fetal hemoglobin. It affects not only those of African descent, but also persons of Middle Eastern, Indian, Latin American and Mediterranean descent. Sep 19, 2017 · The trial participants spoke to a standing-room-only session at the Annual Sickle Cell Disease Clinical Research Meeting, hosted in August by the National Heart, Lung, Blood Institute (NHLBI), Division of Blood Diseases and Resources (DBDR). Stroke causes substantial morbidity in children with sickle cell disease. A subs … The STOP II trial evaluated whether prophylactic transfusion in patients with sickle cell disease and high risk of stroke can be safely halted after 30 months of treatment during which patients became low risk for stroke. ). Preliminary findings suggest that the approach has an Oct 29, 2021 · NIH Funding Opportunities and Notices in the NIH Guide for Grants and Contracts: HEAL Initiative: Pragmatic and Implementation Studies for the Management of Sickle Cell Disease Pain (UG3/UH3, Clinical Trials Optional) RFA-AT-22-004. It has received very little attention and even less research funding. We encourage you to use these educational materials Jul 25, 2022 · The primary aim of this trial is to determine the effectiveness of blood transfusion therapy for the prevention of silent strokes in children with sickle cell anemia. Voxelotor is approved for use in individuals with SCD age 4 years and older. Sep 9, 2024 · Thein’s team is now conducting a large phase 3 clinical trial of mitapivat at the NIH Clinical Center that began enrolling patients in May 2024, as well as a study tracking the long-term safety of the drug for sickle cell patients. Two additional Phase III studies and two pilot trials have been funded. Jan 6, 2025 · Slaying Sickle Cell Foundational Work at NIH and Today’s Transformative Treatments BY MICHAEL TABASKO, THE NIH CATALYST In 1958, biochemist Makio Murayama was recruited to the NIH to study sickle cell disease (SCD), then known as sickle cell anemia. This trial will also determine if blood transfusion therapy will prevent further cerebral injury and if the measured benefits of the therapy outweigh the risks associated with it. A multinational trial of prasugrel for sickle cell vaso‐occlusive events. Effect of poloxamer 188 vs placebo on painful vaso‐occlusive episodes in children and adults with sickle cell disease: a randomized clinical trial. John Tisdale arrived at NIH 30 years ago, there was no specific treatment for SCD. Voxelotor acts by increasing HbS oxygen affinity, decreasing anemia and hemolysis. These evidence-based guidelines of the American Society of Hematology are intended to support Jan 17, 2025 · Juliana was born with sickle cell anemia, a condition in which the body’s red blood cells are sickle-shaped. We conducted a pilot randomized controlled trial (RCT) to assess if it is feasible and safe to conduct an adequately powered … Sickle cell disease (SCD) research is hampered by disparities in participation due in part to mistrust of research among racial/ethnic minorities. Data Synthesis: Crizanlizumab is the first monoclonal antibody approved for sickle cell disease to reduce the frequency of vaso-occlusive crises. Most are Af-rican American. By adolescence, 20% of youth with SCD develop chronic SCD pain. (Funded by the National Heart, Lung, and Blood Institute and the National Cancer Institute; BMT CTN 1507; ClinicalT … A community-centered approach to sickle cell disease and clinical trial participation: an evaluation of perceptions, facilitators, and barriers Abstract Data from a small trial in patients with cancer suggest that isoquercetin (IQ) treatment lowered thrombosis biomarkers and prevented clinical thrombosis, but, to our knowledge, no studies of IQ have been conducted to target thromboinflammation in adults with sickle cell disease (SCD). About 100,000 Americans live with this debilitating disease; millions are afflicted worldwide. Famously, he constructed a meticulous three-foot-tall 3D model of a hemoglobin protein in his home basement laboratory to work out the molecular Dec 8, 2023 · NIH funds the Cure Sickle Cell Initiative to help speed the development of cures for sickle cell disease, which takes advantage of the latest genetic discoveries and technological advances to move the most promising genetic-based curative therapies safely into clinical trials. This qualitative study examines decision-making processes of youth with SCD and their caregivers regarding enrollment in clinical trial research. Notably Mar 20, 2025 · This study aimed to explore the barriers and facilitators to an inpatient clinical trial of ketamine infusion for treatment of acute SCD pain. These medications represent People with sickle cell disease frequently use complementary and integrative therapies to cope with their pain, yet few studies have evaluated their effectiveness. Inhaled nitric oxide (NO) has shown evidence of efficacy in mouse models of sickle cell disease (SCD), case series of patients with acute chest syndrome, and 2 small placebo-controlled trials for treatment of vaso-occlusive pain crisis (VOC). The Initiative builds on NHLBI’s broader sickle cell disease research investment that aims to improve the lives of patients. Approximately half (n=12) have practiced as a SCD provider for 15 or fewer years and reported being a Hematologist. 1001/jamainternmed. Autologous HSCT with gene therapy has the potential to overcome many of the limitations of allogeneic HSCT that include the lack of suitable donors, graft-versus-host disease, the need for immune suppression, and the Sep 16, 2021 · Gene therapy as a potential cure for sickle cell disease (SCD) has long been pursued, given that this hemoglobin (Hb) disorder results from a single point mutation. Preliminary results are expected within three to five years. Hemoglobin S polymerization within deoxygenated RBCs contributes to hemolysis, anemia, vaso-occlusion, and end-organ damage. Eliminating these acute pain events is a key outcome in SCD clinical trials; however, the definition of a vaso-occlusive crisis (VOC) or a vaso-occlusive event (VOE) has not been consistently applied, hampering comparisons of treatment efficacy between different Participant Responses to Questions about Sickle Cell Disease Clinical Trial Participation and Engagement 3. Abstract Sickle cell disease (SCD) is the most common inherited blood disorder worldwide, impacting millions and imposing severe healthcare challenges, particularly in resource-limited regions. The comparative Feb 22, 2021 · On Feb. These educational materials are for informational purposes only. This systematic review has identified the need for well-designed, randomised con … Apr 4, 2012 · Stroke is a devastating complication of sickle cell anemia (SCA) with high recurrence if untreated. … Acute chest syndrome (ACS) is a major complication in patients with sickle cell disease (SCD), attributing to up to 25% of mortality. Dec 12, 2021 · The NIH is one of 11 nationwide clinical trial sites involved in the gene therapy study. Patients admitted with VOEs are often initially resuscitated with normal saline (NS) to improve concurrent hypovolemia, despite preclinical evidence that NS may promote erythrocyte sickling. Casella JF, Barton BA, Kanter J, et al. Yates:Agios Pharmaceuticals Inc. Only two drugs, hydroxyurea and L-glutamine, are approved for this disease. Barely four years later, the ensuing therapy, branded as Casgevy, received a … Mar 13, 2025 · Pain is the hallmark symptom of sickle cell disease (SCD). The 3-arm, 3-site pragmatic Hybrid Effectiveness-implementation Trial of Guided Relaxation Sep 25, 2024 · That way they can see sickle cell disease specialists before they begin developing complications as adults. We report results of seven patients treated in a first-in-human phase 1/2 study for sickle cell disease using reduced-intensity co … Stroke prevention guidelines for sickle cell anemia (SCA) recommend transcranial Doppler (TCD) screening to identify children at stroke risk; however, TCD screening implementation remains poor. Aug 8, 2019 · In this phase 3 randomized, placebo-controlled trial involving participants with sickle cell disease, voxelotor significantly increased hemoglobin levels and reduced markers of hemolysis. Stroke With Transfusions Changing to Hydroxyurea Sep 6, 2022 · The National Institutes of Health (NIH) Helping to End Addiction Long-term® Initiative, or NIH HEAL Initiative®, has released two funding opportunity announcements (FOAs) to support large-scale clinical trials on sickle cell disease (SCD) pain management. Acute chest syndrome (ACS) is a major complication in patients with sickle cell disease (SCD), attributing to up to 25% of mortality. In the first multicenter randomised double-blinded trial in very young children with SCA, the Jan 18, 2023 · Background: People with sickle cell disease frequently use complementary and integrative therapies to cope with their pain, yet few studies have evaluated their effectiveness. Jan 23, 2025 · Rigel enrols first subject in Phase I sickle cell disease therapy trial The trial is being conducted at the NIH Clinical Center in Bethesda, Maryland. (CLIMB SCD-121; ClinicalTrials. Jan 9, 2024 · Data from a small trial in patients with cancer suggest that isoquercetin (IQ) treatment lowered thrombosis biomarkers and prevented clinical thrombosis, but, to our knowledge, no studies of IQ have been conducted to target thromboinflammation in adults with sickle cell disease (SCD). Individuals with sickle cell disease (SCD) often require central venous catheter (CVC) use; however, this is associated with a high incidence of venous thromboembolism (VTE). He felt compelled to change that. 4435. Apr 10, 2023 · Background: Sickle cell disease (SCD) is an autosomal recessive red blood cell (RBC) disorder caused by a single point mutation in the β-globin gene, resulting in the production of hemoglobin S. Next, we review the use of this measure in SCD using several tools validated for use in this disease and underscore the importance of incorporating PROs into sickle cell trials either as a primary or secondary outcome measure and to enhance the clinical care of patients with SCD [6 – 8]. To identify feasible alternative therapy for children with SCA in resource-limited areas, Abdullahi and colleagues undertook a randomized, double-blind trial of 2 fixed-dose regimens of hydroxyurea. 2016;374 (7):625‐635. But every baby born in the U. … Autologous transplantation of gene-modified cells for treatment of sickle cell disease has involved myeloablative conditioning with associated cytopenias and toxicities. So during his fellowship training in hematology, he became easy friends with a researcher who was focusing on SCD. The Hybrid Effectiveness-implementation Trial of Guided Relaxation and Acupuncture for Chronic Sickle Cell Disease Pain (GRACE Trial) is one of the 27 Demonstration Projects that are part of the NIH Pragmatic Trials Collaboratory, the resource coordinating center for the Pragmatic and Implementation Studies for the Management of Pain (PRISM) to Abstract To address the global burden of sickle cell disease (SCD) and the need for novel therapies, the American Society of Hematology partnered with the US Food and Drug Administration to engage the work of 7 panels of clinicians, investigators, and patients to develop consensus recommendations for clinical trial end points. Advances in genomic sequencing have increased the understanding of Hb regulation, and discoveries of molecular tools for genome modific … After lower-than-expected recruitment during the first 6 months of the Engaging Parents of Children with Sickle Cell Anemia and their Providers in Shared-Decision-Making for Hydroxyurea trial, a multi-site study for young children with sickle cell disease, we collected data to understand barriers and used the Consolidated Framework for Sickle cell disease (SCD) is an orphan disease in the United States, but is highly prevalent worldwide. Methods: A mixed-methods design integrated quantitative survey data from 70 sickle cell and emergency medicine clinicians with qualitative insights from 10 patient focus group participants. The monogenic nature of the disease and the availability of autologous hematopoietic stem cells (HSCs) make this disorder an ideal candidate for gene modification strategies. Current treatments have variable efficacy and require lifelong adherence. The National Heart, Lung, and Blood Institute, part of the National Institutes of Health, is partnering with researchers through CureSCi. Our randomized controlled trial found significant reductions in pain in youth receiving digital cognitive-behavioral therapy (CBT) vs education control. 2. Oct 5, 2023 · Sickle cell disease (SCD) is a hemoglobin disorder and the most common genetic disorder that affects 100,000 Americans and millions worldwide. One phase 2 clinical trial and a post hoc analysis of the trial have been published. Adverse events were those anticipated from this procedure, including GVHD. The NHLBI-led Initiative is funding clinical research trials that use gene therapy to cure sickle cell disease. 4 days ago · Sickle cell disease, sleep disorders and lung cancer: these are just a few of the medical issues that were under investigation in at least 383 clinical trials that have had research grants 5 days ago · Topline results from the RISE UP phase 3 trial demonstrated that mitapivat significantly improved hemoglobin response in patients with sickle cell disease. We conducted a … Jun 20, 2025 · With gene therapy in the works, clinical trials for sickle cell disease still lack Black American participants. gov were incorporated in the reviewed data. There are only four FDA approved drugs to reduce acute complications. Treatment options for SCD remain very limited. It slows or blocks blood flow to parts of the body, causing intense pain called “crisis. Mitapivat, a first-in-class, oral, allosteric activator of pyruvate kinase, improves red blood cell survival by increasing ATP and diminishes sickling by decreasing 2,3-diphosphoglycerate. Phase 3 trials demonstrated an increase in hemoglobin Mar 20, 2025 · This study aimed to explore the barriers and facilitators to an inpatient clinical trial of ketamine infusion for treatment of acute SCD pain. Autologous HSCT with gene therapy has the potential to overcome many of the limitations of allogeneic HSCT that include the lack of suitable donors, graft-versus-host disease, the need for immune suppression, and the Jun 20, 2024 · In the setting of a learning collaborative, we conducted an international multicenter phase 2 clinical trial testing the hypothesis that nonmyeloablative-related haploidentical bone marrow transplant (BMT) with thiotepa and posttransplant cyclophosphamide (PTCy) will result in 2-year event-free surv … Mar 27, 2025 · Abstract Introduction: Patients with sickle cell disease (SCD) experience recurrent, severe pain events due to vaso-occlusion. Please email your comments or questions to DemocratizingEd@mail. About 100,000 people in the U. Rates of recurrence have been reduced from 46-90% to less than 10% through chronic blood transfusions. “I’ve been interested in sickle cell The Stroke Prevention Trial in Sickle Cell Anemia (STOP) reported a reduction in the number of overt clinical strokes experienced by those children with critically high transcranial Doppler velocities (>200 centimeters per second) who were chronically transfused. The effects have been divided into four areas/targets as shown for the sake of discussion in the text. Mitapivat, an oral pyruvate kinase (PK) activator, has therapeutic potential by increasing adenosine triphosphate (ATP) and decreasing 2,3-dipho … In July 2019, Victoria Gray became the first patient with sickle cell disease to receive a CRISPR-based cell therapy as a volunteer in the exa-cel clinical trial, sponsored by Vertex Pharmaceuticals and CRISPR Therapeutics. live with sickle cell disease. Following a review of the recommendation of the NHLBI Jul 25, 2022 · Given large absolute numbers of individuals with sickle cell disease in Nigeria, hydroxyurea therapy for all individuals with sickle cell disease may not be initially feasible; however, a targeted strategy of hydroxyurea use for primary prevention of strokes is an alternative to the standard therapy (observation) for high-risk individuals. 4 days ago · A new oral treatment, mitapivat, for sickle cell disease (SCD) significantly boosted hemoglobin levels in patients over a year, achieving one of the primary goals of a Phase 3 clinical trial. 2024 Nov 1;184 (11):1372-1373. Infusion of autologous OTQ923 into three participants with severe sickle cell disease resulted in sustained induction of red-cell fetal hemoglobin and clinical improv … Mechanisms of action of drugs under evaluation in human clinical trials. The findings of this trial, which need to be verified in a large multicenter study, suggest that omega-3 fatty acids can be an effective, safe, and affordable therapy for sickle cell anemia. Sickle cell disease (SCD) is a common hereditary blood disorder that profoundly impacts individuals’ health, causing chronic pain, anemia, organ damage, increased susceptibility to infections, and social and psychological effects. To Study Selection/Data Extraction: All studies registered on clinicaltrials. A consortium of 14 clinical centers conducted a randomized clinical trial (Stroke Prevention in Sickle Cell Anemia--the "STOP" study) to test a strategy to prevent first stroke in children with sickle cell disease. Adults living with SCD have pain so severe that it often requires opioids to keep it in control. Nov 21, 2022 · This frequently asked questions document includes questions and answers compiled to help researchers interested in a new National Institutes of Health (NIH) funding opportunity announcement (FOA) that solicits phased cooperative research applications to conduct clinical effectiveness research on the management of acute and/or chronic sickle cell disease (SCD) pain and ways to reduce reliance Central nervous system (CNS) complications are among the most common, devastating sequelae of sickle cell disease (SCD) occurring throughout the lifespan. Allogenic hematopietic stem cell transplantation is the only known cure for the disease with high success rates but the Dec 12, 2024 · The Democratizing Education Project welcomes your feedback about the sickle cell disease gene therapy resources. The 3-arm, 3-site pragmatic Hybrid Effectiveness-implementation Trial of Guided Relaxation and Acupuncture for Chronic Sickle Cell Disease Pain (GRACE) has 3 priorities: (1) evaluate guided relaxation and acupuncture to Sickle cell disease (SCD) is an orphan disease in the United States, but is highly prevalent worldwide. Prevention of first stroke, however, would be preferable because even one stroke can cause irre … Apr 24, 2024 · Sickle cell disease is an autosomal recessive disorder caused by a single point variant in HBB, encoding β-globin, that results in the production of hemoglobin S. NCCIH Dec 10, 2019 · Abstract To address the global burden of sickle cell disease (SCD) and the need for novel therapies, the American Society of Hematology partnered with the US Food and Drug Administration to engage the work of 7 panels of clinicians, investigators, and patients to develop consensus recommendations for clinical trial end points. The panels conducted their work through literature reviews Nov 1, 2024 · Importance: Sickle cell disease (SCD), a clinically heterogenous genetic hemoglobinopathy, is characterized by painful vaso-occlusive episodes (VOEs) that can require hospitalization. One hundred years later we know that the sickle-shaped cells are due to a defect in hemoglobin, the protein in red blood cells that carries oxygen throughout the body. Dec 8, 2023 · NIH leads The Democratizing Education for Sickle Cell Disease Gene Therapy Project, a collaborative effort that aims to help patients and their support networks navigate emerging developments in gene therapies for sickle cell disease. 1,2 Clinically, sickle cell Jan 17, 2025 · Juliana was born with sickle cell anemia, a condition in which the body’s red blood cells are sickle-shaped. Thus, no objective conclusions or recommendations in practice can be made on gene therapy for sickle cell disease. Sickle cell disease (SCD) research is hampered by disparities in participation due in part to mistrust of research among racial/ethnic minorities. These medications represent Background: The laboratory and clinical benefits of hydroxyurea therapy for children with sickle cell anemia (SCA) are well recognized, but treatment in young patients is limited in part by concerns about long-term genotoxicity, and specifically possible carcinogenicity. May 9, 2024 · Treatment with exa-cel eliminated vaso-occlusive crises in 97% of patients with sickle cell disease for a period of 12 months or more. In this Plenary Paper, the authors provide evidence that Mar 21, 2025 · Funding: The trial is supported by the California Institute for Regenerative Medicine (CIRM), and NIH Cure Sickle Cell Initiative, National Heart, Lung, and Blood Institute (NHLBI). Nov 1, 2024 · Charting the Waters of Sickle Cell Disease With Target Trial EmulationJAMA Intern Med. Data obtained were to inform an implementation blueprint for an effectiveness implementation clinical trial (GRACE Trial) testing whether acupuncture or guided relaxation reduces Frequently Asked Questions: HEAL Initiative: Sickle Cell Disease Pain Management Trials Utilizing the Pain Management Effectiveness Research Network Cooperative Agreement (UG3/UH3, Clinical Trial Required) General Terms and Definitions Research Proposal Questions Programmatic Questions Research Interests of Institutes and Centers Polymerization of HbS and cell sickling are the prime pathophysiological events in sickle cell disease (SCD). Over the last 30 years, a substantial understanding at the molecular level has been acquired on how a single amino acid change in the structure A prospective diary study of stuttering priapism in adolescents and young men with sickle cell anemia: report of an international randomized control trial—the Priapism in Sickle Cell Study. Through this initiative, NHLBI seeks to support the development of cell and genetic therapies resources, clinical trials, comparator analyses of different management strategies, data repositories and resources, and patient and advocate engagement activities related Jan 6, 2025 · Slaying Sickle Cell Foundational Work at NIH and Today’s Transformative Treatments BY MICHAEL TABASKO, THE NIH CATALYST In 1958, biochemist Makio Murayama was recruited to the NIH to study sickle cell disease (SCD), then known as sickle cell anemia. Dec 10, 2021 · Patients with sickle cell disease (SCD) have significant impairment in their quality of life across the life span as a consequence of serious disease burden with several SCD-related complications. To describe attitudes towards clinical trials among a sample of adults with SCD and identify patient-level Nov 30, 2020 · No randomised or quasi-randomised clinical trials of gene therapy for sickle cell disease were reported. Providers A total of 22 medical providers participated in the interviews. . When Dr. Oct 29, 2021 · NIH Funding Opportunities and Notices in the NIH Guide for Grants and Contracts: HEAL Initiative: Sickle Cell Disease Pain Management Trials Utilizing the Pain Management Effectiveness Research Network Cooperative Agreement (UG3/UH3, Clinical Trial Required) RFA-AT-22-005. Stroke occurs in 7-8% of children with Sickle Cell Disease (Hb SS) and is a major cause of morbidity. Besides the acute morbidity and mortality, chronically impaired lung function in patients with Flow diagram of systematic review selection criteria. The purpose of this Notice is to allow potential applicants sufficient time to develop meaningful collaborations among investigators with expertise in sickle cell disease, health disparities, pain management, pragmatic clinical trials, implementation trials, and methods to improve adherence to evidence-based medical guidelines. Over the years, Jun 21, 2024 · People with sickle cell disease (SCD) commonly describe the pain as feeling as though shards of glass are moving through their veins. Participants were randomized into 1 of 3 arms: Standard-dose (SD; 100 m … Sep 30, 2024 · Sickle cell disease is an inherited blood disorder that affects hemoglobin, the protein that carries oxygen through the body. Notably Clinical trial research forms the foundation for advancing treatments; yet, children with sickle cell disease (SCD) are currently underrepresented. Sickle cell disease (SCD) is one of the most common life threatening monogenic diseases affecting millions of people worldwide. nih. Sep 4, 2017 · Staff clinician, NIH Clinical Center, physician scientist His story: Mathew Hsieh always liked blood—or at least the study of it. Current treatment options primarily focus on symptom management, with limited curative potential. Sickle cell anaemia (SCA) is associated with significant morbidity from acute complications and organ dysfunction beginning in the first year of life. NIH Funding Opportunities and Notices in the NIH Guide for Grants and Contracts: Research Network to Promote Multidisciplinary Mechanistic and Translational Studies of Sickle Cell Disease Pain (U24, Clinical Trial Optional) RFA-AT-24-001. Aug 23, 2024 · The Sickle Cell Disease and Cardiovascular Risk — Red Cell Exchange (SCD–CARRE) trial is testing monthly automated exchange transfusions as a strategy to reduce serious complications of sickle cell disease, improve symptoms, and prevent hospitalization and death. Mitapivat, an oral pyruvate kinase (PK) activator, has therapeutic potential by increasing adenosine triphosphate (ATP) and decreasing 2,3-dipho … Dec 8, 2023 · Decades of basic research on sickle cell disease by scientists—including NIH-supported researchers— and selfless efforts by clinical trial participants have helped lay the groundwork for these novel genetic approaches. The age that providers thought most SCD patients become fully aware of their diagnosis Oct 7, 2021 · The NIH HEAL Initiative has released notices of two upcoming funding opportunity announcements (FOAs) to support large-scale clinical trials on sickle cell disease (SCD) pain management. gov number, NCT03745287. The only cure is a blood and bone marrow transplant, but treatments are available to manage the condition. Abbreviations: sRBC, sickle red blood cells; HbS Dec 5, 2020 · An experimental gene therapy targeting the BCL11A gene safely increases fetal hemoglobin levels and prevents complications in six people with severe sickle cell disease, according to interim data from a Phase 1 clinical trial. Deoxygenated hemoglobin S (HbS) polymerizes and causes anemia and various end organ effects. doi: 10. 2024. Shown is a summary of the major cellular, vascular and system mechanisms by which FDA-approved and other drugs improve the clinical severity of sickle cell disease. We would like to show you a description here but the site won’t allow us. Recently, Casgevy, the first CRISPR/Cas9-based gene therapy for SCD, has received breakthrough FDA Sep 13, 2018 · NIH spends approximately $100 million on sickle cell disease research each year. S. Allogeneic Hematopoietic Stem Cell Transplantation can be curative but comes with significant side effects and limited donor Dec 26, 2023 · Targeting the primary pathogenic event of sickle cell disease (SCD), the polymerization of sickle hemoglobin (HbS), may prevent downstream clinical events. Abstract Background: Sickle cell disease, a debilitating, inherited haemolytic anaemia with premature morbidity and mortality, affects millions globally. 1 The pneumonia‐like complication frequently coincides with hospitalization for vaso‐occlusive crisis (VOC) and occurs in approximately 50% of SCD patients. While potentially curative, these interventions are some of the most intensive Abstract Sickle cell disease (SCD) is potentially curable after allogeneic hematopoietic stem cell transplantation (HSCT) or autologous HSCT after ex vivo genetic modification. Background Potentially curative but high-risk trials of gene therapy or stem cell transplantation (PBSCT) for Sickle Cell Disease (SCD) pose new opportunities for adults with SCD, many of whom experience significant disease burden and complications with few treatment options, as well as stigma and disparities in care. Misshapen red blood cells can block blood flow causing lifelong health problems. They are meant to promote your general understanding of gene therapy for sickle cell disease. Under a Cooperative Research and Development Agreement (CRADA), the NHLBI is collaborating with Bluebird Bio using the company’s investigational agent LentiGlobin™ to explore the viability of gene therapies for sickle cell disease. Hsieh decided it was a worthwhile pursuit and has dedicated most of his career to bridging the divide between researchers and the sickle cell Objective: This study aimed to explore perspectives of people living with sickle cell disease (SCD) and SCD clinic providers and staff about the use of acupuncture and guided relaxation for treating chronic SCD pain. The investigators propose a feasibility study, Sickle Dec 8, 2023 · Abstract Sickle cell disease (SCD) is potentially curable after allogeneic hematopoietic stem cell transplantation (HSCT) or autologous HSCT after ex vivo genetic modification. Through this initiative, NHLBI seeks to support the development of cell and genetic therapies resources, clinical trials, comparator analyses of different management strategies, data repositories and resources, and patient and advocate engagement activities related Mar 12, 2019 · Jennelle Stephenson, 28, who was born with sickle cell disease, shared her experience of recovery after receiving genetic treatment as part of an NIH clinical trial that might hold the key to a cure of this disease. About UCSF Benioff Children’s Hospitals Dec 10, 2019 · The American Society of Hematology (ASH) convened 5 guideline panels to develop clinical practice recommendations addressing 5 management areas of highest importance to individuals living with sickle cell disease: pain, cerebrovascular complications, pulmonary and kidney complications, transfusion, …. Sep 10, 2020 · NOTES: There are also psychosocial behavioral interventions and holistic approaches to treat sickle cell disease (see Chapter 4) and additional clinical trials on transplants. This helps doctors start treatment as early as possible. gov. : Current Employment, Current equity holder in publicly-traded company. Chronic transfusions reduce recurrent strokes but have associated morbidities including iron overload. Depression is a major global public health concern associate … The Economic Burdens of SCD Sickle cell disease is a global disease affecting millions of people worldwide and hundreds of thousands in the US. The NHLBI-funded clinical trial Sickle Cell Disease and Cardiovascular Risk-Red Cell Exchange phase 3 trial begins recruiting. A genetic alteration in the hemoglobin molecule causes the body to produce misshapen red blood cells, many of which take the characteristic “C”-shape that is the hallmark of sickle cell disease. Abstract Sickle cell disease (SCD) is an inherited blood disorder, due to a single point mutation in the β-globin gene (HBB) leading to multisystemic manifestations and it affects millions of people worldwide. 3. Objectives {7} Given the urgent need to develop disease-modifying therapies for SCD-VOE and the promising results from smaller trials of arginine therapy, the Sickle Cell Disease Treatment with Arginine Therapy (STArT) Trial aims to provide definitive evidence regarding the potential efficacy of intravenous arginine to treat SCD-VOE among children.