| Terminated | N/A | 11 | RoW | | CENTOGENE GmbH Rostock | Hunter Syndrome, Mucopolysaccharidosis II, Hunter's Syndrome, Mild Form, Hunter's Canal Syndrome | 12/22 | 12/22 | | |
| Recruiting | N/A | 1000 | Europe | Genetic testing via blood collection | Rolfs Consulting und Verwaltungs-GmbH (RCV), Rhythm Pharmaceuticals, Inc. | Obesity, Childhood, Hyperphagia, Retinopathy, Syndactyly, Polydactyly, Cognitive Impairment, Bardet-Biedl Syndrome, POMC Deficiency | 03/26 | 03/27 | | |