Therapeutic advances in rare disease最新文献

{"title":"Developing a pathway to clinical trials for <i>CACNA1A</i>-related epilepsies: A patient organization perspective.","authors":"Pangkong M Fox, Sunitha Malepati, Lisa Manaster, Elsa Rossignol, Jeffrey L Noebels","doi":"10.1177/26330040241245725","DOIUrl":"https://doi.org/10.1177/26330040241245725","url":null,"abstract":"<p><p>CACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic neurotransmission. The broad spectrum of CACNA1A-related neurological disorders includes developmental and epileptic encephalopathies, familial hemiplegic migraine type 1, episodic ataxia type 2, spinocerebellar ataxia type 6, together with unclassified presentations with developmental delay, ataxia, intellectual disability, autism spectrum disorder, and language impairment. The severity of each disorder is also highly variable. The spectrum of CACNA1A-related seizures is broad across both loss-of-function and gain-of-function variants and includes absence seizures, focal seizures with altered consciousness, generalized tonic-clonic seizures, tonic seizures, status epilepticus, and infantile spasms. Furthermore, over half of CACNA1A-related epilepsies are refractory to current therapies. To date, almost 1700 CACNA1A variants have been reported in ClinVar, with over 400 listed as Pathogenic or Likely Pathogenic, but with limited-to-no clinical or functional data. Robust genotype-phenotype studies and impacts of variants on protein structure and function have also yet to be established. As a result, there are few definitive treatment options for CACNA1A-related epilepsies. The CACNA1A Foundation has set out to change the landscape of available and effective treatments and improve the quality of life for those living with CACNA1A-related disorders, including epilepsy. Established in March 2020, the Foundation has built a robust preclinical toolbox that includes patient-derived induced pluripotent stem cells and novel disease models, launched clinical trial readiness initiatives, and organized a global CACNA1A Research Network. This Research Network is currently composed of over 60 scientists and clinicians committed to collaborating to accelerate the path to CACNA1A-specific treatments and one day, a cure.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"5 ","pages":"26330040241245725"},"PeriodicalIF":0.0,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11047245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140873881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.","authors":"Annelieke R Müller, Nadia Y van Silfhout, Bibiche den Hollander, Dick H C Kampman, Lianne Bakkum, Marion M M G Brands, Lotte Haverman, Caroline B Terwee, Carlo Schuengel, Joost Daams, David Hessl, Frits A Wijburg, Erik Boot, Agnies M van Eeghen","doi":"10.1177/26330040241245721","DOIUrl":"10.1177/26330040241245721","url":null,"abstract":"<p><strong>Background: </strong>Individuals with genetic neurodevelopmental disorders (GNDs) or intellectual disability (ID) are often affected by complex neuropsychiatric comorbidities. Targeted treatments are increasingly available, but due to the heterogeneity of these patient populations, choosing a key outcome and corresponding outcome measurement instrument remains challenging.</p><p><strong>Objectives: </strong>The aim of this scoping review was to describe the research on outcomes and instruments used in clinical trials in GNDs and ID.</p><p><strong>Eligibility criteria: </strong>Clinical trials in individuals with GNDs and ID for any intervention over the past 10 years were included in the review.</p><p><strong>Sources of evidence: </strong>MEDLINE, PsycINFO, and Cochrane CENTRAL were searched. Titles and abstracts were independently screened for eligibility with a subsample of 10% double-screening for interrater reliability. Data from full texts were independently reviewed. Discrepancies were discussed until consensus was reached.</p><p><strong>Charting methods: </strong>Information was recorded on patient populations, interventions, designs, outcomes, measurement instruments, and type of reporter when applicable. Qualitative and descriptive analyses were performed.</p><p><strong>Results: </strong>We included 312 studies reporting 91 different outcomes, with cognitive function most frequently measured (28%). Various outcome measurement instruments (<i>n</i> = 457) were used, with 288 in only a single clinical trial. There were 18 genetic condition-specific instruments and 16 measures were designed ad-hoc for one particular trial. Types of report included proxy-report (39%), self-report (22%), clinician-report (16%), observer-report (6%), self-assisted report (1%), or unknown (16%).</p><p><strong>Conclusion: </strong>This scoping review of current practice reveals a myriad of outcomes and outcome measurement instruments for clinical trials in GNDs and ID. This complicates generalization, evidence synthesis, and evaluation. It underlines the need for consensus on suitability, validity, and relevancy of instruments, ultimately resulting in a core outcome set. A series of steps is proposed to move from the myriad of measures to a more unified approach.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"5 ","pages":"26330040241245721"},"PeriodicalIF":0.0,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11047260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140869194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective.","authors":"Ryan Rogers-Hammond, Carrie Howell","doi":"10.1177/26330040241234932","DOIUrl":"10.1177/26330040241234932","url":null,"abstract":"<p><p>Maternal 15q11.2-13.1 duplication syndrome, or Dup15q syndrome (Dup15q), is a rare neurodevelopmental disorder affecting as many as 1 in 5000 to 1 in 20,000 children worldwide. Autism and seizures are two of the most commonly observed phenotypes in Dup15q, with intellectual disability, hypotonia, gastrointestinal distress, and substantial fine and gross motor deficits also commonly reported. The community that is now known as the Dup15q Alliance started in 1994 as a small group of families raising children with chromosome 15q duplications. Originally named IsoDicentric 15 Exchange, Advocacy and Support (IDEAS), the group received official nonprofit organization status 10 years later and rebranded to its current name, Dup15q Alliance, shortly thereafter. Today, there are over 2200 families affiliated with Dup15q Alliance, with an average intake of 10 new families each month. Historically, Dup15q Alliance has provided the community with access to family and caregiver resources in addition to serving as a repository for basic educational information about Dup15q and research developments. The recent installation of a dedicated director of scientific and clinical initiatives alongside other infrastructural changes has now primed the Dup15q Alliance to expand its scientific footprint by funding cutting-edge research, supporting clinical sites and trials, and investing in novel therapeutics that have the potential to change the reality of a Dup15q syndrome diagnosis. To do this, we have developed the <i>LEARN. TREAT. CURE.</i> program to align initiatives, fast-track progress, and bring hope and reality into coexistence. Briefly, we seek to <i>learn</i> as much as we can about the syndrome through cutting-edge research, natural history studies, and patient registry utilization, identify and develop methods to <i>treat</i> the symptoms of our patient community, with the ultimate goal of developing a <i>cure</i> for the disease-causing symptoms of the syndrome.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"5 ","pages":"26330040241234932"},"PeriodicalIF":0.0,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A United States-based patient-reported adult polyglucosan body disease registry: initial results.","authors":"Jacy Sparks, Francesco Michelassi, John L P Thompson, Richard Buchsbaum, Natacha Pires, Janet T DeRosa, Kristin Engelstad, Salvatore DiMauro, Hasan Orhan Akman, Michio Hirano","doi":"10.1177/26330040241227452","DOIUrl":"10.1177/26330040241227452","url":null,"abstract":"<p><strong>Background: </strong>Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene. Knowledge of the demographic and clinical characteristics of APBD patients and the natural history of the disease is lacking. We report here initial results from a patient-reported registry of APBD patients.</p><p><strong>Objectives: </strong>(1) Maximize the quality of the APBD Registry survey data; (2) provide an initial report on APBD disease progression and natural history using these data; and (3) specify next steps in the process for testing potential new therapies.</p><p><strong>Design: </strong>Data are from members of the APBD Research Foundation (New York), surveyed from 2014 by the Columbia APBD Patient/Family (CAP) Registry. Inclusion criteria are: disease onset at age 18+ and progressive clinical triad of peripheral neuropathy, spasticity, and neurogenic bladder.</p><p><strong>Methods: </strong>Genetic testing results were used when available. Respondents found to not have APBD in clinical records were excluded. All changes and exclusions were recorded in a database edit log. Results are reported in frequency tables, bar graphs, time plots, and heat maps.</p><p><strong>Results: </strong>The 96 respondents meeting inclusion criteria were predominantly (96.8%) White, highly educated (89.3% at least some college education), and mostly (85.1%) of Ashkenazi Jewish descent. 57.1% had at least one parent born in the United States, with at least one grandparent from Europe (excluding Russia; 75.4%), the United States (42.1%), or Russia (33.3%). 37.2% reported a family history of APBD, and 33.3% had an affected sibling. Median APBD onset age was 51 [Interquartile range (IQR) 11], and median age of diagnosis 57 (IQR 10.5). The 75 reported prior misdiagnoses were mainly peripheral neuropathy (43, 60.6%) and spinal stenosis (11, 15.1%).</p><p><strong>Conclusion: </strong>Although from a demographically constricted survey, the results provide basic clinical information for future studies to develop treatments for APBD.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"5 ","pages":"26330040241227452"},"PeriodicalIF":0.0,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10910880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140041103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Rare Diseases Clinical Research Network: a model for clinical trial readiness.","authors":"Joanne M Lumsden, Tiina K Urv","doi":"10.1177/26330040231219272","DOIUrl":"10.1177/26330040231219272","url":null,"abstract":"<p><strong>Background: </strong>The current road to developing treatments for rare diseases is often slow, expensive, and riddled with risk. Change is needed to improve the process, both in how we think about rare disease treatment development and the infrastructure we build to support ongoing science. The National Institutes of Health (NIH)-supported Rare Diseases Clinical Research Network (RDCRN) was established to advance the diagnosis, management, and treatment of rare diseases and to promote highly collaborative, multi-site, patient-centric, translational, and clinical research. The current iteration of the RDCRN intends to build upon and enhance successful approaches within the network while identifying innovative methods to fill gaps and address needs in the approach to the rare disease treatment development process through innovation, collaboration, and clinical trial readiness.</p><p><strong>Objective: </strong>The objective of this paper is to provide an overview of the productivity and influence of the RDCRN since it was first established 20 years ago.</p><p><strong>Design and methods: </strong>Using a suite of tools available to NIH staff that provides access to a comprehensive, curated, extensively linked data set of global grants, patents, publications, clinical trials, and FDA-approved drugs, a series of queries were executed that conducted bibliometric, co-author, and co-occurrence analysis.</p><p><strong>Results: </strong>The results demonstrate that the entire RDCRN consortia and network has been highly productive since its inception. They have produced 2763 high-quality publications that have been cited more than 100,000 times, expanded international networks, and contributed scientifically to eight FDA-approved treatments for rare diseases.</p><p><strong>Conclusion: </strong>The RDCRN program has successfully addressed some significant challenges while developing treatments for rare diseases. However, looking to the future and being agile in facing new challenges that arise as science progresses is important.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231219272"},"PeriodicalIF":0.0,"publicationDate":"2023-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10752072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139049904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The pharmacological treatment of granulomatosis with polyangiitis: a review of clinical trials registered in clinicaltrials.gov and the International Clinical Trials Registry Platform.","authors":"Janet Sultana, Nikita Camilleri, Salvatore Crisafulli, John Joseph Borg, Silvan Spagnol, Silvia Tillati, Joseph Borg","doi":"10.1177/26330040231213888","DOIUrl":"10.1177/26330040231213888","url":null,"abstract":"<p><p>To date, there is no published overview of the drug pipeline in granulomatosis with polyangiitis (GPA), a rare disease. The aim of this study was to identify clinical trials from two study repositories. A review of clinical trials was conducted using publicly available data. Clinicaltrials.gov and International Clinical Trials Registry Platform were searched from inception until 25 September 2022. Only GPA-specific studies were included; these were described in detail. A total of 137 studies were identified in the trial repositories, of which 108 (79%) studies were found to concern GPA. Of these 108 studies, 67 enrolled GPA patients to investigate pharmacotherapy in this disease (62%). Most studies included all severity types (<i>n</i> = 51; 76%); the scope of almost half of the studies was remission induction (<i>n</i> = 33; 49%). The drug class which was by the most widely investigated in trials was the non-corticosteroid immunosuppressant drug class (46; 68.7%), monoclonal antibodies (32; 47.8%), and corticosteroids (31; 46.3%). There is a need for more GPA trials to generate evidence on effectiveness in terms of severity-specificity and maintenance of remission.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231213888"},"PeriodicalIF":0.0,"publicationDate":"2023-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10729619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138815171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington's disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics.","authors":"Stephanie Feleus, Maaike van der Lee, Jesse J Swen, Raymund A C Roos, Susanne T de Bot","doi":"10.1177/26330040231204643","DOIUrl":"10.1177/26330040231204643","url":null,"abstract":"<p><strong>Background: </strong>Huntington's disease (HD) is a hereditary, neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms. Currently, HD can only be managed symptomatically, including a large variety of prescribed drugs. Many HD patients experience negative medication effects (e.g. side effects or non-response). Pharmacogenetic (PGx) studies show how genetic variation affects both medication efficacy and toxicity and holds the potential to improve these outcomes of drug treatment.</p><p><strong>Primary objective: </strong>To classify the effect of the PGx profile of CYP2C19 and CYP2D6 in HD gene expansion carriers on negative medication effects of HD-related medication.</p><p><strong>Design: </strong>Multicenter, observational study with 1-year follow-up. Adult HD gene expansion carriers who use one or more HD-related medications are eligible to participate.</p><p><strong>Methods and analysis: </strong>A detailed overview of medication use, medication efficacy, and side effects is retrospectively and prospectively collected <i>via</i> medication diaries, questionnaires, phone calls, and pharmacy medication verification schemes. PGx analysis on whole blood-extracted DNA is performed with Agena Bioscience VeriDose^® Core Panel and long-range polymerase chain reaction copy number variation analysis. Per the study protocol-defined negative medication effects in HD gene expansion carriers with a genotype predicted poor or ultrarapid metabolizer phenotype will be compared with HD gene expansion carriers with a predicted intermediate and normal metabolizer phenotype. Frequencies will be analyzed <i>via</i> χ² and logistic multivariate regression analysis. In addition, we summarize in this manuscript HD-relevant PGx prescription recommendations to improve drug therapy.</p><p><strong>Ethics: </strong>The original study protocol was approved by the medical research ethics committee Leiden Den Haag Delft on 26 November 2019.</p><p><strong>Discussion: </strong>HD-MED is a low-risk study that will generate personalized PGx results that can immediately be implemented in clinical practice, thus potentially improving pharmacovigilance and patients' quality of life.</p><p><strong>Registration: </strong>This study is registered in the International Clinical Trial Registry Platform under registration number NL8251, URL https://trialsearch.who.int/Trial2.aspx?TrialID=NL8251.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231204643"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89720976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Toward representative genomic research: the children's rare disease cohorts experience.","authors":"Zoë J Frazier, Eurnestine Brown, Shira Rockowitz, Ted Lee, Bo Zhang, Abigail Sveden, Nancy L Chamberlin, Kira A Dies, Annapurna Poduri, Piotr Sliz, Maya Chopra","doi":"10.1177/26330040231181406","DOIUrl":"10.1177/26330040231181406","url":null,"abstract":"<p><strong>Background: </strong>Due to racial, cultural, and linguistic marginalization, some populations experience disproportionate barriers to genetic testing in both clinical and research settings. It is difficult to track such disparities due to non-inclusive self-reported race and ethnicity categories within the electronic health record (EHR). Inclusion and access for all populations is critical to achieve health equity and to capture the full spectrum of rare genetic disease.</p><p><strong>Objective: </strong>We aimed to create revised race and ethnicity categories. Additionally, we identified racial and ethnic under-representation amongst three cohorts: (1) the general Boston Children's Hospital patient population (general BCH), (2) the BCH patient population that underwent clinical genomic testing (clinical sequencing), and (3) Children's Rare Disease Cohort (CRDC) research initiative participants.</p><p><strong>Design and methods: </strong>Race and ethnicity data were collected from the EHRs of the general BCH, clinical sequencing, and CRDC cohorts. We constructed a single comprehensive set of race and ethnicity categories. EHR-based race and ethnicity variables were mapped within each cohort to the revised categories. Then, the numbers of patients within each revised race and ethnicity category were compared across cohorts.</p><p><strong>Results: </strong>There was a significantly lower percentage of Black or African American/African, non-Hispanic/non-Latine individuals in the CRDC cohort compared with the general BCH cohort, but there was no statistically significant difference between the CRDC and the clinical sequencing cohorts. There was a significantly lower percentage of multi-racial, Hispanic/Latine individuals in the CRDC cohort than the clinical sequencing cohort. White, non-Hispanic/non-Latine individuals were over-represented in the CRDC compared to the two other groups.</p><p><strong>Conclusion: </strong>We highlight underrepresentation of certain racial and ethnic populations in sequencing cohorts compared to the general hospital population. We propose a range of measures to address these disparities, to strive for equitable future precision medicine-based clinical care and for the benefit of the whole rare disease community.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231181406"},"PeriodicalIF":0.0,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f5/a8/10.1177_26330040231181406.PMC10445838.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10069715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing diversity, equity, inclusion, and accessibility in eosinophilic gastrointestinal disease research: the consortium for eosinophilic gastrointestinal disease researchers' journey.","authors":"Mirna Chehade, Glenn Furuta, Amy Klion, J Pablo Abonia, Seema Aceves, Paroma Bose, Margaret H Collins, Carla Davis, Evan S Dellon, Grant Eickel, Gary Falk, Sandeep Gupta, Girish Hiremath, Amari Howard, Elizabeth T Jensen, Susamita Kesh, Paneez Khoury, Kendra Kocher, Ellyn Kodroff, Shay Kyle, NaDea Mak, Dawn McCoy, Pooja Mehta, Paul Menard-Katcher, Vincent Mukkada, Ally Paliana, Marc Rothenberg, Kathleen Sable, Cara Schmitt, Melissa Scott, Jonathan Spergel, Mary Jo Strobel, Joshua B Wechsler, Guang-Yu Yang, Amy Zicarelli, Amanda B Muir, Benjamin L Wright, Dominique D Bailey","doi":"10.1177/26330040231180895","DOIUrl":"10.1177/26330040231180895","url":null,"abstract":"<p><p>In response to the social inequities that exist in health care, the NIH-funded Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) recently formed a diversity committee to examine systemic racism and implicit bias in the care and research of eosinophilic gastrointestinal diseases (EGIDs). Herein, we describe our process, highlighting milestones and issues addressed since the committee's inception, which we hope will inspire other researchers to enhance diversity, equity, inclusion, and accessibility (DEIA) in their fields. Our journey began by establishing mission and vision statements to define the purpose of the committee. Regular discussion of diversity-related topics was incorporated into existing meetings and web-based materials were shared. This was followed by educational initiatives, including establishing a library of relevant publications and a speaker series to address DEIA topics. We then established a research agenda focused on the following actionable items: (1) to define what is known about the demographics of EGIDs by systematic review of population-based studies; (2) to develop a practical tool for reporting participant demographics to reduce bias in EGID literature; (3) to examine health disparities in the care of individuals with eosinophilic esophagitis who present to the emergency department with an esophageal food impaction; (4) to examine how access to a gastroenterologist affects the conclusions of published research examining the prevalence of pediatric eosinophilic esophagitis; and (5) to develop a model for examining the dimensions of diversity, and provide a framework for CEGIR's ongoing projects and data capture. In addition to promoting consciousness of DEIA, this initiative has fostered inclusivity among CEGIR members and will continue to inspire positive changes in EGID care and research.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231180895"},"PeriodicalIF":0.0,"publicationDate":"2023-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/97/1d/10.1177_26330040231180895.PMC10426297.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10355837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies.","authors":"Katherine L Beaverson, Daria Julkowska, Mary Catherine V Letinturier, Annemieke Aartsma-Rus, Jennifer Austin, Juan Bueren, Simon Frost, Misako Hamamura, Jane Larkindale, Greg LaRosa, Rita Magenheim, Annamaria Merico, Anna Maria Gerdina Pasmooij, Vinciane Pirard, Nicholas Ekow Thomford, Michihiko Wada, Durhane Wong-Rieger, Adam L Hartman","doi":"10.1177/26330040231188979","DOIUrl":"10.1177/26330040231188979","url":null,"abstract":"<p><strong>Background: </strong>The International Rare Diseases Research Consortium (IRDiRC) is an international initiative that aims to use research to facilitate rapid diagnosis and treatment of rare diseases.</p><p><strong>Objective: </strong>IRDiRC launched the Chrysalis Task Force to identify key financial and nonfinancial factors that make rare disease research and development attractive to companies.</p><p><strong>Methods: </strong>The Chrysalis Task Force was comprised of thought leaders from companies, patient advocacy groups, regulatory agencies, and research funders. The Task Force created a survey that was distributed to companies of different sizes with varied investment portfolios and interests in rare disease research. Based on the survey results, the Task Force then conducted targeted interviews.</p><p><strong>Results: </strong>The survey and interview respondents identified several factors that make rare disease research and development attractive (e.g. a good understanding of the underlying biology) as well as barriers (e.g. absence of an advocacy organization representing the affected community's needs). The concept of Return On Investment allowed the exploration of factors that were weighed differently by survey and interview respondents, depending on a number of intrinsic and extrinsic issues.</p><p><strong>Conclusions: </strong>The Chrysalis Task Force identified factors attributable to rare disease research and development that may be of interest to and actionable by funders, academic researchers, patients and their families, companies, regulators, and payers in the medium term to short term. By addressing the identified challenges, involved parties may seek solutions to significantly advance the research and development of treatments for rare diseases.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231188979"},"PeriodicalIF":0.0,"publicationDate":"2023-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1f/fb/10.1177_26330040231188979.PMC10387802.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10666607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}