Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Hôpitaux Universitaires Paris Ile de France Ouest
Paris, FRANCE
The Center of Excellence “Généo” for Fabry disease and rare inherited metabolic disorders of connective tissue (Head: Prof. Dominique P. Germain, MD PhD) at Hôpitaux Universitaires Paris Ile de France Ouest (HUPIFO) provides an expert structure for the management and care of patients affected with Fabry disease, mucopolysaccharidosis (MPS, = metabolic disorders of connective tissue), rare genetically-proven Ehlers-Danlos syndromes due to enzymatic deficiencies, and pseudoxanthoma elasticum (a rare inherited metabolic disorder of connective tissue due to deficient activity of ABCC6, a membrane transporter).
Généo is part of the metabolic national network “Filière de santé maladies rares (FSMR)” G2M.
Généo / HUPIFO brings together multidisciplinary competences, including enzyme replacement therapies, pharmacological chaperone therapy, imaging (brain and cardiac MRI, CT scan), nephrology with dialysis facilities, cardiology (24h holter ECG, echocardiography, strain rate, scintigraphy, coronaroscanner), neurology, center of clinical excellence for the treatment of pain, rehabilitation, psychological support and social services for patients and their families. It provides a planned transition care and support from the pediatric unit to adult services (medical genetics).
Généo / HUPIFO has specialised laboratories with available lysosomal enzyme diagnostic assays (alphagalactosidase, iduronidase, iduronate sulfatase and arylsulfatase B) performed on white blood cells and dried blood spots, Sanger sequencing (GLA and ABCC6), X chromosome inactivation studies and links and access to a next generation sequencing laboratory which has developed a DNA chip for the diagnosis of rare genetic metabolic Ehlers-Danlos syndromes (ADAMTS2, B3GALT6, B4GALT7, CHST14, COL5A1, COL5A2, FKBP14, PLOD1).
Généo collaborates with patient organisations in particular the Fabry International Network (FIN), Vaincre les Maladies Lysosomales (VML, for Fabry disease and MPS) and Association Française des Syndromes d’Ehlers-Danlos (AFSED) for the rare genetically-proven metabolic EDSs due to enzymatic deficiencies.
Généo has contributed to the development of accessible information adapted to the specific needs of patients and their family.
Généo / HUPIFO has contributed to the writing of good practice guidelines (“PNDS”) for several disease areas including Fabry disease, MPS and rare genetically proven metabolic Ehlers-Danlos syndromes.
Généo / HUPIFO provides education and training to pre-graduate, graduate, residents, and fellows.
Généo is part of international genetics societies and regularly lectures at the SSIEM meetings.
Généo contributes to clinical and translational research including multinational multicenter randomized control trials, natural history studies, registries, and research on the long-term effects of treatments.
Généo / HUPIFO contributes to the French national registry of rare diseases (BNDMR/CEMARA).
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
HUPIFO (Généo Center) has a long standing expertise in the care of patients with Fabry disease, MPS , rare metabolic Ehlers-Danlos syndromes, and PXE.
The division (Clinical Genetics) leading this candidacy contribute to the global care of patients and their families by offering clinical diagnosis, genetic testing, familial screening, genetic counseling, evaluation, follow up and coordination of the day care of patients with FD, MPS, rare EDS, and PXE. Over 15 clinical trials for patients with FD have been conducted during the last 15 years. Généo has strong connections with cutting edge in-house medical research (INSERM U1179).
For FD, Généo center has been tightly associated with the clinical development program of agalsidase beta, a recombinant form of human alpha-galactosidase. Généo has contributed to the phase III pivotal randomized controlled trial (1999-2000) and have followed-up the patients ever since. Généo has one of the world largest cohort of patients affected with FD with over 250 patients under the care of the team led by Prof. D. Germain.
Généo provides the structure for i.v. administration of agalsidase alfa and agalsidase beta and for clinical trials.
All patients benefit from a diligent annual work-up to carefully assess their health and the outcomes of ERT.
Data have been published on outcomes of ERT after 3, 5 and 10 years of treatment.
Généo has also been a leading investigational site for the development program of migalastat, the first pharmacological chaperon for patients with FD and mutations “amenable” to migalastat. This is one of the first examples of the development of precision medicine for the care of patients with a rare genetic disease.
The CHMP from the European Union has recently granted positive opinion to migalastat.
Généo is also currently engaged in a clinical trial to assess the safety and efficacy of a novel substrate reduction therapy (SRT) for patients with FD.
Haemodialysis is available for patients with end-stage renal disease (ESRD).
A patient centered program for at home enzyme replacement therapy has been developed by our center of excellence since more than 10 years.
Généo is also a leading site for the implementation of new therapies for FD at the national level (e.g., first prescriptions of pharmacological chaperones in France following the authorization from the French Medicine Agency under “ATU program”).
For patients with PXE, intravitreous injections of ranibizumab / bevacizumab are available in our center for the treatment of decreased visual acuity due to neovascularization of the retina in patients with PXE.
For rare metabolic EDS, techniques have been developed for the care of cutaneous delayed wound healing and dystrophic scars …) based on skin care. An equipment for skin surgery is available in the center of reference (Généo).
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