© fotolia.com | Dmitry Lobanov

The Register collects samples from single patients, so-called “trios” (patient plus birth parents) and from single families with an accumulation of congenital heart disease. There are two ways of sample collection:

• Type A for collecting samples from patients who are already registered in the Register, as well as for collecting samples from patients’ family members
  Patients or, in the case of minors, patients’ legal guardians are contacted and receive an informed consent form. Individuals who have consented to participate receive an individual-related sample collection set and an envelope for sending the samples to the laboratory. Saliva samples can be taken by the participants themselves.
• Type B for collecting samples from patients (and relatives, if applicable) who do not yet participate in the register
  Cooperating clinics and pediatric cardiologists in private practice receive a “blanco sample set” (for taking both blood and saliva samples) from the National Register. These include barcoded sample containers with sample information sheets and informed consent forms, which are linked by an interim code. If a test person consents samples are taken during a medically indicated examination. The signed informed consent forms and the medical data (medical reports, findings, surgical reports) are sent to the National Register. Samples and informed consent forms can be reassigned by the Register administration at a later time.

Using postpaid boxes (corresponding to standard P650), the treating physician, or the hospital, sends EDTA monovettes without cooling measures by mail to the sample laboratory. Sample sets are sent to the laboratory without cooling by the hospital or cardiologist (type B) or directly by the patient (type A), using standard mail.

© Wolfram Scheible für Nationales Register

Specific sample sets are compiled for the collection of plasma, serum and RNA and provided to the participating clinics. The processing steps meet current standards. For this purpose, binding standard operating procedures (SOPs) and workflows are defined and adjusted where necessary. The samples or aliquots of the samples are stored at minus 80 degrees Celsius by the participating clinics.

© Wolfram Scheible für Nationales Register

In many cases, cardiac surgery yields residual tissue that has to be removed for the surgical procedure. Usually this residual material is disposed of. Residual material can also result from evaluations of catheter biopsies. Such samples are asservated in order to perform studies on subjects such as cardiac gene expression. This requires written informed consent by patients of legal age or, in the case of minors, by the legal guardians.

Once taken, the samples are either quick-freezed in liquid nitrogen and then stored in either cryotanks (N2 gas phase, minus 160 degrees Celsius) or minus 80 degrees Celsius freezers. Alternatively, they are fixated in formalin and embedded in paraffin.

In the case of cryo storage, tanks, freezers or trunks have to be equipped with monitoring systems (alarms, temperature control and temperature recording). The National Register Study Management supports clinics with setting up the infrastructure and with establishing the required cold chain (transport from the surgery to the storage tank, sorting and eliminating of samples). The National Register Study Management reviews the adherence to SOPs and workflows within the scope of regular on-site visits.

Participating clinics are provided with specific sample sets for the collection of tissue samples by the National Register Study Management. These include the required informed consent forms, as well as barcoded cryo vessels and sample information sheets. All participating institutions are provided with online access to the BDAT-DB.