Currently we are recruiting patients for two clinical studies:
- Identification of CNNM2 mutations, patients with severe hypomagnesemia (< 0.6 mM) and suspected hereditary components are included for genetic testing of CNNM2 mutations.
- Clinical characterization, patients with known CNNM2 mutations are extensively characterized to develop diagnostic and treatment guidelines for CNNM2 patients. Mutations will be tested by functional assays.
Patients and health professional can contact Dr. Jeroen de Baaij for more information.