Our interest here is in the lesser known and understood complications of diabetes. The BODIA study is examining the impact of diabetes on bone health to better understand the increased fracture rates in people with diabetes. This PhD project is funded by a LIT Call from the JKU.

(PI Rodrigo Montero-Lopez)

In the treatment of diabetes mellitus (diabetes, an autoimmune disease), avoiding long-term complications is an important treatment goal. In order to identify unknown risk factors, network research on large patient cohorts in international registry studies is absolutely necessary. We are part of the DPV register, the largest project in the D-A-CH region which, in addition to collective scientific data analysis, also enables transparent quality management through annual comparative analyzes of the quality of care of all participating centers.

(PI Thomas Hörtenhuber)

Cystic fibrosis (CF, cystic fibrosis) can now be treated significantly better with the so-called triple therapy (Kaftrio). The new therapies for rare diseases such as CF sometimes also change their complications. In a PhD project we are analyzing the possible influence of Kaftrio therapy on the development of CF-related diabetes using continuous glucose measurements.

(PI Thomas Hörtenhuber)

Therapy with recombinant growth hormone is one of the established interventions in endocrinology. Prof Högler is leading an international multicenter study (centers in England, Scotland and Austria) that deals with the reversibility of idiopathic growth hormone deficiency. Growth happens in the growth plates of the bones and has many influencing factors independent of the growth hormone that we are tracking down. This study examines children with growth hormone deficiency (GHD) of unknown cause (idiopathic). This type of GHD is often reversible, meaning it will outgrow, but the timing of when this happens and when and whether hormone replacement can be stopped is unclear. This study will find the answer to this and also analyse health economic aspects.

(PI Wolfgang Högler)

We have a lot of experience with international multicenter studies that test the safety and effectiveness of new growth-promoting drugs. We are currently offering our patients participation in REAL studies in which the safety and effectiveness of a long-acting preparation is tested. To date, growth hormone has been injected daily, so a weekly injection would of course be much more patient-friendly.

(PI Thomas Hörtenhuber)

Achondroplasia is a rare multisystem disease that, among other things, leads to massive growth restriction. This genetic disease, caused by a mutation in the FGFR3 gene, was untreatable for a long time. At the University Clinic for Pediatrics and Adolescent Medicine, children are taking part in therapy studies that are investigating a long-acting preparation (TransConCNP) that counteracts the FGF3-related inhibition of growth plates. Initial studies prove its effectiveness and safety. There can be hope for further long-term benefits of this therapy in other areas, such as spinal canal stenosis.

(PI Wolfgang Högler)

Everyone is talking about how we as humans should consume more and more vitamin D. We are researching how much our bones really need for normal mineralisation. In this collaboration with the University Clinic for Orthopaedics at the JKU, the Ludwig Boltzmann Institute in Vienna and the Helmholz Institute in Munich, we use bone tissue and blood samples obtained during routine operations to examine them for signs of hypomineralisation. We provide evidence in vivo at which threshold in vitamin D status bone health begins to suffer.

In the multidisciplinary osteological outpatient clinic for rare bone diseases, we offer our patients the opportunity to participate in international studies. Rare diseases can only be better understood through international network research, which is why we participate in various registry studies, e.g. for achondroplasia, hypophosphatasia, rare growth disorders and hormonal diseases. The international registry studies make it possible to collectively build up knowledge and expertise on rare diseases.

(PI Wolfgang Högler)

Brittle bone disease (osteogenesis imperfecta) is a hereditary disease with increased bone fragility. At the multidisciplinary osteological outpatient clinic at the Department of Paediatrics and Adolescent Medicine, we can offer our patients participation in this multicenter study that tests the effectiveness and safety of romosozumab, with the primary goal of preventing fractures. For the first time, an anabolic drug is being tested that has already been approved for the treatment of osteoporosis in adults.

(PI Wolfgang Högler)

This is a global project on the rare systemic disease and bone mineralisation disorder hypophosphatasia. Prof Högler leads this global project and leads an international consortium that investigates the disease value of variants in the ALPL gene. We maintain a global, public database https://alplmutationdatabase.jku.at/, opens an external URL in a new window, that contains all variants, genotypes and phenotypes. The project is supported by the company Alexion.

(PI Wolfgang Högler)

Our research team is part of an international consortium that, supported by an ESPE Collaborative Research Grant, with the aim to improve early diagnosis and treatment of boys with congenital hypogonadotropic hypogonadism (underdeveloped genitalia due to a central dysfunction). In affected boys, a lack of testosterone often leads to undescended testes at birth and later on to results in insufficient or absent pubertal development, which can result in infertility. As part of the project, the already established I-DSD Registry has now been expanded to include the I-CHH Registry, enabling the collection of international data and, therefore, knowledge. We are currently conducting a global survey on international diagnosis and treatment strategies, with the goal of harmonizing treatment guidelines in the future.

(PI Dr. Elisabeth Laurer)