Area of expertise and Healthcare Provider’s contribution to care for patients within the MetabERN Network
Assistance Publique – Hôpitaux de Paris – UNIVERSITY HOSPITAL – Paris Nord Val de Seine, HUPNVS, Beaujon
University Beaujon Hospital is a designated Reference Centre for Lysosomal Diseases (RCLD) since 2004. The first French national plan for Rare Diseases (RD) (2005-2008) launched, at the demand of patients’ associations, structured organisation of healthcare for RD patients. By the end of the first plan many reference centres were certified by the Ministry of Health and received a specific funding for their missions. Beaujon Hospital received this designation. Nadia Belmatoug, MD involved in Gaucher disease since 1990 was designed as coordinator. Between 2009 and 2012, the reference centres were evaluated, through self-evaluation after 3 years as a designated centre:, then through an external evaluation on the fifth years organised by the Haute Autorité de Santé (HAS) and published in its 2010 activity report. A new evaluation plan was organised in the 2nd national plan. Each reference centre produces an annual activity report and undergoes an external evaluation after 4 years. A permanent working group monitors the annual activity in PIRAMIG that is the evaluation program (pilotage des rapports d’activité des missions d’intérêt général) and gives an opinion to the Ministry of Health on the renewal of the designation of reference centres in 2013, 2014 and 2015 and in the “national networks for RD” named “Filière G2M” in which the centre is included. RD centres were also evaluated by the High Council of the Evaluation of Research and Education (HECERS). The labelling was renewed in 2017 by the Ministry of Health for the 3rd plan rare diseases.
Area of expertise
The RCLD is a multi-sites Centre dedicated to the management of patients with Lysosomal Diseases (LD). LD are very heterogeneous multisystemic diseases including asymptomatic patients to severe patients: Active file is around 500 patients (more than 1000 in our institutional registries).
Care are given directly in the multisite Centre or indirectly if facilities and equipment are available in the local hospital to avoid patients transportation. RCLD is a referral Centre for handling complicated and emergency cases.
A designated pediatrician and adult expert are responsible for one or several LD.
Multidisciplinarity, collaborative approach, coordination, symptomatic and specific care for disabled patients, epidemiology and registries, reactivity to give expertise by mail and phone to talk remotely with physicians and patients; mobility of the experts, transition programmes from childhood to adulthood, enzyme replacement therapy for outpatients, home therapy, clinical trials, research are the main characteristics of the Centre.
HCP provide the best care to the patients with various platforms. High-level specialized performances with multi-teams meetings. 30 to 40 multi-teams meetings/year. Each specialty is represented included paramedics, psychologists, dieticians, social workers. Surgical meetings includes: orthopedics, neurosurgeons, anesthetists, pediatricians and internists are planned for MPS patients. Meetings for transition from childhood to adulthood, regular multidisciplinary meetings locally and with external consultants in structured national organizations that exist since 2000 : CETL (Treatment Evaluation Committee for Lysosomal Diseases), CETGaucher, CETFabry, CETMPS, CETNeurolipidosis etc. These committees are integrated and are working since 2005 in close collaboration with the network Filière “G2M”, Groupement des Maladies Métaboliques). The aim of these meetings and committees is: to retrospectively review patients’ clinical stories and files in the setting of various scenarios: diagnosis, monitoring, treatment, adverse events for LD patients care. The centre with the different committees organizes meetings named “morbi-mortality reviews” (RMM) to discuss severe outcomes. HCP contributes to the continuous onsite training for LD : nurses, dietitians, residents, interns, fellows and medical students etc. (french and foreigner) and delivers pluri-annual teaching courses focusing on management and care for LD patients. Teaching courses in LD organized by HCP locally and in other university hospitals Beaujon has a 3 research Departments called DHU organizing teaching courses for trainees (medical and research) involving lysosomal medical staff (http://hupnvs.aphp.fr/dhu/). Clinical research department in Beaujon Hospital give methodological assitance, clinical trials, monitoring and coordinating data management (http://hupnvs.aphp.fr/liste-des-specialites/epidemiologie-recherche-clinique-beaujon/).
Healthcare provider’s contribution to care of the patients
RCLD has set up the following interventions intended to improve patient centered care and patient empowerment:
– Short medical deadline for consultation 1 week or less, no delay for LD dedicated consultations and hospitalizations organized through a specific pathway by dedicated and specialized secretary and nurses. Easy identification and information of the CRML through websites, association of patients, leaflets, counters displays in different places, online video, slides, television, etc.
– Therapeutic Patient Educational Programs
Within the scope of a national decree on therapeutic educational programs, Beaujon Hospital has formally been established by the Regional Health Agency (arrêté du 23/12/2010) to offer many therapeutic educational programs covering all diseases managed by the healthcare provider. The programs offered are designed to train patients and family members in the skills of self-managing or adapting treatment to their particular disease, and in coping processes and skills. Therapeutic patient education is education managed by the Centers health care providers trained in the education of patients and families, and designed to enable a patient/family member to manage the treatment of their condition and prevent avoidable complications, while maintaining or improving quality of life. Its principal purpose is to empower patients and produce a therapeutic effect additional to that of all other interventions (pharmacological, physical therapy, etc.).
– Continuity between and within services – transition from pediatrics to adult medicine: the Centre provides a multidisciplinary consultation platform for patients ready to be transferred to the adult department. Timing of transition is based on the maturity of the child rather than calendar age. The name of the program is TENALYS (Transition ENfants Adultes dans les maladies LYSosomales).
– Access to appropriate care when needed: APHP provides patients and families with sick-day protocols and emergency management documents. There is a 24/7 telephone service and a permanent dedicated LD team is available. Home care is also organized when appropriate.
– Numerous multidisciplinary consultations, with one specialist as the referent for the patient 30 to 50 multidisciplinary consultations
– Survey to patients and families on quality of care: the services provided by the Centre are evaluated through satisfaction questionnaires completed by patients, family and healthcare professionals. Meetings and weekends with the associations of patients to share information with them.
– Staff training and education to ensure patient centered care: Therapeutic education between network, care network documents, written procedures and protocols
– The implementation of dedicated team for dedicated consultations (expert’s physicians, nurses, etc.).
– Shared discussions and meetings with the different teams of APHP-Hospitals for specific procedures: surgery, anesthesia, transplantation, etc.
Specific treatment and intervention provided by the HCP
- At the diagnostic level: biochemical diagnosis, metabolomics, genetic analysis; imaging, 2 MRI, 3CT-scan PET-scan (www.aphp.fr Site Beaujon, Pitié Salpétriére, Trousseau)
- At the patient management level: ERT, therapeutic educational programs: the aim is to help patients and families to take control of their disease. Walking and movement analysis; physiotherapy,
- At the treatment level: surgery, intensive care department, heart and liver transplantation, palliative care and treatment, mobility of the experts, multidisciplinary consultations, transition programmes from childhood to adulthood (TENALYS program), enzyme replacement therapy for outpatients, home therapy, multidisciplinary pain Centre, high specialized pharmacists,
- At the education level: research and training level: fundamental researches, clinical trials.
- At the epidemiological level : The Centre has numerous academic national registries: The French Gaucher registry, RaDiCo (MPS), Niemann Pick C, Fabry disease data base (O. Lidove), Bio-banks are affiliated to registries.
- Several physicians of the Centre are expert at the social security for approval of treatment.
- At the associative level: Collaboration with patients’ associations; most of the experts of the CRML are member of the scientific committee of VML (Vaincre les Maladies Lysosomales) and APMF (Association of Patients for Fabry disease) and work closely with these 2 association. N. Belmatoug is : member of Maladies Rares Infos Services, works with Alliance Maladies Rare, is member of the EGA (European Gaucher Association).