PRINTO past project details

Genomics and Pediatric Rheumatic Diseases survey

The present survey is designed to investigate if the PRINTO centres have families with paediatric rheumatic diseases where more cases of the same disease (e.g. JIA or JSLE or JDM etc) are present among brothers and/or sisters (affected sib pairs).

With this survey, approved by the PRINTO Advisory Council, we would like to know:

• if you are interested in participating in a study whose primary objective is to investigate the genetic basis of the Juvenile Idiopathic Arthritis (JIA) through the analysis of familial cases (affected sib pairs) of JIA;

• if you have familial cases (affected sib pairs) of other paediatric rheumatic diseases (PRD) like juvenile systemic lupus erythematosus, juvenile dermatomyositis, etc.

PART I: JIA affected sib pairs.
The project, entitled “Genomics and Juvenile Idiopathic Arthritis”, is a joint collaboration between PRINTO and Dr David Glass of the Children’s Hospital in Cincinnati USA, and is sponsored by the National Health Institute (NIH). The role of PRINTO is:

• To identify families in which 2 or more children are affected by JIA (affected sib pairs).

• To obtain approval from the local ethic committee of each centre for the study.

• To collect DNA samples and clinical information from families of affected sib pairs.

Centres willing to participate, that will have obtained the related ethic committees approval, sent DNA and clinical information to PRINTO , will receive a reimbursement up to 750 € per family enrolled in the study.

PART II: Pediatric Rheumatic Diseases affected sib pairs.
As we would like to carry out other genetic studies in the future, we are interested to know if you have familial cases of other rheumatic diseases (e.g. Systemic Lupus Erythematosus and Juvenile Dermatomyositis, etc). If a significant number of patients can be identified, we can hypothesize to perform new studies which will allow us to investigate the genetic basis of such diseases. We would like to specify that this is only a survey in order to obtain information and we do not need to collect any DNA sample for the moment.

If you are interested to complete the related survey you can contact the PRINTO office. The complete survey is available, for PRINTO members only, in the reserved Member area on the left.

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