Title of the register

CGPP Database

Name of Principal Investigator
Title MD, PhD
First name Jorge
Last name Sequeiros
Address of institution where award is held
Institution CGPP and UnIGENe
Street Address Rua do Campo Alegre, 823
City Porto
Postcode 4150-180
Country
  • Portugal
  • Website

    www.ibmc.up.pt

    Contact email

    jorge.sequeiros@ibmc.up.pt

    1. Conditions included, or expected to be included, in the disease register
  • Alzheimer’s disease and other dementias
  • Motor neurone diseases
  • Parkinson’s disease
  • Huntington’s disease
  • Spinocerebellar ataxia (SCA)
  • Neurodegenerative disease in general
  • 2a. Stated aim of the cohort

    Molecular diagnosis and genetic counseling of neurodegenerative disorders in a national reference center and to foster research

    2b. Features distinguishing this register from other disease registers

    Excellent clinical information from expert neurologists, connected to pedigree data and long-lasting knowledge on Portuguese families with neurodegenerative disorders. (2) Being a national reference diagnostic centre for these disorders, situated in a research institute.

    3a. i) Number of publications that involve use of register to date

    45

    3a. ii) Up to three examples of studies to date (PI, Institution, Title of Study)
    1. Name of PI PI: Isabel Alonso, IBMC, Mutational spectrum and improvement in laboratory techniques applied to molecular diagnosis of neurological disorders

    PI: Isabel Silveira, IBMC, Clinical Implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction

    PI: Paula Coutinho, IBMC, Survey of hereditary ataxias and spastic paraplegias in Portugal

    4a. Study criteria: age range of participants
    Age in years from: Any age
    4b. Study criteria: inclusion criteria

    Suffering or having a family history of a neurodegenerative disorder with or without a molecular genetics diagnosis.

    4c. Study criteria: exclusion criteria

    None

    5. Size of the register (i.e. number of patients enrolled)
  • More than 10,000 clinical cases
  • 6a. Measures used to characterise participants

    Personal, clinical and family data.

    6b. Are there defined primary and secondary endpoints (e.g. defined health parameters)
  • No
  • 7a. i) Is the register of fixed duration

    1

    7a. ii) Data collection start date

    17-12-1997

    7b. Stage of data collection/analysis for the register
  • Data collection ongoing
  • 11. Limit on the number of studies that can be based on this set of patients
    12a. Data stored in a database
    Yes/No % available
    Y 100
    N
    Y Access database 100
    Y 100
    12b. Data held as individual records
    Yes/No % available
    Y 100
    N
    Y 100
    Y
    13a. Are data available to other groups

    2

    13b. Access policy/mechanisms for access if data are available to other groups
  • Apply to PI or co-ordinator at resource
  • 14. Data sharing policy specified as a condition of use
  • No policy exists
  • 15a. Are tissues/samples/DNA available to other groups

    2

    15b. i) Description of available tissues/samples/DNA
  • Living donors: DNA
  • Post-mortem donors: brain
  • 15b. ii) Form available tissues/samples/DNA are supplied in
  • Secondary samples: plasma
  • Secondary samples: DNA
  • Secondary samples: cell lines derived from primary samples
  • 15b iii) Is the access policy/mechanism for obtaining samples the same as that for obtaining data

    1

    16a. Is information on biological characteristics available to other group
    16b. Is the access policy/mechanism for obtaining details of the characteristics the same as that for obtaining other data

    2

    Types: N/A
    Member States: N/A
    Diseases: N/A
    Years: N/A
    Database Categories: N/A
    Database Tags: N/A

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