Development of an International Database on Rare Bleeding Disorders (RBDD)

INFORMATION BOOKLET FOR PARTICIPANTS IN THE STUDY

What is the aim of this study?
Rare bleeding disorders (fibrinogen deficiency, prothrombin deficiency and factor V, V+VIII, VII, X, XI and XIII deficiencies) are rare hemorrhagic syndromes with prevalence in the general population varying between 1 in 500,000 and 1 in 1,000,000. Families with a coagulation factor deficiency can have different clinical expression. Patients with a severe deficiency of a coagulation factor generally have hemorrhagic symptoms as severe post-operative or post-dental extraction bleeding, ecchymosis, epistaxis, haematoma and hemarthrosis or umbilical cord bleeding and in more severe cases central nervous system bleeding and gastrointestinal bleeding. Patients' families could have a milder deficiency and could be completely asymptomatic. Up to date diagnosis is based on laboratory tests that measure the coagulation factor activity in the blood. Since these disorders are rare and heterogeneous and their clinical and biological characteristics are not perfectly known, an International Database on Rare Bleeding Disorders has been carried out (RBDD) to collect all obtained data from patients participating in the study and from their families.
The aim of the study you are asked to participate in is to develop this database (since up to date such a database doesn't exist). It will make possible to use clinical and treatment data obtained from clinical practice.
With information obtained from RBDD it will be possible to improve clinical diagnosis and rare bleeding disorders treatment and to provide the best advice for prenatal diagnosis.
At this aim we are going to:
- take a blood sample to measure coagulation factor deficiency and to extract DNA. DNA extraction will be useful for genetic research that will be carry out only in case of suspected congenital deficiency (i.e. transmitted in the family). Research of mutations will be performed according to provided information about relationship. If information is not right Centre____________________________________ and its staff will not be legally responsible for inaccurate diagnosis. A part of blood sample will be used for above-said dosages; another part will be frozen and kept in anonymous form with clinical and laboratory data, plasma samples and extracted DNA.
- put in RBDD all laboratory data and all information provided from patients during the interview
- use for statistics only clinical and laboratory data and we are not going to use sensible medical data which could identify the patient (name, surname, address, telephone number, taxpayer's code number, religion, etc.)

Could there be any risk or discomfort for participants?
The only discomfort that could be for participants is due to a normal taking of blood sample. Taking blood could cause slight pain due to the needle and could provoke little hemorrhages or ecchymosis.

What does participation in the study involve?
If you agree to participate in this study you will have to provide some information about your clinic history and your health problems. At the beginning of the study blood sample will be taken. Further sample of blood could be required if first sample is not enough or unsuitable or corrupted. Some others relatives of you could be asked to participate in the study.

Can I withdraw from the study whenever I want?
Yes. Your participation in the study is completely voluntary so that you can withdraw from it at any time asking for the destruction of your biological samples. If you decide to withdraw your consent or your participation in the study there WILL NOT BE ANY NEGATIVE CONSEQUENCES on your treatment or on any other medical procedure concerning you.

Will you inform me about every possible finding?
If, as a result of this study, it will be identify the genetic defect responsible for your bleeding disorder, and if it will be possible to perform genetic advice and prenatal diagnosis and if important new information emerges during your participation, we could trace back to your identity thank to your numeric code and you will be informed about analysis outcomes. Analysis outcomes will be given in writing absolutely only to undersigned. Participant's analysis outcomes will be kept with the ones of his family in diagnosis centre on magnetic storage medium with the aim to conserve them for future

How my samples will be kept?

All your samples (plasma and DNA) will be kept on the responsibility of Dr._______________________

from treatment centre _________________________ _______________________________________

address ________________________________ City _________________Country________________

during all the study.

 

 

 

Will obtained information be confidential?
Yes. We will refer to you and to your samples only by an identification code assigned at the beginning of the study. All information about you will be confidential, on the responsibility of Prof. Flora Peyvandi at Hemophilia and Thrombosis Centre, Via Pace 9, 20122 Milan, Italy.

Is this consent valid only for this study?
Yes. You can decide to participate in others studies if obtained results will be useful for further therapeutic and diagnostic uses. In this case you can authorize this centre or others academic centres to use your biological samples. In any case other centres will not receive any of your sensible data and they will have only anonymous codes.

Will you pay me for my participation?
No, your decision to take part in this study is absolutely free.

Who can I contact if I need further information?

For further information about clinical and treatment you can contact Dr.______________________

at Treatment Centre________________________Address________________________________

City, Country _____________________________ telephone___________________________

For any questions about storage and use of data and about their insertion in RBDD, you can contact Prof. Peyvandi at Hemophilia and Thrombosis Centre- Via Pace 9, 20122 Milan, Italy- tel. 02-55035414 or 02-55034460

 

 

 

How can I do if I'd have to complain for the study management?
If you need you could complain to complaint department of clinical structures that participate in the study. Your participation in the study will not restrict your complaint right in any way.

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Development of an International Database on Rare Bleeding Disorders (RBDD)
Information consent pursuant to Law 675 of 31.12.1996 on the protection of personal data.

I, the undersigned ___________________________________ born in ___________________

On ___________ resident in ___________________________street ____________________

Tel.______________________________ Forwarding clinician or ward ___________________

 

 

DECLARE that I received exhaustive explanations regarding the request to take part in the study referred to above and that I understood all explanations. Consequently, I freely decide to take part in the study and I give my consent to "Development of an International Database on Rare Bleeding Disorders (RBDD)" and I give my consent to:
blood taking to measure deficient plasmatic factor using a standardized method reported in international literature
molecular characterisation of genetic defect through DNA analysis using standardized protocol reported in international literature
conservation of biological samples conforming to study protocol,
the use of my clinical and laboratory data and to their insertion in RBDD for the purpose of scientific research (included their publication), in a strictly anonymous form and with the assurance that my biological samples will be used exclusively for the purpose of this study.
agree since now to others studies carried out at Luigi Villa Foundation, that has an agreement with IRCCS Foundation, Ospedale Maggiore Policlinico di Milano, Mangiagalli e Regina Elena, if outcomes are going to be interesting for further therapeutic and diagnostic uses.
agree since now to others studies carried out at others academic or research centres (in any case other centres will not receive any of my sensible data and they will have only my anonymous code), if outcomes are going to be interesting for further therapeutic and diagnostic uses.
I moreover DECLEAR that I have been informed that:
I can withdraw from this study at any time asking for the destruction of my biological samples.
I, the undersigned _____________________________ declare that on this day I have been informed about laws in force regarding privacy of personal data (especially of sensible medical data) (art n. 13 concerned person's rights, n. 22 sensible data, n.23 medical data) and that I understand that it is obligatory providing required data and acquiring data emerging during the study.
Date ...........................................	Signature ...........................................