Enrollment Dup15q register: Universitätsklinikum Heidelberg

Welcome to the Dup15q Registry!

The goal of our registry is to collect and evaluate clinical and genetic information from Dup15q patients in a patient registry. We hope to better understand the relationship between genotype and phenotype and ultimately improve patient care.

After you consent to participate and send the genetic reports, you will receive access to the registry.

Patient Data & Consent

Patient's First Name: *

Patient's Last Name: *

Date of Birth: *

Gender: *

Nationality:

E-mail address *

Below you will find the consent form for the use of patient data for participation in the Dup15q Registry at the Institute of Human Genetics at Heidelberg University Hospital.

You have the right not to agree to this consent form. However, since this project relies on the collection and processing of personal and medical data, failure to sign would preclude participation in the project and any subsequent studies. Please read the study information and contact us if you have any questions at dup15q.register@med.uni-heidelberg.de.

Consent & Data Protection

Consent form: We have been informed in a detailed and understandable manner about the purpose and procedure of the study, as well as the associated risks (see study information). We have received and read the written information for participants. We have received satisfactory answers to all our questions. We voluntarily agree to participate in the study on behalf of our child or ward. We are aware that participation in the study is free of charge for us, that we will not receive any remuneration, and that we are not entitled to any compensation. We have been given sufficient time to make our decision. Data protection: We are aware that personal data will be processed as part of this study. Data processing is carried out in accordance with legal regulations and requires the following declaration of consent in accordance with Article 6 A. 1 (a) of the General Data Protection Regulation: We have been informed and voluntarily agree that data of the index patient collected in the study, in particular information relating health, genetic data, and biometric data, may be recorded and evaluated in pseudonymized form for the purposes described in the study information and, if necessary, shared in pseudonymized form with external universities/clinics. As part of this study, pseudonymized data might also be shared with third countries outside the EU and the European Economic Area for analysis purposes. These are countries for which the European Commission has determined an adequate legal level of data protection. No third parties will have access to the personal documents. The name of the index patient will not be mentioned when the study results are published. Personal data will be pseudonymized as soon as possible for the purposes of the research. The data will be stored indefinitely after the study has ended. We are aware that this consent can be revoked at any time, in writing or verbally, without giving any reason and without any inconvenience to us. This does not affect the legality of the data processing carried out until revocation. In this case, we can decide whether the collected data should be deleted or whether it can continue to be used for the purposes of the study. We are aware that subsequent deletion of anonymized data is no longer possible.

We agree to be contacted for future research purposes (e.g., therapy studies) via the email address we provided. *

The data we enter into the registry may be shared in pseudonymized form with external research institutions for other research purposes *

We would like to limit the use of our data for other/future research purposes as follows:

We agree to the sharing of the index patients’ medical reports and findings (e.g., molecular genetic diagnostics, EEG, MRI) for the registry. In this case, we allow that relevant data from these reports could be entered into the study database in pseudonymized form. *

Data & Consent of 1st Guardian:

Contact person information. Please now provide your personal information: *

1st Guardian: *

First Name

1st Guardian: *

Last Name

1st Guardian: *

Date of Birth:

Consent & Data Protection:

Consent form: I have been informed in a detailed and understandable manner about the purpose and procedure of the study, as well as the associated risks (see study information). I have received and read the written information for participants. I have received satisfactory answers to all my questions. I voluntarily agree to participate in the study. I am aware that participation in the study is free of charge for me, that I will not receive any remuneration, and that I am not entitled to any compensation. I have been given sufficient time to make my decision. Data protection: I am aware that personal data will be processed as part of this study. Data processing is carried out in accordance with legal regulations and requires the following declaration of consent in accordance with Article 6 A. 1 (a) of the General Data Protection Regulation: I have been informed and voluntarily agree that data is collected in the study, in particular information relating health, genetic data, and biometric data, may be recorded and evaluated in pseudonymized form for the purposes described in the study information and, if necessary, shared in pseudonymized form with external universities/clinics. As part of this study, pseudonymized data might also be shared with third countries outside the EU and the European Economic Area for analysis purposes. These are countries for which the European Commission has determined an adequate legal level of data protection. No third parties will have access to the personal documents. My name will not be mentioned when the study results are published. Personal data will be pseudonymized as soon as possible for the purposes of the research. The data will be stored indefinitely after the study has ended. I am aware that this consent can be revoked at any time, in writing or verbally, without giving any reason and without any inconvenience to me. This does not affect the legality of the data processing carried out until revocation. In this case, I can decide whether the collected data should be deleted or whether it can continue to be used for the purposes of the study. I am aware that subsequent deletion of anonymized data is no longer possible.

I hereby consent to my own participation in the registry.

The data I enter into the registry may be shared with external research institutions in pseudonymized form for other research purposes. *

I would like to restrict the use of my data for other/future research purposes as follows:

Data & Consent of 2nd Guardian:

2nd Guardian:

First Name

2nd Guardian:

Last Name

2nd Guardian:

Date of Birth

Data & Consent of 2nd Guardian:

Consent form: I have been informed in a detailed and understandable manner about the purpose and procedure of the study, as well as the associated risks (see study information). I have received and read the written information for participants. I have received satisfactory answers to all my questions. I voluntarily agree to participate in the study. I am aware that participation in the study is free of charge for me, that I will not receive any remuneration, and that I am not entitled to any compensation. I have been given sufficient time to make my decision. Data protection: I am aware that personal data will be processed as part of this study. Data processing is carried out in accordance with legal regulations and requires the following declaration of consent in accordance with Article 6 A. 1 (a) of the General Data Protection Regulation: I have been informed and voluntarily agree that data iscollected in the study, in particular information relating health, genetic data, and biometric data, may be recorded and evaluated in pseudonymized form for the purposes described in the study information and, if necessary, shared in pseudonymized form with external universities/clinics. As part of this study, pseudonymized data might also be shared with third countries outside the EU and the European Economic Area for analysis purposes. These are countries for which the European Commission has determined an adequate legal level of data protection. No third parties will have access to the personal documents. My name will not be mentioned when the study results are published. Personal data will be pseudonymized as soon as possible for the purposes of the research. The data will be stored indefinitely after the study has ended. I am aware that this consent can be revoked at any time, in writing or verbally, without giving any reason and without any inconvenience to me. This does not affect the legality of the data processing carried out until revocation. In this case, I can decide whether the collected data should be deleted or whether it can continue to be used for the purposes of the study. I am aware that subsequent deletion of anonymized data is no longer possible.

I hereby consent to my own participation in the registry.

The data I have entered into the registry may be shared with external research institutions in pseudonymized form for other research purposes.

I would like to restrict the use of my data for other/future research purposes as follows:

I hereby confirm the accuracy of my information. *

File and Image Sharing of Medical Results

In the first step, we would like to ask you to send us a series of medical results/findings by e-mail. Please do not redact these documents. The documents will be stored separately. The depersonalized data will be reviewed by our staff and transferred to the study database. This ensures that the database contains only depersonalized (pseudonymized) data.

Please use the following checklist to select relevant medical reports for the registry and e-mail them to the registry team. If there are multiple reports, please send ALL reports.

1. ALL available genetic reports of the Dup15q patient (e.g., karyotype, CGH array, FISH, methylation testing, whole genome sequencing (WGS), exome sequencing)
2. Any genetic findings from the parents
3. Standardized developmental testing (e.g., Bayley, ET6-6, Vineland, Denver, Munich Functional)
4. IQ test
5. Autism diagnostics (e.g., ADOS, ADI-R, 3di, DISCO, FSK)
6. Growth charts (height, weight, head circumference)
7. Head MRI scan(s)
8. EEG scan(s)
9. Sleep study(s)
10. Endocrinological examination(s) (in case of early/delayed puberty)
11. Medication plan (current and previous)
12. Emergency epilepsy plan (in order of priority): Rescue medications given to interrupt an ongoing seizure or series of seizures
13. Other important findings

Important Documents

Consent Form

Consent Dup15q registry Guardians
- pdf
- 189,20 KB
Download
Consent Dup15q registry Guardians own participation
- pdf
- 187,58 KB
Download
Consent Dup15q registry Adults
- pdf
- 188,58 KB
Download

Study Information

Information leaflet Dup15q registry Guardians
- pdf
- 176,82 KB
Download

Frequently Asked Questions

FAQ
- pdf
- 202,32 KB
Download

Forschung

Welcome to the Dup15q Registry!

Patient Data & Consent

Data & Consent of 1st Guardian:

Data & Consent of 2nd Guardian:

File and Image Sharing of Medical Results

Important Documents

Consent Form

Consent Dup15q registry Guardians

Consent Dup15q registry Guardians own participation

Consent Dup15q registry Adults

Study Information

Information leaflet Dup15q registry Guardians

Frequently Asked Questions

FAQ