French national reference center for lysosomal diseases (CRML)
The reference center for lysosomal diseases(CRML), coordinated by Dr Anaïs Brassier, deals with all lysosomal overload diseases of children and teenagers, including prenatal onset. It is involved in prenatal diagnosis and genetic counseling in conjunction with the metabolic and genetic biochemistry department of the Necker-Enfants malades hospital.
The center is available for consultation, day hospitalization (enzymotherapies, substrate reduction therapies) and traditional hospitalization (follow-up assessments or emergencies).
Observational and therapeutic clinical trials are carried out at the center. The LYSO multidisciplinary team (doctors, nurses, physiotherapist, social worker, psychologist) relies on a multidisciplinary platform of excellence to take care of the clinical, medico-social and therapeutic education of patients and their families. Professionals are trained in the specific nature of these diseases, which can involve multiple organ damage, as well as neurodegenerative pathologies leading to multiple disabilities.
The Necker site works in close collaboration with competence centers, other reference centers and patient associations throughout France.
This reference center is affiliated with the G2M rare diseases healthcare network and the MetabERN European reference network (ERN).
> Find out more about the reference center for lysosomal diseases (CRML)
> Find out more about the treatment evaluation committee for lysosomal diseases (CETL)
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Medical
team
Dr Anaïs Brassier
MD
The objectives of the CRML, in line with those of the G2M network, are as follows:
- Diagnosis and management : continue to improve diagnosis and management of patients in France as part of the national “diagnosis for all” program, by pursuing cross-functional actions with the France Genomic Medicine Plan, the Diagnosis Observatory, other networks, European reference networks (MetabERN, EPNET, EuroBloodNet) and the European Joint Program.
- Research : facilitate connections between research teams, reference centers and diagnostic laboratories, and the various reference and competence centers of the CRML (a monthly meeting by videoconference) and CETL experts (multi-year meetings) to ensure a continuum between basic and clinical research, develop data warehouses for observational studies to facilitate therapeutic innovation within G2M and across rare diseases healthcare networks.
- Europe and International : The CRML wishes to strengthen its participation in collaborative European projects: international clinical and therapeutic studies, academic registries, etc.
- Training and information : With the aim of improving information on rare diseases, the CRML will continue to participate in the drafting and review of national diagnostic and care protocols (PNDS), to be involved in teaching (Post-graduate degree, UD and IUD, DPC, paramedics) and the implementation of therapeutic education programs, to collaborate on clinical-biological research projects and to disseminate knowledge (national and international scientific congresses).
- Ethical reflection : Several CRML members are involved in the “Ethical Reflection” working group of the G2M healthcare network, whose main areas of focus are diagnostic announcement, the place of new therapies, the transition from children to adults, neonatal screening, screening for heterozygotes, genetic information for families, ethical monitoring within the branch, palliative care and end-of-life support, and assistance in drafting “remarkable patient” certificates.
- Gaucher disease (type I, II, III)
- Mucopolysaccharidoses type I, type II, type III A–B–C–D, type IV, type VI, type VII, type IX
- Fabry disease
- Acid sphingomyelinase deficiency
- Niemann-Pick disease type C
- Ceroid lipofuscinoses
- Lysosomal acid lipase deficiency : Wolman disease and CESD
- Pompe disease
- Metachromatic leukodystrophy
- Austin disease
- Tay-Sachs, Sandhoff diseases
- GM1 gangliosidosis
Dr Anaïs Brassier
MD
Dr Samia Pichard
MD
Dr Juliette Bouchereau
doctor
Roumaisah Saidi
project manager
Valérie Barbier
psychologist
Virginie Leboeuf
social worker
Sophie Bustos
medical-administrative assistant
Aude Pion
referent registered nurse
Dr Catherine Caillaud
MD, PhD
Dr Edouard Le Guillou
PharmD
- Title of program : ETP program for people with lysosomal diseases treated with enzyme therapy.
Contact : Dr Samia PICHARD
Additional information : Patients over 12 and/or parents caring for children with lysosomal diseases treated with intravenous enzyme replacement therapy. - Other programs
- Survival analysis of French patients with ASSUR acid sphingomyelinase deficiency (ASMD: acid sphingomyelinase deficiency): a retrospective data review study. Sanofi
- A retrospective and prospective longitudinal cohort study to refine and expand the knowledge on patients with chronic forms of Acid Sphingomyelinase (EXPAND) Sanofi
- Mini COMET-Open-label, dose-ranging cohort study evaluating the safety, pharmacokinetics and preliminary efficacy of avaglucosidase alfa (neoGAA, GZ402666) in patients with infantile-onset Pompe disease treated with alglucosidase alfa and showing clinical deterioration or suboptimal clinical response.
- Protocol for rh ASM replacement therapy in Niemann Pick B disease- DFI13803 ASCEND Peds-. Sanofi
- PDY13949 /PDY16963 (Europe cohort 3) – LEAP2IT – Three-part study to evaluate the efficacy and safety of venglustat in combination with Cerezyme in adult and pediatric patients with Gaucher disease type 3 (GD3) with long-term open-label treatment. Sanofi
- Prospective study on the consequences of COVID-19 on the equilibrium of hereditary metabolic disease (HMD) in patients contracting or having contracted COVID-19. CHRU de Lille, finalized.
- Treatment in Lipase acid deficiency” Cholesterol ester storage disease. Alexion, finalized.
Cohorts
- National Gaucher Disease Registry (CNIL 2004 – Authorization no.: 05-1099)
- RADICO -MPS (CNIL 2016 – CCTIRS n°16-570)
- Hereditary metabolic diseases IUD
Paris Cité university - Genetics/Dysmorphology UD
Paris Cité university - Internal medicine IUD
- Post-graduate degree in pediatrics
French Pediatric Society
2024
– In vivo corneal confocal microscopy revealing Gaucher disease in a child.
Martin GC, Brassier A, Gabison E.
Can J Ophthalmol. 2024 Jan 20:S0008-4182(23)00388-5. doi: 10.1016/j.jcjo.2023.12.008. Online ahead of print.PMID: 3825331
2023
– Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, Haack KA, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, Chien YH; Mini-COMET Investigators.
Genet Med. 2023 Feb;25(2):100328. doi: 10.1016/j.gim.2022.10.010. Epub 2022 Dec 21.PMID: 36542086
– Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, Roubertie A, Nadjar Y, Guemann AS, Tardieu M, Lacombe D, Robert MP, Caillaud C, Froissart R, Leboeuf V, Barbier V, Bouchereau J, Schiff M, Fauroux B, Thierry B, Luscan R, James S, de Saint-Denis T, Pannier S, Gitiaux C, Vergnaud E, Boddaert N, Lascourreges C, Lemoine M, Bonnet D, Blanche S, Dalle JH, Neven B, de Lonlay P, Brassier A.
Bone Marrow Transplant. 2023 Mar;58(3):295-302. doi: 10.1038/s41409-022-01886-1. Epub 2022 Dec 9.PMID: 36494569
– Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B.
Eur J Neurol. 2023 Sep;30(9):2828-2837. doi: 10.1111/ene.15894. Epub 2023 Jun 10.PMID: 37235686
– Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B.
Orphanet J Rare Dis. 2023 Jul 21;18(1):204. doi: 10.1186/s13023-023-02804-4.PMID: 37480097
– Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Brassier A, Pichard S, Schiff M, Bouchereau J, Bérat CM, Caillaud C, Pion A, Khraiche D, Fauroux B, Oualha M, Barnerias C, Desguerre I, Hully M, Maquet M, Deladrière E, de Lonlay P, Gitiaux C.
Mol Genet Metab. 2023 Aug;139(4):107650. doi: 10.1016/j.ymgme.2023.107650. Epub 2023 Jul 11.PMID: 37454519
– A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.
Gardin A, Mussini C, Héron B, Schiff M, Brassier A, Dobbelaere D, Broué P, Sevin C, Vanier MT, Habes D, Jacquemin E, Gonzales E.
J Pediatr. 2023 Mar;254:75-82.e4. doi: 10.1016/j.jpeds.2022.10.015. Epub 2022 Oct 17.PMID: 36265573
When to suspect acid sphingomyelinase deficiency in children?
Recognizing early-onset lysosomal acid lipase deficiency or LAL-D
Recognizing Gaucher disease in children
Contact information
Necker-Enfants malades university hospital
> Pediatric metabolic diseases department
149 rue de Sèvres
75743 PARIS Cedex 15
In Necker, the reference center for lysosomal diseases (CRLM) in brief …
* data valid for 2022