The importance of biobank and nationwide registry for lymphangioleiomyomatosis in a small sized country

Abstract

Introduction: Patient registries combined with the collection of human specimens in biobanks are of great value for facilitating research on orphan diseases, allowing researchers to obtain valid and reliable epidemiological information. This results in an increase of knowledge on epidemiology, course of disease, clinical presentation and underlying biomarkers. The biobank in the St. Antonius Hospital in Nieuwegein, the Netherlands, is used for nationwide registry of patients with lymphangioleiomyomatosis (LAM), an ultra rare interstitial lung disease characterized by smooth muscle proliferation in the lungs.

Areas covered: This paper provides a review of the global prevalence and disease characteristics of LAM. Additionally, disease characteristics of patients derived from the nationwide registry in the Netherlands will be described and compared with the literature.

Expert opinion: A nationwide registry and biobank for ultra rare diseases such as LAM allows for country-specific insight in epidemiology and clinical characteristics. Active cooperation between health care professionals and patients is of utmost importance to increase general awareness and successful coverage ratio of inclusions. The Dutch LAM registry and biobank will now be able to participate in the global LAM registry of the LAM Foundation International Clinics program, with the purpose of identifying patients and availability for trials and bio-specimens for basic research worldwide, when possible.

Keywords:

• biobank
• disease characteristics
• disease registry
• epidemiology
• lymphangioleiomyomatosis

Acknowledgements

The authors thank the Tante Mela Foundation for their financial support on the establishment of the nationwide registry for LAM, and the patient association ‘Stichting LAM-Nederland’ for informing their members about the registry.

Declaration of interest

FX McCormack is scientific director of The LAM Foundation. CHM van Moorsel received a grant from the Tante Mela Foundation. JC Grutters is scientific advisor of the Dutch patient association ‘Stichting LAM Nederland’. The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Notes

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