1. What is the MSD Patient Registry?
MSD is an extremely rare inherited metabolic disorder. There are only 40 patients known worldwide. Standardised scientific studies on MSD are difficult to perform because of the small number of patients and their scattered distribution throughout the world. As a consequence, knowledge about MSD, in particular its different forms of presentation and optimal therapeutic approaches is far from complete.
The MSD Patient Registry is designed to increase current knowledge on MSD. Clinical data from patients with MSD will be collected, stored, analysed and made available to those treating MSD and for scientific projects. The registry will also be used to help identify MSD patients which may be suitable for future clinical studies on MSD.
The MSD Patient Registry is run by the University Medical Center, Children’s Hospital, Göttingen, Germany and supported Multiple Sulfatase Deficiency Action Foundation (MSDAF).
2. How will data be collected and stored in the MSD patient registry?
If you chose to participate in the MSD Patient Registry we will ask you to provide us with personal clinical information about your child. After initial registration we will create an account for you and send out questionnaires containing questions about your child. We would kindly ask you to fill in the questionnaires as completely as possible, if necessary with the help of your local doctor.
After sending back the filled in questionnaires the data will be de-identified. That means that the data will be given a so called personal identification code (encryption) and name and other personal data will no longer be visible. Only doctors working for the MSD Patient Registry will still be able to link the data to your child. Data will only be entered and stored in the database in the de-identified form.
Once a year you will be asked to update your data with an update questionnaire. For this reason you will be contacted by the MSD Patient Registry. It is also possible to update your data by yourself should there be any change in the health status or medication of your child or if you receive any new results or findings. Upon request we will send out update forms to you. If the registry is unable to contact you, your account will become inactive after 3 attempts.
3. What is the anticipated benefit of a participation?
Participation in the MSD registry is not likely to have any direct medical or personal benefit for your child. Results from the MSD Patient Registry will help to provide a better understanding, and enable quicker detection and improved treatment of the disease your child is suffering from. It is, however, less likely that participation will result in any immediate consequences for the treatment of your child.
However, it is likely that as a result of the data in the MSD Patient Registry that your child will be identified as a suitable candidate for a clinical study. In such a case, any contact with the institution running the study will be established through the MSD Patient Registry.
These clinical studies will not be run by the MSD Patient Registry itself. That is why the institution performing the study will require its own separate information and informed consent from you. It could well happen that after an initial assessment your child does not meet the study requirements and cannot take part in the study.
Although one of the main goals of the registry is to identify patients for participation in clinical studies, such participation cannot be demanded by the patient.
4. I don’t want to be involved in a clinical trial. Should I still register?
Absolutely. Even if you do not want to participate in a clinical trial your information might improve current understanding of MSD and help to establish guidelines for diagnosing and treating the disorder.
5. Is the data confidentiality protected?
Data in the MSD Patient Registry will be analysed in a de-identified form which means without your child’s name and stored in accordance with legal requirements for data protection.
The information will be saved on secured computers and servers and protected by encryption and passwords. Only doctors working for the MSD Patient Registry will have access to the identification codes and will be able to identify individual patients.
Details concerning consent, data acquisition, use of data and the right to withdrawal are outlined in the consent form. Please see here.
Selected scientists will be given permission to see de-identified data only. Before this happens they will be required to present their research project to the MSD Patient Registry. A committee formed of scientists and doctors with experience in MSD as well as representatives of the MSD patient organisations will decide if de-identified data from the MSD registry will be provided to the scientists.
If the registry identifies a patient to be eligible for participation in a clinical study this patient will be contacted by the MSD Patient Registry. The scientist who is recruiting patients for a study will not be able to contact the patient directly. The MSD Patient Registry will provide the patient’s family with information on the study as well as contact data of the scientist if so desired. De- identified information in the MSD Patient Registry may also be shared with other medical databases, e.g. Global Rare Disease Patient Registry Data Repository (GRDR) for further scientific analysis. It is, however, not possible to identify individual patients from the de-identified data and therefore patients cannot be contacted by representatives of other data bases.
6. Are there any risks for our child or us when participating in the MSD Patient Registry?
The registry may ask you some personal questions which you may feel uncomfortable answering. You are not obliged to answer these questions. You may simply leave them unanswered and still participate in the MSD Patient Registry.
Another possible but unlikely risk is a potential breach in the computer system resulting in unauthorised access to data on computers and servers. In the event of such a breach in the registry’s computer system, you will be notified by the MSD Patient Registry.
7. Can we withdraw our consent for the participation in the MSD Patient Registry?
Yes, you can withdraw your participation in the MSD Patient Registry at any time and without providing any reason. Your decision about whether or not to continue your participation in this registry will not affect your child’s healthcare, medical treatment or insurance benefits.
Should you chose to withdraw you can decide if you want your child’s data removed from the registry database. Details on the implication of your withdrawal on the use of your data are outlined in the consent form attached.
De-identified data that have already been submitted to other registries or scientists cannot be accessed and deleted by the MSD Patient Registry.
8. Will I be charged for participating in the MSD Patient Registry?
No, participation in the MSD Patient Registry is free of charge for you and your child.
9. Scientific and commercial use of scientific results
Results that derive from data in the MSD Patient Registry will eventually be published in scientific journals and presented at conferences and meetings. Such publications will not contain any personal data, only de-identified data. Because MSD is an extremely rare disease there remains a minimal risk, despite all measures taken to de-identify data, that your child can be identified by others via the published information (e.g. combination of symptoms, unique symptoms). Unfortunately, this cannot be completely prevented.
It is possible that scientific results will be used commercially and patented. You have no claim on any commercial benefit.
10. Who do I contact for further questions?
You can talk to the doctors involved in the MSD Patient Registry at any time if you have any questions regarding the MSD Patient Registry. Questions concerning the rights and obligations of your child as a participant in the MSD Patient Registry will also be answered. Please don’t hesitate to ask any questions that are important to you and take your time deciding if you want to participate.
You may also contact the MSD Patient Registry directly for any questions concerning the registry,
e.g. the registration process, and also for suggestions and complaints. The contact data is as follows:
Prof. Dr. Jutta Gärtner, Dr. Lars Schlotawa
Klinik für Kinder- und Jugendmedizin Universitätsmedizin Göttingen Robert-Koch-Str. 40
37075 Göttingen Germany
Comment on terms used in the text
For reasons of readability we did not specify terms used for female and male persons in the text. All terms used in the text refer to either gender.