What are Registries?

About Lysosomal Acid Lipase Deficiency (LAL-D) How Does the Registry Work? Why Participate? How to Enroll Registry Governance Patient Organizations

Disease registries are observational studies that can be used to collect information for a variety of purposes, including understanding the natural history of a disorder, assessing management practices, and assessing current treatment short- and long-term outcomes. Disease registries, unlike product registries, are open to all patients with a diagnosis of the disease irrespective of their treatment status or treatment choice.¹

Registries have played a key role in providing long-term data for common diseases such as cancer, and cardiovascular illnesses,^2,3 as well as for chronic and rare diseases, such a spinal muscular atrophy,⁴ phenylketonuria,⁵ dystrophic epidermolysis bullosa⁶  and the Lysosomal Storage Diseases.⁷ For such rare diseases, epidemiologic data may be lacking; their rarity means that few data outside of case reports or clinical trials exist on the disease course, and experience with possible treatments is limited.⁸

Registries are, by definition, epidemiologic observational cohorts, generally without restrictive inclusion and exclusion criteria, and with treatment decisions left to the discretion of the healthcare professional.⁸

The data collected are often disseminated as aggregate in anonymous fashion, and anaylzed to improve the understanding of the disease and help optimize patient care, or may be provided to the health authorities such as: (US Food and Drug Administration [FDA] or the European Medicines Agency [EMA]) to help understand treatments in the 'real world'.^1,8 Additionally, data may be summarized on a case-by-case basis to help doctors review trends of disease over time with the healthcare team or with the patients themselves.

Participation of physicians and patients in registries is critical to their success: for registries to be most useful, and to be representative of the whole patient population, they need to include all eligible participants.⁸ As a result of the contributions registries have already made to understanding the natural course of diseases, providing data related patient outcome, and guiding the development of furture therapies, registries are widely accepted as an integral component of the study of rare disorders.

Due to the limited available evidence, there is a need to investigate the signs, symptoms, and progression of Lysosomal Acid Lipase Deficiency (LAL-D) in a large cohort of patients to better understand and improve management of this disease. The LAL-D Registry is a global registry, established to improve care for patients through improved understanding of the disease and long-term effectiveness of therapeutic interventions.^7,9

References
1. Gliklich RE, et al. 3rd edition. Rockville (MD): Agency for Healthcare Research and Quality (US); 2014 Apr. Report No.: 13(14)-EHC111.
2. Steg PG, Bhatt DL, and Wilson PW, et al. One-year cardiovascular event rates in outpatients with atherothrombosis. JAMA. 2007;297(11):1197-206.
3. Cooperberg MR, Broering JM, and Litwin MS, et al. The contemporary management of prostate cancer in the United States: lessons from the cancer of the prostate strategic urologic research endeavor (CapSURE), a national disease registry. J Urol. 2004;171(4):1393-401.
4. Oskoui M, Levy G, and Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007;69(20):1931-6
5. Lee PJ, Ridout D, and Walter JH, et al. Maternal phenylketonuria: report from the United Kingdom Registry 1978-97.
Arch Dis Child. 2005;90(2):143-6.
6. van den Akker PC, Jonkman MF, and Rengaw T, et al. The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat. 2011;32(10):1100-7.
7. Balwani M, Balistreri W, and D'Antiga, et al. Clinical manifestations of lysosomal acid lipase deficiency (LALD):
The international LAL-D registry. Mol. Genet. Metab. 2019;129(2):S26.
8. Jones S, James E, and Prasad S. Disease registries and outcomes research in children: focus on lysosomal storage disorders. Paediatr Drugs.
2011;13(1):33-47.
9. NCT01633489. ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/ NCT01633489