In our study, we want to examine people with congenital metabolic diseases. These are so-called glycogenoses (glycogen storage diseases, GSD), especially glycogenoses of the liver. We will set up a so-called patient register, i.e. a collection of patient data on the course of the disease, the treatment, the changes in laboratory values that can be measured in the blood and urine, the results of technical examinations and the results of development tests.
Aim of the study
The aims of our study using this patient register are as follows:
- Better understanding of the course of the disease
- Frequency of certain organ problems, e.g. liver (adenomas), bones (osteoporosis), kidneys (impaired kidney function, increased protein excretion), depending on metabolic control
- Special problems of growth and development, as well as problems of the hormonal system (endocrine problems).
- Special nutritional problems and deficiencies
- Swiss comparison of the diagnosis and care of patients
- Impact of the disease on the quality of life of patients and their families
Who can take part?
Congenital metabolic disease, a so-called glycogen storage disease (glycogenosis)
Procedure
As part of the study, we will collect the data on disease progression and treatment mentioned in section 1 above (including results of laboratory tests, technical examinations and developmental tests). We will also ask you to complete a short, internationally standardized questionnaire on your health and well-being every year. This data collection takes place during the regularly scheduled consultation appointments (or hospitalization), no additional examinations or laboratory tests are performed for the patient registry other than the questionnaire survey, which are not part of the normal follow-up, and no additional medical appointments are made for the patient registry.
The data is collected in a central patient register. The study is conducted in accordance with applicable Swiss laws and internationally recognized principles.
Duration of the study for participants: The patient registry will continue indefinitely, i.e. if you decide to participate in the registry, your data will be recorded in the patient registry until further notice, unless you withdraw your consent to participate in the registry (you can do this at any time without giving reasons or disadvantages for you). The sections "Confidentiality of data" and the appendix "Information on data processing and data protection" provide information on the confidentiality of data and the storage of your data.
Compensation
Original study name
Swiss registry for patients with hepatic glycogen storage diseases
BASEC number
2021-00013 (previously: KEK-ZH no. 2013-0387)
Sponsors
You will not receive any compensation for participating in this study.