Study identification

EU PAS number

EUPAS1000000746

Study ID

1000000746

Official title and acronym

Retrospective and prospective observational study on the systemic outcomes of lysosomal storage diseases with skeletal involvement in their natural history or during standard of care treatment

DARWIN EU® study

No

Study countries

Italy
Netherlands
Spain
United Kingdom

Study description

This is a multicenter, observational study with both retrospective and prospective components, designed to collect and analyze clinical data from patients affected by LSDs with skeletal and/or neurological involvement. The aim of the study is to collect and analyze data from these patients focusing both on natural history and outcomes of standard of care treatments.
At least 100 participants from different international centers will be enrolled. No additional procedures, laboratory tests, or questionnaires will be performed for the study; only data already collected as part of standard clinical management will be recorded.
Data will be collected from up to 9 visits per patient (maximum 5 retrospective visits and 4 prospective visits).

Study status

Planned
Research institutions and networks

Institutions

Fondazione IRCCS San Gerardo dei Tintori (Monza, IT)
Azienda Ospedaliera Universitaria Federico II (Napoli, IT)
Royal Manchester Children's Hospital (Manchester, UK)
Wilhelmina Kinderziekenhuis (Utrecht, NLD)
Vall d'Hebron Barcelona Hospital Campus (Barcelona, ES)

Contact details

Maria Ester Bernardo 0000-0002-0099-8021

Primary lead investigator
ORCID number:
0000-0002-0099-8021

Study timelines

Date when funding contract was signed

Planned:

Study start date

Planned:

Date of final study report

Planned:
Sources of funding
Non-for-profit organisation (e.g. charity)

More details on funding

Fondazione Telethon ETS
Regulatory

Was the study required by a regulatory body?

No

Is the study required by a Risk Management Plan (RMP)?

Not applicable