Therapeutic advances in rare disease最新文献

{"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}

{"title":"End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature.","authors":"Lester H Lambert,&nbsp;Noreen Shaikh,&nbsp;Jeffrey L Marx,&nbsp;David J Ramsey","doi":"10.1177/26330040221122496","DOIUrl":"10.1177/26330040221122496","url":null,"abstract":"<p><p>Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive neurocutaneous disorder. It is caused by the inheritance of sequence variants in the <i>ALDH3A2</i> gene, which codes for fatty aldehyde dehydrogenase (FALDH). Universal signs of the condition are congenital ichthyosis, spastic paresis of the lower and upper limbs, and reduced intellectual ability. In addition to this clinical triad, patients with SLS experience dry eyes and decreased visual acuity caused by a progressive retinal degeneration. Examination of the retina in patients with SLS often reveals glistening yellow crystal-like deposits surrounding the fovea. This crystalline retinopathy often develops in childhood and is considered pathognomonic for the disease. The metabolic disorder typically shortens lifespan to half that of the unaffected population. However, now that patients with SLS live longer, it becomes increasingly important to understand the natural course of the disease. Our case describes a 58-year-old woman with advanced SLS whose ophthalmic examination illustrates the end-stage of the retinal degeneration. Optical coherence tomography (OCT) and fluorescein angiography confirm the disease is restricted to the neural retina with dramatic thinning of the macula. This case is unique since it is among the most advanced both in terms of chronological age and severity of retinal disease. While the accumulation of fatty aldehydes, alcohols, and other precursor molecules is the probable cause of retinal toxicity, a more complete understanding of the course of retinal degeneration may aid in the development of future treatments. The aim of our presentation of this case is to increase awareness of the disease and to foster interest in therapeutic research which may benefit patients with this rare condition.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221122496"},"PeriodicalIF":0.0,"publicationDate":"2022-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d0/7b/10.1177_26330040221122496.PMC10032463.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10349834","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":"Congenital disorder of glycosylation - one size does not fit all: a parent's perspective.","authors":"Konstantin Feinberg","doi":"10.1177/26330040221118099","DOIUrl":"10.1177/26330040221118099","url":null,"abstract":"<p><p>This article is written by the parent of a child living with <i>PMM2</i>-congenital disorder of glycosylation (abbreviated to <i>PMM2</i>-CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label treatment with epalrestat.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221118099"},"PeriodicalIF":0.0,"publicationDate":"2022-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/92/6f/10.1177_26330040221118099.PMC10032444.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9469866","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":"Primary ovarian malignant mixed Müllerian tumor: a rare case report.","authors":"Sunil V Jagtap,&nbsp;Shubham S Jagtap,&nbsp;Rashmi Gudur,&nbsp;Sonam Billawaria","doi":"10.1177/26330040221107389","DOIUrl":"10.1177/26330040221107389","url":null,"abstract":"<p><p>Primary malignant mixed Müllerian tumor (MMMT) of the ovary is an extremely uncommon neoplasm. These tumors show very aggressive clinical course and high mortality as compared to epithelial ovarian neoplasms. The objective of present study is to present a rare case of primary MMMT homologous type of ovary for its aggressive clinical course and immunohistochemistry findings. A 48-year-old woman presented with complaints of lower abdominal pain, dullness of 3 months duration. USG abdomen pelvis revealed bilateral ovarian solid and cystic mass lesion suggestive of malignant potential. Peritoneal fluid cytology reported as positive for malignant cells. Patient underwent exploratory laparotomy which showed large bilateral ovarian masses with extensive nodular deposits all over pelvic-abdominal organs. Optimal debulking surgery was performed and specimen examined for histopathology. On histopathology, it was reported as bilateral ovarian MMMT homologous type. Immunohistochemistry was done which showed the tumor cell expression positive for CK, EMA, CK7, CA-125, and WT1. Also a distinct population tumor cells express Cyclin D1 and focal and patchy expression of CD-10. Tumor was negative for Desmin, PLAP, Calretin, and inhibin. The patient received operative, chemotherapy and adjuvant therapy along with extensive electrolyte, nutritive, and supplementary support. The patient, however, rapidly deteriorated and died within 9 months of postoperative day. Primary ovarian MMMT is an extremely uncommon neoplasm, and it showed extensive aggressive clinical course and even with operative, chemotherapy, and adjuvant therapy, the patient yields poor prognosis.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221107389"},"PeriodicalIF":0.0,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ad/8f/10.1177_26330040221107389.PMC10032450.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9469871","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":"Quality of life in Barth syndrome.","authors":"Alexander Y Kim,&nbsp;Hilary Vernon,&nbsp;Ryan Manuel,&nbsp;Mohammed Almuqbil,&nbsp;Brittany Hornby","doi":"10.1177/26330040221093743","DOIUrl":"10.1177/26330040221093743","url":null,"abstract":"<p><strong>Introduction: </strong>Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, neutropenia, growth abnormalities, and skeletal myopathy. There have been few studies investigating health-related quality of life (HRQoL) in this population. This study investigated the impact of BTHS on HRQoL and select physiologic measures in affected boys and men.</p><p><strong>Methods: </strong>In this study, we characterize HRQoL in boys and men with BTHS through cross-sectional analysis of a variety of outcome measures including the Pediatric Quality of Life Inventory (PedsQL^TM) Version 4.0 Generic Core Scales, PedsQL^TM Multidimensional Fatigue Scale, Barth Syndrome Symptom Assessment, the PROMIS^TM Fatigue Short Form, the EuroQol Group EQ-5D^TM, the Patient Global Impression of Symptoms (PGIS), and the Caregiver Global Impression of Symptoms (CaGIS). For a specific subset of participants, physiologic data were available in addition to HRQoL data.</p><p><strong>Results: </strong>For the PedsQL^TM questionnaires, 18 unique child and parent reports were analyzed for children aged 5-18 years, and nine unique parent reports were analyzed for children aged 2-4 years. For the other HRQoL outcome measures and physiologic measurements, the data from 12 subjects (age range 12-35 years) were analyzed. Based on parent and child reports, HRQoL is significantly impaired in boys and men with BTHS, especially in school functioning and physical functioning. Parent and child reports of more severe fatigue are significantly correlated with more impaired HRQoL. When exploring the potential relationship between physiology and HRQoL, the CaGIS as a whole for pediatric subjects and individual questionnaire items from the PGIS and CaGIS for pediatric subjects assessing tiredness, muscle weakness, and muscle pain showed the strongest correlations.</p><p><strong>Conclusion: </strong>This study provides a unique characterization of the HRQoL in boys and men with BTHS using a variety of outcome measures, and it highlights the negative impact of fatigue and muscle weakness on HRQoL in BTHS.</p><p><strong>Trial registry name: </strong>A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects with Barth Syndrome (TAZPOWER). https://clinicaltrials.gov/ct2/show/NCT03098797.Registration Number: NCT03098797.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221093743"},"PeriodicalIF":0.0,"publicationDate":"2022-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6f/34/10.1177_26330040221093743.PMC10032447.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9469865","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":"Future of genetic therapies for rare genetic diseases: what to expect for the next 15 years?","authors":"Luiza Amara Maciel Braga,&nbsp;Carlos Gilbert Conte Filho,&nbsp;Fabio Batista Mota","doi":"10.1177/26330040221100840","DOIUrl":"10.1177/26330040221100840","url":null,"abstract":"<p><strong>Introduction: </strong>Rare genetic diseases affect millions of people worldwide. Most of them are caused by defective genes that impair quality of life and can lead to premature death. As genetic therapies aim to fix or replace defective genes, they are considered the most promising treatment for rare genetic diseases. Yet, as these therapies are still under development, it is still unclear whether they will be successful in treating these diseases. This study aims to address this gap by assessing researchers' opinions on the future of genetic therapies for the treatment of rare genetic diseases.</p><p><strong>Methods: </strong>We conducted a global cross-sectional web-based survey of researchers who recently authored peer-reviewed articles related to rare genetic diseases.</p><p><strong>Results: </strong>We assessed the opinions of 1430 researchers with high and good knowledge about genetic therapies for the treatment of rare genetic diseases. Overall, the respondents believed that genetic therapies would be the standard of care for rare genetic diseases before 2036, leading to cures after this period. CRISPR-Cas9 was considered the most likely approach to fixing or replacing defective genes in the next 15 years. The respondents with good knowledge believed that genetic therapies would only have long-lasting effects after 2036, while those with high knowledge were divided on this issue. The respondents with good knowledge on the subject believed that non-viral vectors are more likely to be successful in fixing or replacing defective genes in the next 15 years, while most of the respondents with high knowledge believed viral vectors would be more successful.</p><p><strong>Conclusion: </strong>Overall, the researchers who participated in this study expect that in the future genetic therapies will greatly benefit the treatment of patients with rare genetic diseases.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221100840"},"PeriodicalIF":0.0,"publicationDate":"2022-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/32/99/10.1177_26330040221100840.PMC10032453.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9522682","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":"Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature.","authors":"Diederik De Graef,&nbsp;Jehan Mousa,&nbsp;Marta Biderman Waberski,&nbsp;Eva Morava","doi":"10.1177/26330040221091283","DOIUrl":"10.1177/26330040221091283","url":null,"abstract":"<p><p>Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is a CDG presenting with a clinically recognizable presentation, including early hypoglycemia, coagulation defects, and gastrointestinal and hepatic symptoms. We report on a female patient with biallelic pathogenic mutations in the <i>MPI</i> gene who presented with recurrent respiratory infections and abnormal IgM levels, but none of the classic symptoms associated with MPI-CDG. Oral mannose therapy led to a fast improvement in serum IgM levels and transferrin glycosylation in our patient. The patient did not experience severe infections after the initiation of treatment. We also reviewed the immune phenotype in patients so far reported with MPI-CDG.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040221091283"},"PeriodicalIF":0.0,"publicationDate":"2022-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/42/f4/10.1177_26330040221091283.PMC10032425.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10662705","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":"Pharmacology update: pamidronate for hypertrophic pulmonary osteoarthropathy in palliative care.","authors":"Bethany Faust,&nbsp;Aaron Parkinson,&nbsp;Steven J Baumrucker","doi":"10.1177/26330040211070298","DOIUrl":"10.1177/26330040211070298","url":null,"abstract":"<p><p>Hypertrophic pulmonary osteoarthropathy (HPOA) is a rare syndrome that causes clubbed fingers, periostitis, and synovial effusions. It can adversely impact a patient's quality of life. It occurs secondary to pulmonary disease - most commonly pulmonary malignancy. The most effective treatment for HPOA is to treat the underlying disease, usually through surgical resection, chemotherapy, or radiation. However, symptomatic treatments rather than definitive treatments (surgical, chemotherapy, or radiation) are more appropriate for the palliative care patient. Pamidronate is a promising medication for the treatment of HPOA for its safety and rapid onset of action. Further research is indicated to determine whether pamidronate is consistently effective.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"3 ","pages":"26330040211070298"},"PeriodicalIF":0.0,"publicationDate":"2022-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ec/50/10.1177_26330040211070298.PMC10032426.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9522685","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}