Therapy clinic
The main goal of the Therapy Clinic is to bring therapies to the patient. Fast, safe, and accessible. We realize efficient development, testing, and application of (novel) therapies for rare genetic diseases focusing on nutrition (diet, supplements), (repurposed) drugs, organ transplantation, stem cell and RNA/gene therapies.
To identify the best possible treatment, we have established a ‘Pipeline for Rare Diseases’. This pipeline optimizes the selection of (targeted) therapy while generating evidence on treatment effectiveness and safety. Ensuring that effective therapies are accessible to patients is a top priority.
The Therapy Clinic is divided into a preclinical section and a clinical section.
Interactive Toolbox
Use the Emma CPM interactive toolbox for getting started to test effectiveness of a therapy for a rare disorder.
Do you want personal advice? Complete the application form below and send it to emmacpmtherapie[at]amsterdamumc.nl
The CRISPR Q&A Clinic offers a unique opportunity to consult with a clinical geneticist and a scientific CRISPR researcher about the future possibilities of CRISPR-based therapies. This is a collaboration between the CRISPR Center and the Emma Center for Personalized Medicine.
Preclinical section
In the preclinical section of the Therapy Clinic, new possibilities for therapy are identified and tested in the laboratory. Model systems are developed and validated by correlating preclinical readout parameters with clinical biomarkers.
Through the Amsterdam UMC iPSC core facility, novel drug targets are identified, and therapies are tested in iPSC-based model systems of rare genetic diseases. This allows the establishment and successful implementation of therapy screening based on molecular or drug intervention protocols.
Clinical section
In the clinical section, we systematically evaluate experimental treatments -such as use of drugs, nutritional therapies, and RNA and gene therapies- directly in patients. The clinic fulfills three main roles:
- Application of therapies
We apply a variety of therapies to different diseases in clinical care or research settings (clinical trials). Using innovative trial designs combined with the latest knowledge on therapeutic strategies, we generate allow for high-quality evidence on treatment effectiveness, safety, and tolerability.
- Advisory role
We provide expert advice on the best possible therapy, how evidence can be generated (performing) considering innovative study designs, and how progress should be monitored, including relevant personalized outcome measures. In our monthly multidisciplinary expert meetings, we discuss the best possible therapies case based. We support physicians by providing protocol templates, knowledge, skills, and resources for single-case (experimental) studies. By using master protocols, we enhance efficiency, reduce costs, accelerate trial development, and address ethical considerations.
- Registry
We consolidate treatment outcomes from care and from investigator- and pharma-initiated trials into a database. Ultimately, this data may inform therapeutic options for other patients with rare genetic diseases and contribute to the decision-support system that predicts indications and patient responses to therapies.
Our team, consisting of clinicians, trialists, methodologists, and a pharmacist, has the expertise needed to bring promising therapies to patients with unmet clinical needs.
The Emma CPM is a center of expertise at the Amsterdam UMC focusing on patients and families with a rare genetic disorder.
A collaboration between the Emma Children's Hospital, the Department of Human Genetics, the Laboratory of Genetic Metabolic Diseases, and various departments and laboratories.