Institute of Hereditary Metabolic Diseases
Projects
Resaerch Goals and Projects
Our research focuses on the immunomodulation of congenital lysosomal storage disorders. We investigate the central inflammatory mechanisms and develop pharmacological therapies from them. Due to the rarity and heterogeneity of the diseases, we focus on personalized, patient-centered treatments in the sense of re-purpoisng approved drugs.
In addition, we lay the foundation for methods for evidence-based benefit-risk assessment in therapies and accurate diagnostics in the early stages.
Our current work focuses on:
Inflammation in MPS Cytopathology:
We are working on a comprehensive overview of systemic inflammation and neuroinflammation and developing hypotheses for potential therapeutic approaches. This project lays the groundwork for an evidence-based reorientation in the treatment of MPS patients.
Individual Assessment of Relevant Benefits and Therapy Risks:
This project uses an innovative methodology to develop a benefit-risk model to serve MPS experts as a decision-making aid regarding Off-Label Use in MPS patients, providing an evidence-based, profound basis. This tool serves as a foundation for individual treatment trials with immunomodulatory drugs and as an anchored instrument for transparency and traceability in Off-Label Use.
Monitoring through Biomarkers:
Recent scientific works have shown that inflammatory and pro-inflammatory proteins are altered in MPS patients and there is a correlation between inflammation/apoptosis and disease severity. We also focus on neuroinflammatory markers, known from Multiple Sclerosis research. Consequently, we expect potential benefits for better assessment of disease progression or response to therapies. We collaborate closely with the University of Graz and the University of Salzburg.
Patient-centered, Personalized Therapies with Immunomodulators:
Our goal is to evaluate potential immunomodulatory drugs that target key proteins in MPS inflammation on various levels. Through the development of a benefit-risk model, individual experimental treatments with immunomodulators can be safely conducted on an international scale. This approach, initially developed for MPS, has been iteratively refined and is accessible for other therapy options and diseases.
Parental Perception of Different Therapy Options:
Innovative treatment approaches, like gene therapies or individual treatment trials, have gained recognition in the field of lysosomal storage diseases through recent works. It remains unclear how the perception among patients and parents looks. Understanding this is crucial to making new, promising therapies accessible in a patient-centered manner and addressing parental concerns directly. We explore parental perception of innovative compared to already approved therapies, laying the groundwork for targeted outreach campaigns and awareness building in the MPS field and beyond.
Complication Rates in Anesthesia:
Our goal is to analyze and evaluate the risks and safety of various anesthesia procedures in patients with MPS to reduce the complication rate through the choice of accurate methods and education. This retrospective, descriptive study is conducted in cooperation with the renowned UCSF Benioff Children's Hospital in Oakland, USA.
Development of a Suspicion Index Tool:
Our current research projects in the area of Niemann Pick Type A, A/B, and B (ASMD) focus on facilitating diagnosis. To enable early and accurate initial diagnosis of this heterogeneous, lysosomal storage disease, we are developing a tool based on broad evidence and with international study centers to ease clinical routine.
Another focus is analyzing gastrointestinal symptoms in Fabry Disease to decipher the causes of this manifestation and develop targeted therapy options. Our overarching goal is to translate basic research into clinical practice, significantly contributing to improving the quality of life for patients with lysosomal storage diseases.