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Hear from Dr Andrew Dauber and Dr Marta Ramón Krauel in this podcast as they explore short stature conditions, including SPIGFD (severe primary IGF-1 deficiency) / growth hormone resistance, through real patient cases and clinical insights. While growth hormone deficiency is a well-known cause of short stature, this discussion covers patient cases where growth hormone levels are normal or even elevated, yet IGF-1 levels remain low—a hallmark of primary IGF-1 deficiency.
Gain valuable knowledge on identifying and managing this rare condition, with practical takeaways for clinical practice.
Key clinical takeaways:
Growth hormone resistance can range from severe IGF-1 deficiency, like in classic Laron syndrome, to milder mutations in the same receptor. There can also be mutations in other parts of the signalling pathway Patients with SPIGFD have low IGF-1 levels resulting from growth hormone resistance or insensitivity, rather than deficiency, as they produce sufficient or even high levels of growth hormone without secondary causes of growth failure Laron syndrome, a classic form of SPIGFD, is characterised by severe short stature and distinct features such as spontaneous hypoglycemia, mid-face hypoplasia, frontal bossing, a high-pitched voice, and underdeveloped genitalia in boys Early and accurate diagnosis of SPIGFD is crucial for effective management, as growth hormone therapy is ineffective for these patients; recognising the distinction between severe and less severe IGF-1 deficiency, as well as primary versus secondary causes, ensures appropriate treatment to ensure optimal outcomes Recombinant IGF-1 therapy is indicated for patients with SPIGFD. Healthcare professionals must monitor for adverse events such as hypoglycemia and potential malignanciesWatch the experts in conversation in the full video or get the 5-minute highlights: https://cor2ed.com/pe-connect/programmes/short-stature-spigfd/
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LinkedIn: https://www.linkedin.com/showcase/pe-connect/
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This content is intended for healthcare professionals only.
The medical experts in this podcast are expressing their own views and not those of COR2ED, Supporters or their institution. This podcast is supported by an Independent Education Grant from Ipsen
This podcast is developed by cor2ed.com
Published December 2024
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In this second episode of a two-part podcast series focusing on neuroendocrine tumours (NETs), gastroenterologist Dr Mohid S Khan and NET patient Sally Jenkins explore shared decision-making, between patient and physician.
The speakers discuss different treatment settings, including home vs hospital-based injections, as well as the importance of individualising treatment decisions, as there is often no standard therapy for patients with NETs. Finally, they look at some of the studies reporting patient preferences, and how the data can be used to inform patient decisions.
Prefer to watch and listen?
Watch the video and download the full transcript on the COR2ED website https://cor2ed.com/net-connect/programmes/net-shared-decision-making/?media=1Watch the full video on YouTube https://youtu.be/2JYuPhc2jHg
Watch the highlights video on YouTube – https://www.youtube.com/watch?v=pPMVLjPLv8k
Follow us on social media
LinkedIn: https://www.linkedin.com/company/cor2ed-net-connect
X: https://x.com/net_connectinfo
This content is intended for healthcare professionals only.
The medical experts in this podcast are expressing their own views and not those of COR2ED, Supporters or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen
This podcast is developed by cor2ed.com
Published July 2024
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In this first episode of a two-part podcast series focusing on neuroendocrine tumours (NETs), gastroenterologist Dr Mohid S Khan and NET patient Sally Jenkins discuss the importance of communication and collaboration during consultations. This can include how to make a patient feel as comfortable and in control as possible, as well as recognising their goals and concerns.
The speakers share their real-life experiences of what makes a good consultation, from the perspectives of both a patient and a physician. They also explore the importance of support networks, individualising treatment, and the impact of NET and NET treatment options in daily life.
NETs are complex, rare diseases. Optimal management and treatment requires early diagnosis, shared decision-making, and timely referral. Are you aware of how healthcare practitioners and patients can share decision- making? Or the recent data on how patients prefer to receive treatment?
In this first episode of a two-part podcast series, Dr Mohid S Khan and NET patient Sally Jenkins discuss shared decision-making in NET consultations and ways to help the patient in their journey.
Prefer to watch and listen?
Watch the video and download the full transcript on the COR2ED website https://cor2ed.com/net-connect/programmes/net-shared-decision-making/Watch the full video on YouTube https://youtu.be/YgqrEnSePWg
Watch the highlights video on YouTube – https://www.youtube.com/watch?v=pPMVLjPLv8k
Follow us on social media
LinkedIn: https://www.linkedin.com/company/cor2ed-net-connect
X: https://x.com/net_connectinfo
This content is intended for healthcare professionals only.
The medical experts in this podcast are expressing their own views and not those of COR2ED, Supporters or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen
This podcast is developed by cor2ed.com
Published July 2024
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In the second episode of a two-part podcast series, Prof. Martyn Caplin and Prof. Rachel Riechelmann discuss how to optimize treatment for people living with NETs and future developments in the field which may help to improve patient outcomes. The episode includes information on different treatment options and modalities, and well as best practice on identifying which patients may benefit most from particular treatments using available biomarkers.
Prof. Martyn Caplin is Professor of Gastroenterology and GI Neuroendocrinology at the Royal Free Hospital and University College London, UK, he also leads The Royal Free London “European Neuroendocrine Tumour Society’s Centre of Excellence” and the UCL Academic Neuroendocrine Tumour Unit, which includes leading scientific and clinical research programmes into NETs. Prof. Rachel Riechelmann is a medical oncologist and clinical scientist focused on colorectal/anal cancers and NETs. Director of the Clinical Oncology Department, AC Camargo Cancer Center, in Sao Paulo, Brazil and is Head of the Neuroendocrine Tumors Reference Center.
Prefer to watch as well as listen?
Watch a video of the experts in conversation and download the full transcript on the COR2ED website: https://cor2ed.com/net-connect/programmes/regional-differences-neuroendocrine-tumours-nets-2/
Or go to the video on YouTube: https://youtu.be/zd_JvUmIhFg
We are pleased to share that this podcast is endorsed by the North American Neuroendocrine Tumor Society (NANETS). You can find out more about NANETS at https://nanets.net/
The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen.
This podcast is developed by cor2ed.com
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In this first episode of a two-part podcast series, Prof. Martyn Caplin and Prof. Rachel Riechelmann discuss regional differences in NET epidemiology, and patient pathways, as well as look to future developments.
NETs are complex, rare diseases. Their optimal management and treatment requires early diagnosis, shared decision-making, and timely referral. The best possible patient journey is impacted by regional differences in management strategies, referral pathways, and availability of diagnostic modalities and treatments.. Are you aware of the epidemiology of NETs and current best practices for diagnosis, referral strategies, and treatment for NETs? Or how regional differences can impact these? In this first episode of a two-part podcast series, Prof. Martyn Caplin and Prof. Rachel Riechelmann discuss regional differences in NET epidemiology, patient pathways, as well as look to future developments.
Prof. Martyn Caplin is Professor of Gastroenterology and GI Neuroendocrinology at the Royal Free Hospital and University College London, UK, he also leads The Royal Free London “European Neuroendocrine Tumour Society’s Centre of Excellence” and the UCL Academic Neuroendocrine Tumour Unit, which includes leading scientific and clinical research programmes into NETs. Prof. Rachel Riechelmann is a medical oncologist and clinical scientist focused on colorectal/anal cancers and NETs. Director of the Clinical Oncology Department, AC Camargo Cancer Center, in Sao Paulo, Brazil and is Head of the Neuroendocrine Tumors Reference Center.
Prefer to watch as well as listen?
Watch a video of the experts in conversation and download the full transcript on the COR2ED website: https://cor2ed.com/net-connect/programmes/regional-differences-neuroendocrine-tumours-nets-1/
Or go to the video on YouTube: https://youtu.be/6fKAxS4u-2o
We are pleased to share that this podcast is endorsed by the North American Neuroendocrine Tumor Society (NANETS). You can find out more about NANETS at https://nanets.net/
The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen.
This podcast is developed by cor2ed.com
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Comprehensive biochemical and genetic testing allows for the identification of classical and non-classical forms of primary IGF-I deficiency and can identify overlapping syndromes. Are you updated on the treatment for patients with severe primary IGF-I deficiency? Listen as expert pediatric endocrinologists delve into this rare growth disorder.
Join Prof. Helen Storr (Professor and Honorary Consultant in Paediatric Endocrinology at Queen Mary University, London and Barts Health Trust, London, UK) and Prof. Andrew Dauber (Chief of Endocrinology, Children's National Hospital. Washington, DC, USA) as they engage in a conversation about the diagnosis and management of patients with severe primary IGF-I deficiency. This is the second video podcast episode in a two-part series on patients with severe short stature.
Prefer to watch as well as listen?
Watch a video of the experts in conversation and download the full transcript on the COR2ED website: https://cor2ed.com/pe-connect/programmes/severe-primary-igfi-deficiency/
Or go to the video on YouTube: https://youtu.be/7sNGzJRzv7g
This Podcast is endorsed by the Magic Foundation.Find out more on their website: https://www.magicfoundation.org/The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen. This podcast is developed by COR2ED.com
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Do you know how to differentiate between growth hormone deficiency (or GHD) and primary IGF-I deficiency (or growth hormone resistance) and the key challenges in the diagnosis and management of patients with short stature conditions?
For children presenting with short stature, an early and correct diagnosis is essential to allow children to achieve their full growth potential with appropriate treatment. Listen as expert pediatric endocrinologists delve into these rare growth disorders.
Join Prof. Philippe Backeljauw (Professor at Cincinnati Children's Hospital Medical Center and the University of Cincinnati, Cincinnati, USA) and Prof. Dr. Joachim Woelfle (Chairman of Pediatrics, Director of the Department of Pediatric and Adolescent Medicine at the Friedrich Alexander University Erlangen, Germany) as they engage in a conversation regarding key challenges in the diagnosis and management of patients with short stature conditions.
The experts discuss the incidence of patients with GHD and severe primary IGF-I deficiency and how to differentiate these conditions based on clinical presentation as well as biochemical and genetic testing. The importance of taking a good medical history and physical examination is discussed, as well as various caveats related to biochemical and genetic testing. Regional differences in the diagnosis of these patients are covered as well as key challenges in the diagnosis and management. Finally, the experts discuss the different treatment options as well as the importance of ensuring caregivers are well-informed regarding the efficacy and safety of the respective treatments.
This is the first video podcast episode in a two-part series on patients with severe short stature.
Prefer to watch as well as listen?
Watch a video of the experts in conversation and download the full transcript on the COR2ED website: https://cor2ed.com/pe-connect/programmes/rare-growth-disorders-podcast/
Or go to the video on YouTube:
https://youtu.be/OfI3lZgjew0
This Podcast is endorsed by the Magic Foundation. Find out more on their website: https://www.magicfoundation.org/The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from Ipsen. This podcast is developed by COR2ED.com
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Gene therapy and gene-modified cell therapies have a great potential for rare diseases to either help patients to cure their disease or improve their lives. Did you know that gene therapy will probably become a major treatment option for many rare diseases in the near future? Listen as expert hematologists delve into this topic and take hemophilia as a practical example.
Join Prof. Cédric Hermans (Head of the Division of Haematology, the Hemostasis and Thrombosis Unit and the Hemophilia Center of the Saint-Luc University Hospital in Brussels, Belgium) and Prof. Miguel Escobar (Professor of Medicine and Pediatrics, University of Texas Health Science Center at Houston-McGovern Medical School and University of Texas M.D. Anderson Cancer Center Medical Director, Gulf States Hemophilia & Thrombophilia Center Houston, USA) as they engage in a conversation about the potential of gene and gene-modified cell therapies in rare diseases, and how early gene therapies have been implemented as a treatment approach for rare diseases, such as leber congenital amaurosis, spinal muscular atrophy, beta-thalassemia, adrenoleukodystrophy, and hemophilia.
The experts explore hemophilia as an example of how gene therapy has become a reality within rare diseases. They discuss why we need gene therapy for rare disease, what gene therapy and gene modified cell therapy is, and how this has become a reality in hemophilia, and look to the future of gene therapy for rare diseases. Finally they reflect on the importance of a multidisciplinary approach.
- Access information on the programme, the clinical takeaways, the flashcard and the transcript here https://cor2ed.com/hemostasis-connect/programmes/gene-therapy-rare-diseases/
Find out about the experts Prof Cedric Hermans and Prof. Miguel Escobar.
The medical experts in this podcast are expressing their own views and not those of COR2ED, supporters, or their institution. This podcast is supported by an Independent Medical Education Grant from The American Society of Gene + Cell Therapy and Pfizer.
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Robert Mitchell-Thain, CEO of the PBC Foundation, Edinburgh, UK and Kath Houghton, Autoimmune Specialist Nurse, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK, discuss their ‘Primary Biliary Cholangitis (PBC) highlights from EASL 2023’ in this podcast.
Their discussion covers the relationship between initial symptoms and disease trajectory, the association of biochemical control and outcomes in PBC, and the impact and assessment of patient reported outcomes.
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Prof. Gideon Hirschfield, Professor of Medicine, Division of Gastroenterology, University of Toronto, Canada and Dr Emma Culver, Consultant Hepatologist and Honorary Senior Lecturer at the John Radcliffe Hospital and University of Oxford, UK discuss their ‘Primary Biliary Cholangitis (PBC) highlights from EASL 2023’ in this podcast.
Their discussion focuses on cancer risk associated with PBC; liver stiffness and prognosis; and outcomes and response prediction in second-line therapy.
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In this podcast, Prof. Martyn Caplin and Dr Aman Chauhan discuss the role of somatostatin analogues (SSAs) at progression and whether to continue or not. In patients with well-differentiated Grade 1/2 neuroendocrine tumours (NETs) and slowly progressive asymptomatic disease, potential strategies for continuing SSA at progression include increasing the SSA dose frequency from every four to every two weeks, increasing the monthly SSA dose, using SSA as maintenance therapy in stable patients unable to tolerate chemotherapy, and—in patients receiving peptide receptor radionuclide therapy (PRRT)—during and/or post PRRT.
They share their clinical experience and their own clinical practice, based on data from key studies including NETTER-1, CLARINET FORTE, and REMINET, as well as relevant retrospective analyses. Prof. Martyn Caplin is Professor of Gastroenterology and GI Neuroendocrinology at the Royal Free Hospital and University College London, London, UK. Dr Aman Chauhan is a Medical Oncologist and Director of NET Theranostics at the University of Kentucky Markey Cancer Center, Kentucky, USA.
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In this third episode of a three-episode podcast series, COR2ED and ASBMR have partnered with patient advocates Inês Alves (European Rare Bone Forum) and Tracy Hart (Osteogenesis Imperfecta Foundation) to provide rare bone disease highlights from the ASBMR 2022 Annual Meeting, focusing on the patient perspective.
The experts opened the podcast with the importance of engaging diverse patient communities. Independent of geography, patients should be educated about their condition and prepared for clinical trial participation; advocacy groups play a central role in this engagement. The experts then discussed outcomes of the IMPACT survey in OI (osteogenesis imperfecta), whose extensive database (66 countries, >2000 participants) offers meaningful insights into the clinical, humanistic and economic challenges faced by OI patients around the world. Looking to advances in pre-clinical research, the experts reviewed data on nanoparticle-mediated delivery of small interfering RNA (siRNA) to targeted mutation sites, tested in an animal model of autosomal dominant osteopetrosis. As the experts note, patient communities struggle with lengthy research and development timelines for novel therapies; therefore, it’s important for advocates to keep communities informed about ongoing efforts.
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In this second episode of a three-episode podcast series, COR2ED and ASBMR have partnered with Professor Eric Rush (Children’s Mercy Hospital) to provide rare bone disease highlights from ASBMR 2022 Annual Meeting.
Prof. Rush opens with detailed information on fibrodysplasia ossificans progressiva (FOP): symptoms of this severe congenital condition include permanent heterotopic ossifications preceded by painful soft tissue swelling. Nearly all patients have the same ACVR1 receptor variant, and Prof. Rush shares therapy options for the disease. He then offers insights on hypochondroplasia (HCH), a developmental disorder caused by a defect in the FGFR3 gene. An animal model for HCH has been developed, in which infigratinib, a selective FGFR tyrosine kinase inhibitor, shows positive effects on growth as well as proportion. He then describes a clinical study in osteogenesis imperfects (OI), in which allogenic transplantation of fetal liver-derived mesenchymal stem cells was tested in children with type III and type IV OI. While increased bone density and height were observed, Prof. Rush cautions that both the number of study participants and the study duration were low. He closes the podcast with personal insights from the in-person Annual Meeting, including opportunities for engagement and exchange at “Meet the Professor” sessions.
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In this first episode of a three-episode podcast series, COR2ED and ASBMR have partnered with Professor Anna Teti (University of L’Aquila) to provide rare bone disease highlights from the Rare Diseases Symposium that preceded the ASBMR 2022 Annual Meeting.
Opening with an overview of ongoing clinical research in several rare bone diseases, Prof. Teti highlights the importance of preparing clinicians for unexpected adverse events. Notably, therapies used in the context of rare bone diseases can cause adverse events not seen if a common bone disease was treated. For osteogenesis imperfecta, she discusses a novel treatment based on umbilical cord mesenchymal stem cells. A safety study in 18 paediatric patients – three of whom received a pre-natal injection – is awaiting completion by the end of 2023. Initial safety data suggests that multiple stem cell transplantations in children with this disease is safe. Prof. Teti emphasizes the impact of achondroplasia, the most common rare bone disease, and one for which new treatments are also in development. Pharmacological treatment aims to reduce activity of the pathogenic, overactive variant of FGFR3 which causes the disease. She is confident that a treatment will be found that, at minimum, enhances quality of life in patients. Prof. Teti concludes with a review of the highly collaborative spirit of the Rare Diseases Symposium, emphasizing that patient well-being must be the driving force of research.
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In this podcast episode, Prof. Kris Kowdley, Director, Liver Institute Northwest, Washington State University, USA and Prof. Jörn Schattenberg, Director, Metabolic Liver Research, University Medical Centre Mainz, Germany provide their take-home messages on primary biliary cholangitis (PBC) data presented at the International Liver Congress 2022.
The two experts discuss how to improve PBCdiagnosis, the importance of listening to patient needs when considering PBC treatment options, considerations for treating PBC-related symptoms, differences in PBC diagnosis and treatment guidelines between Europe and the US, and what's coming next for this rare liver disease.
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In this podcast, Prof. Gideon Hirschfield, Professor of Medicine, Division of Gastroenterology, University of Toronto, Canada and Prof. Ana Lleo, Professor of Internal Medicine, Humanitas University, Milan, Italy, discuss key abstracts on primary biliary cholangitis (PBC) from the International Liver Congress 2022. Their discussions focus on treatments currently available, treatment sequencing, management of adverse events, expected future therapeutic options and how to address the unmet clinical need of this rare liver disease.
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We have partnered with international experts to provide rare bone disease highlights from ASBMR 2021.
This is the final episode in a series of four podcasts, in this episode Dr Eekhoff and Dr Rush discuss their rare bone disease highlights from the meeting.
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We have partnered with international experts to provide rare bone diseases highlights from ASBMR 2021.
This is the third episode in a series of four podcasts. In this episode Charlene Waldman (RBD Alliance) and Inês Alves (European Rare Bone Forum) discuss their highlights.
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We have partnered with international experts to provide rare bone diseases highlights from ASBMR 2021.
This is the second in a series of four podcasts. In this episode Dr Oliver Semler has selected and discusses his highlights.
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We have partnered with international experts to provide rare bone disease highlights from ASBMR 2021.
This is the first episode in a series of four podcasts, in this episode Dr Mughal and Dr Javaid discuss their highlights.
