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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 

gruppo londra From London Meeting: October 2011

The network is composed by the following organisms:

  • A Steering Committee which includes the project coordinator, the programme manager, a financial officer, and associated partners
  • An advisory board which includes associated and collaborative partners
  • Working groups


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.


Marek Migdal: Dr Marek Migdal MD, PhD (Children’s Memorial Health Institute) is head of Paediatric Intensive Care Unit of CMHI. He has a long experience in clinical management of newborns, children, and young adolescents suffering from severe respiratory failure or multi-organ failure. The ICU includes 10 intensive care beds, caring for approximately 280-300 patients per year. Since 2000, he is also in charge of  a national programme of home ventilation for children. This programme includes currently 41 children originating from all areas of Poland (among whom 4 children have CCHS).


Prof. Dr. med. Jochen PETERS Prof. Dr. med. Johannes G. SCHÖBER Dr. med. Silke DE NEGRI: From Schwerternschaft der Krankenfürsorge des Dritten Ordens K.d.ö.R 1. 1. Prof. Dr. med. Jochen PETERS, chief physician of the Pediatric Department since 01.01.2004 2. Prof. Dr. med. Johannes G. SCHÖBER, chief physician of the Pediatric Department from 1984 to december 31, 2003. 1966-1973 : He worked at the "Dr von Hauner'sches Kinderspital" (children's university hospital of Munich) and specialized in pediatrics, neonatology and pediatric intensive care. 1973-1984 : He was the head of the pediatric intensive care unit at the "German Heart Centre of Munich". During that time, he specialized in pediatric cardiology. 1984-2002: He was the chief physician of the "Kinderklinik an der Lachnerstraße" (Munich). 2002-Dec 2003 : He was the chief physician of the Pediatric Department at the "Klinikum Dritter Orden". He has a 30 year-experience with CCHS patients. Together with H.D. Pache and coworkers, he published in 1978 the first German cases with CCHS (see Mü 120, p. 1049, 1978). Together with H. Meisner, he started in 1980 the breathing pacemaker programme for CCHS patients (see H. Meisner, J.G. Schober et al, Thorac. Cardiovasc. Surgeon 31, p. 21, 1983). In the years 1992-1994, he performed an epidemiological study : Prevalence and incidence of Ondine's syndrome in Germany (Mschr.Kinderheilk. 142, suppl.1, p.32, 1994). Also, after retiring, he continues to be involved in the follow-up of CCHS patients. Dr. med. Silke DE NEGRI, assistant doctor in pediatrics since 2004. She is specialized in the treatment of CCHS patients.


 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.

update: 10/01/2012

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