Natural History Studies

Natural history studies are a way of collecting information to increase the understanding of a disease and its management. A natural history study is a preplanned, observational study intended to track the course of the disease. Its purpose is to identify demographic, genetic, environmental, and other variables (e.g., treatment modalities, concomitant medications) that relate to the disease’s development and outcomes.

NCIMD currently have four externally (Sponsor) funded observational studies in Homocystinuria (HCU)/ Cystathionine beta-synthase deficiency,  Mucopolysaccharidosis type IV (MPS IV)/ Morquio syndrome,  Mucopolysaccharidosis type 1 (MPS 1)/ Scheie and Hurler syndrome.

Each of these studies is led by a principal investigator (PI). At NCIMD the PI is usually a Consultant Metabolic Paediatrician or medical doctor. The PI leads a team of research staff that could include doctors, dieticians, nurses, researchers, and healthcare assistants. The Consultant is qualified and knows the patient well ensuring that patient safety and well-being is precedence.

For more information contact