Page 21 - CIBERER2016-ENG

Inherited Metabolic Medicine
Coordinator: Rafael Artuch
In 2016 the 12 groups and 6 linked clinical groups in the Programme obtained relevant scientific results and got under way a large number of strategic actions to tackle RD with the basic feature of alteration of the homeostasis caused by mutations in genes connected with intermediary metabolism. We should stress some milestones and activities:
PARTICIPATION OF GROUPS IN THE FOLLOWING EUROPEAN REFERENCE NETWORKS:
• Rare Neuromuscular Diseases (EURO-NMD): Mireia del Toro, from the Hospital Vall d´Hebron-GCV 9.
• Rare Hereditary Metabolic Disorders (METAB-ERN): Ma Luz Couce from the Hospital de Santiago de Compostela-GCV 5, Luis Aldámiz Echevarría from the Hospital de Cruces-GCV 10, Mireia del Toro from the Hospital Vall d´Hebron-GCV 9 and Rafael Artuch from the Hospital San Joan de Déu-U703.
• Rare Neurological Diseases (ERN-RND): Rafael Artuch from the Hospital San Joan de Deu-U703 and Mireia del Toro. Hospital Vall d´Hebron-GCV 9.
ACHIEVEMENTS IN THERAPEUTIC AND CLINICAL ASPECTS OF THESE DISEASES:
• Designation of 2 orphan medicines by the European Medicines Agency (EMA):
- Temsirolimus, as an orphan drug for treatment of adrenoleukodystrophy. The studies on the possible application of this orphan medicine for treatment of X-adrenoleukodystrophy, which were until now limited to animal models of the disease, have been developed by U759 (Dr. Pujol) and U721 (Dr. Knecht).
- Ubiquinol as an orphan drug for treatment of primary coenzyme Q10 deficiency. The studies on the possible application of this orphan drug for treatment of primary coenzyme Q10 deficiency were directed by U729 (Dr. Navas), with the cooperation of U703 (Dr. Artruch).
• Therapeutic strategies in different diseases studied at the PdI such as hyperoxaluria, MLC, or the first proof of concept of a possible treatment for glycosylation disorder PMM2- CDG.
MEETINGS, EVENTS OF INTEREST:
• About 150 persons attended the 6th edition of the Jornada del Grupo de Enfermedades Minoritarias del
Adulto at the Hospital Clínic in May, co-organised by group U737 (Dr. Ribes).
• 12 Congreso del Grupo Europeo de Enfermedad de Gaucher (EWGGD) held in Saragossa in June with the attendance of 278 researchers, healthcare professionals and patients of the European Gaucher Alliance, from 42 countries, and at which over 80 pieces of work were presented. Several CIBERER researchers from different groups attended. Arranged by the U752 (Dr. Giraldo).
• Specialist and families took part in the first Jornada de la Asociación de familias con deficiencia de GLUT-1. Different CIBERER researchers took part, from Units 703 (Dr. Artuch), 729 (Dr. Navas), 746 (Dr. González), GCV6 (Dr. Pérez González) and GCV5 (Dr. Couce).
CLOSE COOPERATION WITH PATIENTS
• Donation of 32,400 euros thanks to the Asociación Síndrome del Opitz C for research into identification
of the genes causing this pathology, done by U720 (Dr. Grinberg).
• Micro-sponsorship campaign collecting 20,000 euros promoted by affected families assigned to research into this disease, x-linked adrenoleukodystrophy (X-ALD) carried out by U759 (Dr. Pujol).
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Scientific Programmes 21