Category: Calcium/Bone Disorders
Significant knowledge gaps exist regarding the humanistic effects of hypoparathyroidism (HypoPT), a rare debilitating disorder. We report results from a global survey (13 countries) to characterize the impact of HypoPT on health-related quality of life (HRQoL) from the patient (pt) perspective.
An anonymous survey was conducted in pts with uncontrolled chronic HypoPT (as determined by pts’ report of persistent symptoms and/or poorly controlled calcium levels as told by their physician) despite receiving conventional therapy. Pts currently or previously treated with parathyroid hormone were excluded. HRQoL and health status were evaluated using 2 validated instruments, 36-item short form health survey (SF-36) and 5-level EuroQoL 5 dimensions (EQ-5D-5L). HypoPT-associated symptoms were assessed through a disease-specific Hypoparathyroidism Symptom Diary. All analyses were descriptive.
Survey was conducted Oct 2017─Mar 2018 in 398 pts who met the study inclusion criteria (mean age, 51.7 years; women, 78%; surgery as main cause of HypoPT, 80%; mean duration of HypoPT, 8.9 years). Per Hypoparathyroidism Symptom Diary, pts reported symptoms of physical fatigue (97%), muscle cramps (86%), tingling (84%) and heaviness in limbs (82%), and cognitive and mood symptoms of brain fog (77%), anxiety (78%), and depression (76%). There was an inverse relationship between HypoPT symptom severity and both HRQoL assessment scores – the greater the severity, the lower the HRQoL and health status scores. Mean EQ-5D-5L utility scores (0–1) were 0.9/0.8/0.7/0.4 for pts reporting no/mild/moderate/severe HypoPT symptoms, respectively. EQ-5D-5L visual analog scale scores (0–100) were 86.9/72.5/57.7/41.1 for pts reporting no/mild/moderate/severe HypoPT symptoms, respectively. Mean SF-36 summary scores (0‒100) were 45.4/44.6/37.1/28.7 (physical component summary [PCS]) and 53.2/44.9/35.2/31.6 (mental health component summary [MCS]) for pts reporting no/mild/moderate/severe HypoPT symptoms, respectively.
Uncontrolled chronic HypoPT can be associated with substantial burdensome symptoms. The degree of HRQoL reduction corresponds with the magnitude of HypoPT-related symptom severity reported by pts. Mean SF-36 PCS and MCS scores for pts with chronic HypoPT in this survey were lower than scores reported in literature for pts with other disease states, including heart disease, hematologic disorders, pituitary disorders, diabetes, and cancer.
Findings showed that despite receiving conventional treatment, chronic HypoPT was associated with burdensome symptoms and negative impact on HRQoL.
Jens Bollerslev– Head of the Section of Specialized Endocrinology and Professor of Endocrinology at the University of Oslo, Norway, Section of Specialized Endocrinology, Oslo University Hospital, Oslo, Norway
Heide Siggelkow– Professor of Medicine, Medical Director of the MVZ Endocrinologikum, associate professor at the Clinic of Gastroenterology and Gastrointestinal Oncology and Gastroenterology and Endocrinology and head of the Working Group of Molecular Endocrinoloy, Clinic of Gastroenterology and Endocrinology, University of Göttingen, Göttingen, Germany
John Germak– Global Medical Team Lead, Shire International GmbH, Zug, Switzerland
Claudio Marelli– Global Medical Lead Internal Medicine, Shire International GmbH, Zug, Switzerland
Kristina Chen– ORE Lead – Natpar/a; Outcomes Research and Epidemiology, Internal Medicine & Endocrinology, Shire Human Genetic Therapies, Inc., Cambridge, MA, USA
Helen Dahl-Hansen– Nurse NP, Nordic hypoPARA Organisation, Oslo, Norway
Elizabeth Glenister– Founder and CEO of Hypopara UK, Hypopara UK, East Grinstead, UK
Nawal Bent-Ennakhil– Director of Real World Evidence at Adelphi Real World, Adelphi Real-World, Bollington, UK
Davneet Judge & Katie Gibson– Observational Research Manager & Associate Manager, Observational Research, Adelphi Real World, Adelphi Real-World, Bollington, UK
Bart L. Clarke– Consultant Metabolic Bone Disease Core Group and Professor of Medicine, Mayo Clinic Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, MN, USA
Head of the Section of Specialized Endocrinology and Professor of Endocrinology at the University of Oslo, Norway
Section of Specialized Endocrinology, Oslo University Hospital, Oslo, Norway
Jens Bollerslev is head of the Section of Specialized Endocrinology at Oslo University Hospital, and Professor of Endocrinology at the University of Oslo, Norway. He was a recent member of the Executive Board, the European Society of Endocrinology (ESE), and chair of the ESE Education Committee. Currently, he is the chair of the ESE committee for Post Graduate Courses and the newly established ESE PARAT project. Moreover, he was a member of the ESE Clinical Committee and thereby involved in the development of ESE Clinical Guideline on Management of Chronic Hypoparathyroidism in Adults.
Professor of Medicine, Medical Director of the MVZ Endocrinologikum, associate professor at the Clinic of Gastroenterology and Gastrointestinal Oncology and Gastroenterology and Endocrinology and head of the Working Group of Molecular Endocrinoloy
Clinic of Gastroenterology and Endocrinology, University of Göttingen, Göttingen, Germany
Heide Siggelkow is associate professor at the Clinic of Gastroenterology and Gastrointestinal Oncology and Gastroenterology and Endocrinology and head of the Working Group of Molecular Endocrinoloy and Osteology at the University Medical Center, Göttingen. In addition to her work in research and teaching at the University she is Medical Director of the MVZ Endocrinologikum in cooperation with the University Medical Center of Göttingen, working in an outpatient clinic for endocrine and metabolic bone diseases including osteoporosis as well as hypopara- and hyperparathyroidism and rare bone diseases. After studying medicine in Hannover (Germany), Boston (USA), Coventry (GB) and Paris (France) she gained her degree in internal medicine in 1998, followed by specialization in Endocrinology and Diabetology in 2001 and in Osteology in 2005. In 2002, Heide Siggelkow received her Venia legendi for Internal Medicine from the University Medical Center, Göttingen and the title Professor (apl) in 2009. Between 2011 and 2015, Heide Siggelkow was head of the Association of German-language Societies in the special Field of Osteology (DVO). In this position she initiated and supported the development of the Osteologic Research Centers DVO. Since 2017, Heide Siggelkow has been president of the German Society of Osteology (DGO). In 2017, the Intensive Course for Clinical Endocrinology of the German Society of Endocrinology (DGE) took place in Göttingen under her leadership and in 2019 she will host the yearly congress of the society DGE in Goettingen. For this task she has been a board member of the DGE since 2016.
Global Medical Team Lead
Shire International GmbH, Zug, Switzerland
John Germak, MD is a pediatric endocrinologist, board certified in both Pediatrics and Pediatric Endocrinology, and has had over 20 years of clinical and academic practice in pediatric endocrinology, including Director of Pediatric Endocrinology at The Ohio State University School of Medicine Public Health, before beginning his work in the biopharmaceutical industry.
Global Medical Lead Internal Medicine
Shire International GmbH, Zug, Switzerland
Today’s Medical Profession in the Pharmaceutical Industry is naturally positioned to play an expanded role along the full drug value chain, straddling the Research & Development and the Marketing sides of Pharma. In line with this concept - particularly relevant for rare diseases – I have covered a variety of medical tasks across functions as detailed below: I have been in clinical practice as MD with specialization in cardiology for some years and then I have joined Pharma Industry Companies initially as Medical Director in Italy, then covering global positions in R&D, Strategic Marketing and Medical Affairs for over 25 years, with focus on imaging diagnostics and on rare diseases. Also conversant with the discovery and the preclinical phases of drug development in addition to the post-Market authorization phases of drug development, in 2004 I was honored by the American College of Cardiology with the fellowship for outstanding contributions to the cardiovascular field. Owner of three patents on new methods for diagnostic imaging in heart failure, I am author of >50 publications in peer review journals.
ORE Lead – Natpar/a; Outcomes Research and Epidemiology, Internal Medicine & Endocrinology
Shire Human Genetic Therapies, Inc., Cambridge, MA, USA
Dr. Kristina Chen is Director of Outcome Research at Shire Pharmaceutical. Her current work focuses on products within the internal medicine therapeutic area including hypoparathyroidism. Dr. Chen completed her pharmacy training at the University of Michigan and fellowship training specialized in Pharmaceutical Economics and Policy at the University of Southern California. Her current work is focused on application of various health economic outcomes research methodology to evaluate value of a new treatment in the rare disease space. This includes but is not limited to understanding the natural history of a disease, disease burden, unmet need of rare conditions, cost-effectiveness assessment of new treatments, patient reported outcomes (PRO) instrument development and validation for a specific disease, and real world evidence generation to understand value of a new product. In the past years, her research has focused on hypoparathyroidism.
Nordic hypoPARA Organisation, Oslo, Norway
Helen Dahl-Hansen is the Chief Executive and founder of the Nordic hypoPARA Organisation, officially registered in Norway in 2005. She helped to found the independent Danish and Swedish organizations. Today the organization has Norwegian single members with the disease and function as an Umbrella organization for Sweden and Denmark. The organization is a member of Eurordis and Rare Diseases International. Helen is a nurse with a long clinical practice and has worked ten years as a leading nurse in the surgery department at Oslo University hospital. Her master education is in Public Health Nursing. She has worked to plan, initiate, implement and develop health-promoting and preventive work for children, young people and their parents in health centers and schools. She also has a master education in Traditional Chinese Medicine, organized for doctors, nurses and physiotherapists. She worked as a Traditional Chinese Acupuncturist for five years in private practice with her own patients. Helen also worked as a sales representative of medical equipment’s to Norwegian hospitals (x-ray, anesthesia and gastrostomy). She has suffered from Hypoparathyroidism for twenty years. These years she has worked to support people who suffer from Hypoparathyroidism and to learn in depth the disease mechanisms behind Hypoparathyroidism and its treatment options. She is an ESE nurse member.
Founder and CEO of Hypopara UK
Hypopara UK, East Grinstead, UK
Liz Glenister is the founder and CEO of Hypopara UK, the national patient organisation providing support and information for people with parathyroid conditions in the UK and Ireland. She has been campaigning since 2005 to raise global awareness of the continuing unmet needs of patients and has contributed to numerous publications on hypoparathyroidism.
Director of Real World Evidence at Adelphi Real World
Adelphi Real-World, Bollington, UK
Nawal Bent-Ennakhil is a Director of Real World Evidence at Adelphi Real World, where she leads real-world studies across multiple disease areas including healthcare database analyses, retrospective chart reviews and cross-sectional studies from physician, patient and caregiver perspective. She has several master’s degrees including biochemistry from the University Pierre Marie Curie, information science from the Nancy I university and pharmaceutical marketing from the Faculty of Pharmacy Paris XI.
Observational Research Manager & Associate Manager, Observational Research, Adelphi Real World
Adelphi Real-World, Bollington, UK
Davneet’s current position is with Adelphi Real World as an Observational Research Manager. The role entails providing support across the full lifecycle of all observational non-interventional and market research real-world studies, from study design to publication. She has a list of publications illustrating her experience across a range of disease areas and study types. Davneet graduated from the Keele University with a Bsc (Hons) in Biomedical Science and holds an MSc from Aston University.
As an Associate Manager Katie conducts observational real-world studies at Adelphi Real World. Katie has experience in managing a range of observational design methodologies including patient, caregiver and physician surveys, retrospective chart reviews, database studies and non-interventional studies.
Consultant Metabolic Bone Disease Core Group and Professor of Medicine
Mayo Clinic Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, MN, USA
Dr. Clarke is Consultant in the Metabolic Bone Disease Core Group in the Division of Endocrinology, Diabetes, Metabolism, and Nutrition at the Mayo Clinic, and Professor of Medicine in the Mayo Clinic College of Medicine. He completed his medical training at the UCLA School of Medicine, and residency and fellowship training at the Mayo Graduate School of Medicine. His current clinical research interests include parathyroid disorders, including hypoparathyroidism and primary hyperparathyroidism, postmenopausal osteoporosis, glucocorticoid- and transplantation-induced osteoporosis, and tumor-induced osteomalacia. He is President of the American Society for Bone and Mineral Research, and a member of the American Association of Clinical Endocrinologists, Endocrine Society, and the American College of Physicians. He has served as a member of the Editorial Board for the Journal of Bone and Mineral Research, served on the FDA Reproductive Health Drug Advisory Board, and is a current chair of the Mayo Clinic Institutional Review Board.