Life with Neurofibromatosis type 1

Grantee: Jeanette Falck Winther, Professor, Consultant, MD, DMSc; Danish Cancer Society Research Center (DCRC), Denmark

Amount: DKK 3,996,784

Neurofibromatosis type 1 (NF1) is a progressive genetic disorder characterized by changes in skin and growth of tumors along nerves in the skin and other parts of the body.

The clinical signs of NF1 are well‐described, but the impact of NF1 on the daily life and the burden of treatment is less studied.

By combining data from nationwide registries and questionnaires, we will assess drug use and surgery in individuals with NF1, socioeconomic consequences of living with NF1 as well as predictors of quality of life. Patients with NF1 are identified in the Danish National Hospital Register and from two National Centers of Rare Diseases at Copenhagen University Hospital, Rigshospitalet, and Aarhus University Hospital.

Outcomes in 2,517 individuals with NF1 (drug use, surgical procedures, employment status, income, social security benefits and ninth school grades) will be compared to those in a healthy comparison group. In a sub‐group of 244 adults with NF1, we will examine how these specific outcomes will impact quality of life. Individuals with NF1 are particularly vulnerable for a lower living standard and prosperity with extensive costs for the society.

We believe that the results of these studies will add a major contribution to the NF1 research field as well as improve our understanding of the implications this complicated disease may have on life. The clinical information provided by these large nationwide studies is highly requested by the patients and their families but also by the clinicians advising these patients.