Pilot phase

All rare diseases can be entered into NARSE from the outset. In the pilot phase, the following ultra-rare diseases, for which therapy development appears possible in the foreseeable future, will also be focused on to evaluate the registry:

• genetically determined forms of obesity
• LEP mutations 
• LEPR, POMC and PCSK1 mutations 
• Prader-Willi syndrome 
• Bardet-Biedl syndrome 
• Neuromyelitis optica spectrum disorders 
• Lafora syndrome 
• metachromatic leukodystrophy (sulfatid lipidosis) 
• Simpson-Golabi-Behmel syndrome (SGBS) 
• Osteogenesis Imperfecta (OI, ‘brittle bone disease’) 
• Alström syndrome 
• Cystic fibrosis (mucoviscidosis) 
• IRF2BPL / NEDAMMS