Latest database descriptions

The primary objective of the RaDiCo-ECYSCO cohort is to understand the natural history and major long-term manifestations and outcomes of cystinosis in paediatric and adult cases.

Secondary Objectives are to:
• Evaluate the impact of disease and treatments on patients’ quality of life
• Evaluate the effect of treatment on the complications
• appraise the long-term safety of treatment and compliance

Information Technology Objectives are to:
• Develop and diffuse an electronic tool of data collection from various sources linked to a database integrating a system of management and follow-up of data-management allowing collection of data for cystinosis paediatric and adult patients.
• Include data generated by patients and, where relevant, their parents and or carers.
• Expand the cohort to cover a broader European population.
• Promote the use of the RaDiCo-ECYSCO eCRF for mutualisation and harmonisation of data for cystinosis paediatric and adult patients within the expert sites.

Improvement of standard care objectives are to:
• Develop comprehensive evidence based guidelines for treatments as well as for follow-up of patients who will switch from paediatric to adult status,
• Propose a system of audit against the guidelines ensuring overall care is of the highest standard as well as identifying areas of concern for actions.

Main objective
The principal objective of this study is to delineate the long term outcomes of the patients with ocular developmental defects, focusing on visual and neuro-developmental issues.

Secondary objectives
I) Identification of prognostic factors (such as ocular defects, unilateral or bilateral involvement, extra-ocular malformations) that would be associated with unfavourable visual and/or neurologic outcome. These data will be essential for the formulation of recommendations to enhance diagnosis and patient management.
II) Repercussions of the ocular developmental defects on patients and families quality of life.

Exploratory objectives
Searching for potential genotype/phenotype correlations to unravel
- the frequency of implication of each gene in these ocular developmental defects;
- the phenotypic spectrum associated with mutations in these genes;
- the identification of novel genes involved in these ocular developmental defects.
Given genotyping will not be mandatory to participate to the cohort; this objective will involve only the patients who accepted it.

Primary Objective
The main objective is to describe the phenotypic features of the paediatric and adult patients with IIP/PID, at diagnosis and during the follow-up. These data will be critical for the description of the natural history of the various forms of IIP/PID.

Secondary Objectives
The secondary objectives are to:
• Identify gene factors involved in disease initiation and progression,
• Investigate the extent to which environmental and co-morbidity factors may influence disease severity and outcome
• Identify and validate biomarkers for disease diagnosis and progression

Exploratory objectives
• Production of improved strategies for patient recruitment and enrolment into clinical trials
• Development of novel strategy for patient follow-up
• Development of novel diagnostic approaches
• Evaluation of effect on natural history of disease, and tolerance of therapy, in a large population in real life
• Development of novel therapeutic approaches

Information Technology Objectives
• Develop and diffuse an electronic tool of data collection from various sources linked to a database integrating a system of management and follow-up of data-management allowing collection of data for IIP/PID paediatric and adult patients.
• Include data generated by patients and, where relevant, their parents and/or carers.

The main objective is to identify in a large cohort of PCD patients, early predictors of severity in order to improve personalized patient management.