In 2002 and 2007 two international meetings on CCHS were organized in Europe: in France (Paris) and in Italy (Genoa) respectively. Clinicians, researchers and families from all over the world attened the meeting. These events allowed a better knowledge among all persons involved in the care of the disease through Europe. As a consequence an European group of clinicians started to cooperate from 2007. The first meeting of the group took place in Paris, in January 2007. The project scientific coordinator is Dr. Ha TRANG, from the ROBERT DEBRE HOSPITAL , DEPARTMENT OF PHYSIOLOGY, Paris, France and at this time other 13 countries are included
From London Meeting: October 2011
The network is composed by the following organisms:
The following clinicians are already involved in the project.
Ha Trang: Associate Professor of Physiology. She is head of the Pediatric Sleep Center of Robert Debré hospital, coordinator of the French national Centre of reference for CCHS since 2004 (National Plan for rare diseases). She is the initiator, one of the founders and actual coordinator of the European CHS consortium (since 2005). She has been involved in management of CCHS patients since 1995. She ensures diagnosis in neonates and children, assesses end-organ function and determines treatment of patients with CCHS. Patients originate from all areas of France and abroad. She is a core member of the french CCHS group which includes Claude GAULTIER, Stanislas LYONNET, Jeanne AMIEL, and others. The french group has contributed to key advances in knowledge in CCHS in the past few years : identification of PHOX2B as the CCHS-causing gene, description of CCHS cardiac and digestive phenotypes, phenotype/genotype correlations, implementation and coordination of a French CCHS registry. She coordinates the French National Centre of reference for CCHS which includes medical and research teams from 3 university hospitals of APHP (Robert Debré, La Pitié and Necker). The group is multidisciplinary, including physicians and specialists from pediatric and adult medicine, clinical researchers, basic scientists and epidemiologists. Robert Debré hospital is dedicated to CCHS children, La Pitié hospital to CCHS adults, and Necker hospital to genetic diagnosis. Ha TRANG coordinates different working groups of the French Centre of reference for CCHS in order to promote research, to provide epidemiological information, to give high-quality diagnosis and treatment, to produce french guidelines for diagnosis and treatment of CCHS, to recommend social assistance and social services to children and adults with CCHS, and their families. She has frequent contacts with international and french CCHS patient support groups Key staff includes : - From Robert Debré hospital : Stephane DAUGER (MD, PhD, intensivist, head of PICU, research on mouse models with CCHS), Dominique BREMOND (MD, PhD, head of the department of ophthalmology, involved in several national research projects), Juliane LEGER (MD, PhD, endocrinologist, coordinator of the French center of reference for rare growth disorders), Isabelle HUSSON (MD, PhD, neurologist, leading several research projects on rare diseases), Marc BELLAICHE (MD, gastroenterologist), Elisabeth CARRICABURU (MD, surgeon), Corinne ALBERTI (MD, statistician, epidemiologist), etc.. - From La Pitié hospital : Christian STRAUS (MD, PhD, associate professor of Physiology, animal and clinical research on control of breathing), Thomas SIMILOWSKI (MD, PhD, pneumologist, head of the respiratory department and ICU, many research topics including phrenic nerve pacemaker), Jesus GONZALEZ (MD, pneumologist, expert in ventilation support, involved in several research projects at national/EU level), and other specialists, cardiologists, etc... - From Necker hospital : Stanislas LYONNET and Jeanne AMIEL (MD, PhD, geneticists, involved in clinical and basic research at European and international levels on Hirschsprung disease, CCHS and other genetic diseases).
Giancarlo Ottonello: has been working on CHS disease since 1998. He is one of the Italian clinicians involved in the care of these patients and collaborate with all other Italian groups. He published several articles on this disease. Together with Isabella CECCHERINI, he organized the third International CCHS Meeting in Italy, Sestri Levante, in 2007. During this meeting, a workshop for the European CHS took place to extend the geographical coverage.
Professor M. KATZ-SALOMON Dr MARKSTROM (Karolinska Institutet): is Associate Professor in Anesthesiology. She works in collaboration with Associate Professor M. KATZ-SALOMON, and Professor H. LAGERCRANTZ (Dpt of Woman and Child Health, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden). Cardio-respiratory recordings are performed in children with CCHS for diagnostic and research purposes. In order to investigate disturbances in autonomic control, current projects focus on early development of cardiorespiratory control, brainstem neuronal networks and their associations with normal and disordered breathing. Studies are performed both in patients and animal models. Three main projects aim at : 1) Characterizing the normal and pathological development of respiratory control in neonates and children. 2) Determining mechanisms behind apneas associated with infection in neonates. 3) And investigating the occurrence of benign familiar neonatal infantile seizures and their association with respiratory dysfunction. Recent publications : 1) Cohen G, Lagercrantz H., Katz-Salamon M. Abnormal circulatory stress responses of preterm graduates. Ped Res 2007;61(1-3). 2) Bohlin K, Gudmundsdottir T, Katz-Salamon M, Jonsson B, Blennow M. Implementation of surfactant treatment during continuous positive airway pressure. Accepted in J Perinat 2007-06-18. 3) Rohdin M, Fernell E, Eriksson M, Albåge M, Lagercrantz H, and -Salamon M. Disturbances in cardio-respiratory function during day and night in Rett syndrome. Pediatric Neurology 2007;37(5). 4) Hofstetter AO, Legnevall L, Herlenius E, Katz-Salamon M. Cardiorespiratory development in extremely preterm infants: vulnerability to infection and persistence of events beyond term-equivalent age. 2007 accepted Acta Pediatrica.
Dr Martin SAMUELS: University Hospital of North Staffordshire (UHNS) United Kingdom, Stoke-on-Trent Martin Samuels MD is a consultant paediatrician in the Academic Department of Paediatrics, North Staffordshire Hospital, Stoke on Trent.
Dr. Matthias Frerick studied medicine at Marburg`s Philipps-University and Munich`s Ludwig-Maximilians-University. He then started working at the Children`s Hospital "an der Lachnerstraße" in Munich in 2000. Under the guidance of Prof. Schöber he started caring for CCHS patients then and continued his work ever since. Apart from his clinical work, he alwas was and is a teacher at the hospital`s School of Nursing.
His special interests are home mechanical ventilation and peadiatric sleep medicine.
Dr. Moritz Rohrbach works at Kinderklinik Dritter Orden in Munich, Germany on the intensive care unit. He is specialized in pediatrics and is mainly involved in the traetment and follow up of CCHS-Patients and other home mechanical ventilated patients. These Patients are ventilated via trcheostomy, mask or phrenic nerve pacemaker.