Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Lyon University Hospital
The CERLYMM belongs to the HCL (Hospices Civils de Lyon). It is located in the Woman Mother Children hospital (HFME), which belongs to the East Hospital Grouping (GHE), 59 boulevard Pinel, 69677 Bron Cedex. The CERLYMM is on the fourth floor and has four functional units: UF 34332 for day hospitalization, UF 34330 for conventional hospitalization, UF 34331 for week hospitalization and UF 34334 for out patients. Our IMD reference centre delivers care for children and adults affected with all inherited metabolic diseases. We works in direct collaboration with a certified IMD laboratory (Dr Saban) which is on the site and facilitates the diagnosis of new patients, disease follow up: biochemistry tests (PKU, Amino Acids, Organic Acid, Acyl carnitine, oligosaccharide, GAG…), enzyme activities analysis, molecular genetic analysis, neonatal screening, prenatal diagnosis… The GHE groups together all specialized pediatrics services, gyneco—obstetric department, adult’s services (endocrinology, cardiology, pneumology, neurology, intensive unit care), genetic department, dietetic unit, social services, rehabilitation, palliative care, school. This is very important as IMD involved multi—organs and coordination is required between specialities. This provides also a high quality transition care from pediatric to adult.
Our Centre follows about 1 000 patients with IMD per year with about 150 new diagnosis per year. About 3% of patient comes from abroad.
Since 1999, our IMD Reference Centre contributes to clinical trials (phase I/II, III, IV) as a principal investigators or coordinators (MPSI, II, III, IV, VI, Fabry, Pompe, Alpha—mannosidosis, Niemann Pick B, OTC, Aciduria Organic disorder….). Some of them were integrated into European Project (Alpha— mannosidosis). Our
IMD Reference Centre is involved into international Registries after clinical Research program sponsored by pharmaceutical labs or institutional.
Our IMD Reference Centre collaborates with others French IMD Reference Centre in the IMD National network (filière G2M) and discuss about IMD evaluation, new/current treatments and clinical trials setting in France. National recommendations about IMD had been written to harmonize the assessment of IMD (PNDS* approved by French Health Authorities). We work also with patients associations: multidisciplinary day hospitalization, research, education…We collaborate very closely with others hospitals or home hospitalization structure (HAD**) and perform frequently trainings and medical information about IMD.
We organized at least once a year a meeting about IMD with all actors implicated into the Metabolic Rare diseases (physicians, nurses, diagnosis laboratories….).
our IMD Centre is developed a patient educational program (Education Thérapeutique du patient, ETP). The objectives are to give support to patients and families about their treatments, their quality of life, their requests and their diseases.
We have an expertise in multidisciplinary care, educational program for helping patients and families to take control of their disease, clinical research, registries and data collection, education and training for pre—graduate, graduate and fellows, dieticians, nurses.
*PNDS: Protocole National de Diagnostic et de Soin
**HAD: Hospitalisation A Domicile
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
As our IMD Centre is labelled as a National Reference Centre since 2004, we are one of the platforms to manage diagnosis, follow—up and evaluation of all IMD current and new treatments.
We manage neonates, children and adults with the 3 principal groups of IMD: IMD responsible of endogenous acute or chronic intoxication, IMD responsible of energetic deficiencies and IMD affecting the metabolism of complex molecules.
If some of them have no treatments, an increasing number is treatable with efficacy subject to an early diagnosis. We have in our centre all facilities: day hospitalization, conventional hospitalization, out—patients units, certified metabolic labs, anatomo—pathologist, all specialists for children an adult, intensive unit care for both, surgery, genetists, organ transplantation, social service, specialized dieticians, physiotherapist, speech therapist, ergotherapist.
For the PKU disease, a systematic newborn screening is performed in France. A strict dietary therapy is started at birth with specific diet food reimbursed by French Health government and we performed BH4 (Kuvan) test. Specialized dieticians are available for managing and adapting all treatments.
For others diseases, we have:
– Specialized dieticians who manage all dietary therapy in all metabolism deficiency of amino acids, organic aciduria, glycogenosis, galactosemia, fructosemia and organize cooking classes.
– An emergency 24h/24h mobile phone (permit to join IMD doctors) for patients, parents and doctors
– Emergency care unit/intensive unit care in case of acute decompensation with possibility of extra-corporeal epuration if needed
– Organ transplant (liver, kidney, cornea…), Hematopoietic Stem Cell Transplantation
– All necessary ophan drugs: Nitisinone, Sodium benzoate, sodium phenylbutyrate, carbamylglutamic acid, cystadane, BH4, specific vitamin therapy, chaperon molecule, recombinant human enzyme replacement therapy, substrate reduction therapy, gene therapy…
Our IMD Centre actively contributes to clinical trials (sponsored by pharmaceuticals labs or institution). For some of the clinical trials managed in Europe, we permitted to include French patients into clinical trials based in Europe (UK, Germany, Danemark….). We also included patients from other EU countries in clinical trial. Currently, clinical trials with ERT in Alpha-mannosidisis, Niemann Pick type B, IT delivery In MPS II are ongoing.
We develop Home infusion and woks in an auto—perfusion program with Fabry patients. We perform training of local hospitals and HAD.
We have weekly meeting with dieticians, monthly meeting with the labs to discuss diagnosis difficulties.