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Clinical trial of gene therapy for MPS VI - a severe lysosomal storage disorder

Objective

"Mucopolysaccharidosis VI (MPS VI, or Maroteaux-Lamy syndrome; OMIM #253200) is a rare lysosomal storage disease caused by deficient activity of arylsulfatase B (ARSB). MPS VI is characterized by growth retardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system involvement. Thus, systemic therapies targeting peripheral organs have the potential to fully correct the MPS VI phenotype. Enzyme replacement therapy, the current treatment for MPS VI, requires weekly infusions of a costly enzyme and has limited efficacy on bone and corneal disease. Based on the encouraging preclinical results generated by our group, gene therapy based on a single intravascular administration of adeno-associated viral (AAV) vectors targeting liver has the potential to provide a lifelong source of ARSB. The MeuSIX consortium plans to conduct a multicenter phase 1/2 clinical trial to investigate the safety and efficacy of AAV-mediated gene therapy in patients with MPS VI. An orphan drug designation (ODD) has been obtained from both the European Medicinal Agency and the US Food and Drug Administration for the MPS VI therapeutic AAV vector. The results from this clinical trial proposed by the MeuSIX consortium has the potential to have a tremendous impact on the natural history of MPSVI and to significantly improve the quality of life of the affected patients. Moreover, the approach developed may facilitate the development of similar approaches for other inborn errors of metabolism."

Field of science

  • /medical and health sciences/clinical medicine/ophthalmology
  • /natural sciences/biological sciences/biochemistry/biomolecules/proteins/enzymes
  • /medical and health sciences/medical biotechnology/genetic engineering/gene therapy
  • /natural sciences/biological sciences/neurobiology

Call for proposal

FP7-HEALTH-2012-INNOVATION-1
See other projects for this call

Funding Scheme

CP-FP - Small or medium-scale focused research project

Coordinator

FONDAZIONE TELETHON
Address
Via Varese 16/B
00185 Roma
Italy
Activity type
Research Organisations
EU contribution
€ 1 790 560
Administrative Contact
Raffaella Pettorruso (Mrs.)

Participants (8)

REGENXBIO INC
United States
EU contribution
€ 1 709 809
Address
1701 Pennsylvania Ave Nw Suite 900
20006 Washington Dc
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Karen Kozarsky (Dr.)
GENOSAFE SAS
France
EU contribution
€ 777 274
Address
Rue De L'internationale 1
91000 Evry
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Severine Pouillot (Dr.)
UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO II
Italy
EU contribution
€ 819 120
Address
Corso Umberto I, 40
80138 Napoli
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Gaetana Errico (Mrs.)
HACETTEPE UNIVERSITESI
Turkey
EU contribution
€ 240 000
Address
Hacettepe Universitesi Beytepe Kampusu Rektorluk Binasi
06800 Cankaya Ankara
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Hatice Serap Sivri (Prof.)
ERASMUS UNIVERSITAIR MEDISCH CENTRUM ROTTERDAM
Netherlands
EU contribution
€ 241 278
Address
Dr Molewaterplein 40
3015 GD Rotterdam
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Ans Van Der Ploeg (Prof.)
UNIVERSITA' DEGLI STUDI DI MILANO-BICOCCA
Italy
EU contribution
€ 117 000
Address
Piazza Dell'ateneo Nuovo 1
20126 Milano
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Paola Di Rienzo (Dr.)
INFORMA SRL

Participation ended

Italy
EU contribution
€ 94 479,20
Address
Via Luigi Rava 43
00149 Roma
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Francesca Incardona (Dr.)
INFORMAPRO - SOCIETA' A RESPONSABILITA' LIMITATA
Italy
EU contribution
€ 205 520,80
Address
Via Luigi Rava 43
00149 Roma
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Dario Corsini (Dr.)