Therapeutic advances in rare disease最新文献

{"title":"Bulbar conjunctival plexiform schwannoma in a 5-year-old patient; expect the unexpected!","authors":"Mona Kenani,&nbsp;Rafaa Babgi,&nbsp;Sultan Bakri","doi":"10.1177/26330040231178321","DOIUrl":"https://doi.org/10.1177/26330040231178321","url":null,"abstract":"<p><p>Rare, atypical ophthalmological conditions in adults include bulbar conjunctival plexiform schwannomas, which are usually asymptomatic. Few case reports in the literature indicate the presence of orbital/conjunctival schwannomas in adult patients and, rarely, among children under the age of 12. We report a case of a 5-year-old girl who presented in an outpatient clinic with inferior temporal conjunctival nonpigmented cystic lesion of a 10 × 10 mm size. Upon examination, we could not identify a feeding vessel. The mass was mobile and not fixed to the sclera. The history indicated a 1-year duration but the mass in the left eye had progressively increased in size during the last 2 months prior to presentation. There was no traumatic injury or past history of ophthalmic surgery. Surgical excision of the cyst was sucessfully performed, and histopathological examination confirmed bulbar conjunctival plexiform schwannoma diagnosis. Upon regular follow-up evaluation, there was no evidence of recurrence or malignant transformation. Although it is extremely rare to encounter conjunctival schwannomas in children, it should be considered in ovoidal well-circumscribed orbital swellings, particularly those that appear with no history of trauma or surgery to the eye. Surgical excision is effective and safe therapeutic intervention.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231178321"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/51/8a/10.1177_26330040231178321.PMC10285596.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10072655","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 novel case of homozygous PAX1 mutation associated with hypoparathyroidism.","authors":"Benjamin L Hamel,&nbsp;Seema Kumar,&nbsp;Leah Heidenreich,&nbsp;Avni Joshi,&nbsp;Christiana DaSilva,&nbsp;Faizal Z Asumda","doi":"10.1177/26330040231158776","DOIUrl":"https://doi.org/10.1177/26330040231158776","url":null,"abstract":"<p><p>The PAX1 gene plays an important role in the development of the parathyroid glands and the thymus. Mouse knockout models of PAX1, PAX3, and PAX9 have been found to have hypoplastic or absent parathyroid glands. To our knowledge, there are no reported cases of PAX1-associated hypoparathyroidism in humans. We present a case of hypoparathyroidism in a 23-month-old boy with a homozygous pathogenic variant in the PAX1 gene (<i>PAX1</i> NM_006192.5 c.463_465del variant), predicted to cause an in-frame deletion of asparagine at position 155 (p.Asn155del) of the PAX1 protein. The hypoparathyroidism was unmasked after the patient developed significant hypocalcemia while receiving GoLYTELY (polyethylene glycol 3350, sodium sulfate anhydrous, sodium bicarbonate, sodium chloride, potassium chloride) for bowel cleanout. The patient had mild and asymptomatic hypocalcemia prior to hospitalization. The patient was noted to have inappropriately normal parathyroid hormone (PTH) level at the time of documented hypocalcemia thereby suggesting a diagnosis of hypoparathyroidism.</p><p><strong>Plain language summary: </strong><b>The first human case of hypoparathyroidism associated with a rare genetic disorder: a case report of PAX1 gene mutation</b> The paired box (<i>PAX</i>) gene family is important for embryo development. One subfamily, PAX1, is necessary for development of the spinal column, thymus (important for the immune system development), and parathyroid (helps regulate the amount of calcium in the body). We present the case of a 23-month-old boy with known PAX1 gene mutation who came in with episodes of vomiting and poor growth. His presentation was thought to be most likely related to constipation. He was started on bowel cleanout medication and intravenous fluids. However, his calcium that had been mildly low subsequently dropped to very low levels. The level of parathyroid hormone (which helps regulate calcium levels) was inappropriately normal, meaning that his body was unable to make more, and was consistent with hypoparathyroidism. He was treated with calcium supplements and vitamin D and calcium levels normalized. He continues to be on calcium and vitamin D and calcium levels have remained stable. Doctors should keep this complication in mind when treating patients with PAX1 gene mutation.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231158776"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9c/c4/10.1177_26330040231158776.PMC10184197.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9486506","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":"Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review.","authors":"Iwens Moreira de Faria,&nbsp;Augusto Machado de Souza,&nbsp;Luiz Rodrigues Pereira Júnior,&nbsp;Gabriel Gomes Vieira Ribeiro Leite","doi":"10.1177/26330040231184484","DOIUrl":"https://doi.org/10.1177/26330040231184484","url":null,"abstract":"<p><p>Persistent Mullerian Duct Syndrome (PMDS) is an extremely rare disease with less than 300 cases recorded in medical literature. Our patient was a 37 year old male who presented at the medical office with hematospermia as his sole complaint. He had previously undergone left orchidopexy and presented with hypotrophic left testicle and right testicle agenesis. PMDS differential was considered with the clear observation of a uterus-like structure during pelvic ultrasonography. The organs were later studied in magnetic resonance imaging and confirmed by post-surgery anatomopathological examination. Patient was discharged 24 h after surgery and developed azoospermia post-surgery.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231184484"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2c/b1/10.1177_26330040231184484.PMC10331220.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9817927","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":"26th Annual Symposium of the United Mitochondrial Disease Foundation -Mitochondrial Medicine 2023 – Abstracts","authors":"","doi":"10.1177/26330040231199665","DOIUrl":"https://doi.org/10.1177/26330040231199665","url":null,"abstract":"Open accessAbstractFirst published online October 9, 202326th Annual Symposium of the United Mitochondrial Disease Foundation -Mitochondrial Medicine 2023 – Abstracts*All Articleshttps://doi.org/10.1177/26330040231199665","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136201878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A multidisciplinary approach to treating a unique case of recurrent metastatic thymic carcinoma: case report.","authors":"Carol Wang,&nbsp;David Erick Elkowitz,&nbsp;Michael John Esposito,&nbsp;Rakesh Dinesh Shah,&nbsp;Henry Tannous,&nbsp;Maria-Louise Barilla-Labarca,&nbsp;Nagashree Seetharamu","doi":"10.1177/26330040231190661","DOIUrl":"https://doi.org/10.1177/26330040231190661","url":null,"abstract":"<p><p>Thymic carcinoma (TC) is a rare and aggressive malignancy of the thymus associated with less than 25% 5 years survivability. Our case report showcases the successful treatment of advanced metastatic TC using a multidisciplinary approach and the utility of checkpoint inhibitors in treatment of recurrent TC. A 50-year-old man presented with Raynaud's phenomenon and was found to have a stage IVb TC (T3N2M0). Eight months after management with neoadjuvant chemotherapy, surgical resection and adjuvant chemoradiotherapy, patient was diagnosed with metastasis of TC to the liver and a concurrent stage III (T2N1M0) primary sigmoid colon adenocarcinoma. Following complete resection of the colon adenocarcinoma, the patient started palliative-intent treatment for TC with pembrolizumab given PD-L1 tumor proportionate score of 100%. This resulted in a sustained complete response for 38 months. Our patient did have immune-related adverse events involving multiple organs but was able to continue pembrolizumab for a standard treatment duration of 2 years with multidisciplinary care. When recurrent disease was noted in a portocaval lymph node, pembrolizumab was reinitiated and a second complete response was achieved. The patient has maintained that complete response while maintaining an acceptable quality of life, showing that treatment with pembrolizumab is effective in patients after discontinuation with prior immunotherapy.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231190661"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f7/37/10.1177_26330040231190661.PMC10422886.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10352046","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":"Case report on the use of canakinumab for treatment of recurrent fevers and proteinuria in refractory systemic lupus erythematosus.","authors":"Kimia Yavari,&nbsp;Joseph Grisanti","doi":"10.1177/26330040231191141","DOIUrl":"https://doi.org/10.1177/26330040231191141","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a chronic multiorgan autoimmune disease with a wide range of clinical manifestations and a characteristic renal involvement leading to proteinuria. There remains an unmet need in SLE disease management as standard treatments including anti-inflammatory drugs, corticosteroids, antimalarial agents, and immunosuppressant therapies are not always effective in moderating disease activity. We report a 41-year-old Caucasian female patient with a 12-year history of SLE complicated by debilitating nocturnal fevers and WHO Class IV lupus nephritis who for years was refractory to standard therapies but improved dramatically with canakinumab, an interleukin-1β (IL-1β)antagonist. This is the first case of the use of canakinumab in SLE. The standard interventions demonstrated no significant impact on her proteinuria (>3 g/24 h), joint complaints, and nocturnal fevers. Additionally, her anti-dsDNA levels remained elevated, and her kidney function did not improve significantly. In contrast, the introduction of canakinumab provided a rapid reduction in nocturnal fevers within 6 weeks (i.e. decreased in frequency by 90%). Her proteinuria has also dropped from 3.5 g/24 h to 0.274 g/24 h, and her prednisone has been tapered and discontinued. In addition, her renal function has improved with an average glomerular filtration rate (GFR) level of 84.14 ± 7.56. There has also been a significant decrease in both erythrocyte sedimentation rate (ESR) and anti-dsDNA levels compared with the previous treatments. We report that canakinumab could potentially represent the next step in SLE patients' treatment who have failed conventional therapies or who are intolerant to them. In this case, the addition of canakinumab facilitated the tapering and ultimately discontinuing of corticosteroids. This case represents the first successful use of canakinumab in the treatment of refractory fevers and diffuse proliferative glomerulonephritis in SLE.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"4 ","pages":"26330040231191141"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a9/79/10.1177_26330040231191141.PMC10469244.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10507136","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":"Racial differences in the dermatological manifestations of tuberous sclerosis complex and the potential effects on diagnosis and care.","authors":"Ashley J Pounders,&nbsp;Gabrielle V Rushing,&nbsp;Sonal Mahida,&nbsp;Bareng Aletta Sanny Nonyane,&nbsp;Emily A Thomas,&nbsp;Rabiah Sundus Tameez,&nbsp;Tanjala T Gipson","doi":"10.1177/26330040221140125","DOIUrl":"10.1177/26330040221140125","url":null,"abstract":"<p><strong>Background: </strong>Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder of non-malignant tumor growths throughout major organ systems and neurological, neuropsychiatric, renal, and pulmonary co-morbidities. Skin manifestations are readily visible, often develop early in life, and are major features that contribute to TSC diagnosis. Medical photographs of such manifestations are commonly shown as examples from White individuals creating a potential barrier to accurately identifying these features in darker skinned individuals.</p><p><strong>Objectives: </strong>The aim of this report is to raise awareness of dermatological manifestations associated with TSC, compare their appearance by race, and consider how recognition of these features could impact diagnosis and treatment of TSC.</p><p><strong>Design and methods: </strong>We conducted a retrospective chart review at the TSC Center of Excellence (TSCOE) at the Kennedy Krieger Institute, which included all patients in the center from 2009 (inception) through the end of the calendar year 2015 and analyzed data from the TSC Alliance Natural History Database (NHD).</p><p><strong>Results: </strong>Among TSCOE patients, 50% of Black patients were diagnosed before the age of 1 year, compared with 70% of White patients. NHD data corroborated this trend showing a significant difference with only 38% of Blacks as compared with 50% of Whites were diagnosed at age ⩽1 year. A significant difference was observed where White participants had higher odds of having received genetic testing in both data sets. While no differences in the total number of TSC features was observed in either data set, shagreen patches and cephalic fibrous plaques were more frequently recorded in the NHD for Black individuals.</p><p><strong>Conclusion: </strong>We highlight a disparity in the representation of Black participants within the NHD, TSCOE, and TSC trials, in addition to differences in utilization of molecular testing and topical mechanistic target of rapamycin (mTOR) inhibitor therapy between Black and White individuals. We show a trend toward later diagnosis age in Black individuals. These differences between races warrant further study across additional clinical sites and other minority groups.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221140125"},"PeriodicalIF":0.0,"publicationDate":"2022-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ea/1c/10.1177_26330040221140125.PMC10032467.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9522684","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":"Clinical evidence of interventions assessed in Friedreich ataxia: a systematic review.","authors":"Paridhi Jain,&nbsp;Lohit Badgujar,&nbsp;Jelle Spoorendonk,&nbsp;Katharina Buesch","doi":"10.1177/26330040221139872","DOIUrl":"10.1177/26330040221139872","url":null,"abstract":"<p><strong>Objectives: </strong>The rare inherited autosomal recessive disease Friedreich ataxia (FA) causes progressive neurodegenerative changes and disability in patients. A systematic literature review (SLR) was carried out to understand and summarize the published efficacy and safety of therapeutic interventions in this disease.</p><p><strong>Methods: </strong>Database searches were carried out in MEDLINE, Embase, and Cochrane by two independent reviewers. In addition, trial registries and conference proceedings were hand-searched.</p><p><strong>Results: </strong>Thirty-two publications were deemed eligible according to PICOS criteria. Twenty-four publications detail randomized controlled trials. The most frequently identified therapeutic intervention was idebenone (<i>n</i> = 11), followed by recombinant erythropoietin (<i>n</i> = 6), omaveloxolone (<i>n</i> = 3), and amantadine hydrochloride (<i>n</i> = 2). Other therapeutic interventions were investigated in one publication: A0001, CoQ10, creatine, deferiprone, interferon-γ-1b, the L-carnitine levorotatory form of 5-hydroxytryptophan, luvadaxistat, resveratrol, RT001, and vatiquinone (EPI-743). These studies included patients from 8 to 73 years old, and disease duration varied from 4.7 to 19 years. Disease severity as per the mean GAA1 and GAA2 allele repeat length ranged from 350 to 930 and 620 to 987 nucleotides, respectively. Most frequently reported efficacy outcomes were the International Cooperative Ataxia Rating Scale (ICARS, <i>n</i> = 10), the Friedreich Ataxia Rating Scale (modified FARS and FARS-neuro, <i>n</i> = 12), the Scale for Assessment and Rating of Ataxia (SARA, <i>n</i> = 7), and the Activities of Daily Living scale (ADL, <i>n</i> = 8). Each of these assesses the severity of disability in FA patients. In many studies, patients with FA deteriorated according to these severity scales regardless of treatment, or inconclusive results were found. Generally, these therapeutic interventions were well-tolerated and safe. Serious adverse events were atrial fibrillation (<i>n</i> = 1), craniocerebral injury (<i>n</i> = 1), and ventricular tachycardia (<i>n</i> = 1).</p><p><strong>Conclusion: </strong>Identified literature showed a considerable unmet need for therapeutic interventions that halt or slow the deteriorating nature of FA. Novel efficacious drugs should be investigated that aim to improve symptoms or slow disease progression.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221139872"},"PeriodicalIF":0.0,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6e/67/10.1177_26330040221139872.PMC10032438.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10349835","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":"'Granulomatosis with polyangiitis after Pfizer vaccination': a case report.","authors":"Francis Essien,&nbsp;Jordan Evans,&nbsp;Andrew Kyle,&nbsp;Anatoly Urisman,&nbsp;Nicholas Adams","doi":"10.1177/26330040221130084","DOIUrl":"10.1177/26330040221130084","url":null,"abstract":"<p><p>The advent of COVID-19, caused by the SARS-CoV-2 virus, has resulted in over 541 million cases with 6.32 million deaths worldwide as of June 2022. The devastating consequences of this global pandemic resulted in the expedited generation of mRNA-based vaccines such as the Pfizer-BioNTech and Moderna vaccines. Although the vaccines have been effective, with recent data indicating greater than 95% effectiveness, rare complications have been reported, including manifestations of autoimmune phenomena. Herein, we report a rare case of Granulomatosis with polyangiitis (GPA) in an active duty military male soon after receiving the first dose of the Pfizer-BioNTech COVID-19 vaccine.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221130084"},"PeriodicalIF":0.0,"publicationDate":"2022-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/26/2b/10.1177_26330040221130084.PMC10032451.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9469870","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":"Building cross-border collaborations to increase diversity and accelerate rare disease drug development - meeting report from the inaugural IndoUSrare Annual Conference 2021.","authors":"Harvinder Kour Khera,&nbsp;Nisha Venugopal,&nbsp;Ramya T Karur,&nbsp;Rakesh Mishra,&nbsp;Reena V Kartha,&nbsp;Harsha K Rajasimha","doi":"10.1177/26330040221133124","DOIUrl":"10.1177/26330040221133124","url":null,"abstract":"<p><p>The inaugural IndoUSrare Annual Conference was held virtually from 29 November to 2 December 2021 and was organized by the Indo US Organization for Rare Diseases (IndoUSrare). The event saw participation from over 250 stakeholders of rare diseases who joined in virtually by audio/video on the Zoom platform from around the world, with a majority of attendees concentrated in the Indian subcontinent and the United States. The conference was held over 4 days from 10:00 a.m. to 12:30 p.m. Eastern Time on each day, which accommodated participation by speakers and attendees from both the eastern and western hemispheres. The agenda over 4 days holistically covered broad topics of interest to different stakeholder groups such as representatives from organizations working toward policy frameworks for rare diseases or orphan drugs (Days 1, 4), biomedical research institutions (Day 2), patient advocacy organizations (Day 3), and patient advocacy and engagement offices within Industry (Day 4). In this meeting report, we summarize the key highlights from each day of this conference, with a perspective on future directions encouraging cross-border multistakeholder collaborations to maximize diversity, equity, and inclusion (DEI) in rare disease diagnosis, research, clinical trials, and treatment access. Each day included a keynote lecture on the theme of the day followed by a series of individual speaker presentations and/or a panel discussion. The goal was to understand current barriers and bottlenecks in the rare disease ecosystem. The discussions also helped highlight gaps and identify potential solutions that can be achieved through building multistakeholder collaborations across international borders, which we believe IndoUSrare is uniquely positioned to do with organizational programs such as rare patient foundation alliance, technology-enabled patient concierge, research corps, and corporate alliance program. The inaugural conference of the then 2+-year-old IndoUSrare organization laid the foundation for ongoing engagement of stakeholders between the two countries - the United States and India. The long-term goal is to scale the conference more broadly and serve as a model for other low- and middle-income countries (LMICs).</p><p><strong>Plain language summary: </strong>IndoUSrare held its inaugural Annual Conference from 29 November to 2 December 2021. It was focused on the theme of cross-border collaborations for rare disease drug development, with each day dedicated to a specific patient-focused discussion topic, ranging from patient-led advocacy (Advocacy Day), research (Research Day), rare disease community support and engagement (Patients Alliance Day), to industry collaborations (Industry Day). The 4-day conference was held in virtual mode and attracted over 250 attendees from across the globe. This meeting report provides the key highlights of the event and summarizes learnings and future directions encouraging cross-border collaborations t","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221133124"},"PeriodicalIF":0.0,"publicationDate":"2022-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d6/81/10.1177_26330040221133124.PMC10032468.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9522687","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}