Research Projects


Completed:

XUNTA PS-0914: Development of a technology-based mass sequencing for simultaneous genetic analysis of genes associated with diabetes mellitus trial.

FIS PI10 / 01193: Development of an assay for the simultaneous analysis of 59 genetic lysosomal enzymes as a diagnostic tool for lysosomal storage diseases (LSD).

Working now:

1. We are currently developing software macro-deletions detection and diagnostics panel inserts a limited number of genes. To get funding for this project we attend to the call of 2013 of strategic action ISCIII Health (PI13 / 02177) through coordinated with the Telecommunications Technology Centre of Galicia (PI13 / 02451) Foundation project. This aid was granted only in part and therefore we ask the Ramón Areces Foundation support for items not covered by the ISCIII are those detailed in the report.

2. We are statewide coordinators through the CIBER in the draft EU: European Network and Registry for Homocystinurias and Methylation Disorders.E-HOD.

Referencia del proyecto:2012 12 02-E-HOD-PR.
Project reference: 2012 12 02-E-HOD-PR.
Funds by: European Union.
IP and nationally Coordinator: Mª Luz Couce Pico.
Timescale: 02/15/2013 15 -12 to 2015
Project Amount: 1.200.000 €
Researchers participating No. 11 Coordinators of the European Union and 19 Centers Nationwide.

3. We participate as partners in European registry and network for Intoxication type Metabolic Diseases

Project reference: E-IMD. D-69120
Funding: EAHC of the European Commission (Executive Agency for Health and Consumers)
Principal investigator in Spain: Angells García-Cazorla
Collaborating partner: María Luz Couce
Timescale: Enero 2012 – December 2014

4. Evaluación the effectiveness of a surveillance system for nosocomial infection rates in newborns with very low weight. PI13 / 00587. FIS -IS CIII: 2014-2016; IP: Alejandro Pérez Muñuzuri

5. a Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

Funding: BioMarin SA
Project Reference: MOR-005
Project reference: 2010-020199-45
Home: 1-6-2013- 1-11- 2014.
Principal Investigator: Mª Luz Couce

6. A multi-center, double-blind, placebo-controlled, randomized, two-arm phase IIa pilot trial Assessing the effect of Sapropterin on cognitive abilities in young Adults with PKU.

Funding: Merck KGaA.
Project reference EMR700773-004 Home: December 2013. Expected duration: 3 years
Principal Investigator: Mª Luz Couce Pico.
Start: 03/04/2014. Expected duration: 3 years

7. Estudio Phase IV open and one cohort of long-term neurocognitive outcomes in children aged 4-5 years phenylketonuria treated with sapropterin dihydrochloride for 7 years.

Funded by: Merck KGaA
EMR700773-002 reference project.
Home: 4-3-14. Duration until 04.03.2021
Principal Investigator: Mª Luz Couce

8. Kuvan Adult Pediatric European Registry (KAMPER)

Project Reference: EMR700773-001
Funded by: Merck Serono International SA
Call Type: European
Principal Investigator: Mª Luz Couce Pico
Timescale: 180 months (01-09-2010 to 09.01.2025)