Lessons learned from the field of rare diseases PERSPECTIVE To assist the medical community with the community of treating specialists and stimulates development of recommendations for physician and patient education and exchange monitoring patients of knowledge To assist patients in learning about their dis., To be useful for health technology assessment, the data queried for, need to be incorporated ease and to report on patient outcomes to help the regis for registries setup for the follow- design, which may often not (ye ptimize patient care; To evaluate the long-term effectiveness of up of clinical trials or postapproval regulatory the treatments, to report outcomes to demands, and therefore, we may need adaptive The challenges faced in developing registries To provide clinical data for further product and the methods for capturing patient data and outcomes may be important for personal The supranational or global nature of such ized healthcare applications in real-life settings egistry will increase understanding (natural Nevertheless, registries also have limitations history, ethnicity and genetics)of and aware- the data gathered are less controlled than in a ness about the rare disease and the therapy(tim- clinical trial setting and related to all patients of ng, dosing and outcomes), facilitate physician which data are stored, and not to a specifically patient monitoring and setup of therapeutic defined cohort of patients. These data may there- goals, support the development of diagnosis, fore also contain bias. Moreover, registries only disease-monitoring and disease-management contain data as defined at the time of the design uidelines, and analyze(long-term)treatment of the registry, and therefore, may be limited in outcomes. It helps develop an international the responses that can be obtained from them Sandhoff No CNS involvement orde GM1 gangliosides Gaucher Infantile Batten Mixed Scheie(MPS-I S) Hurler-Scheie(MPS-l H/S) Juvenile Batten Niemann-Pick A Maroteaux-Lamy(MPS-vI) Hurler(MPS-l H) leukodystrophy Late infantile Batten Morquio MPS-v) Krabbe Hunter(MPS-l Figure 1. An overview of the relative frequency of lysosomal storage diseases. There are diseases caused by deficient enzymes in the liposomes. If they have involvement in the CNS, replacement enzymes are not able to pass through the blood-brain barrier because of their size. This means that such diseases are not targets for enzyme replacement therapies, and that another therapeutic approach is neede MPS: Mucopolysaccharidosis. w. futuremedicine corPerrsppective Tambuyzer Tambuyzer ƒ To assist the medical community with the development of recommendations for monitoring patients; ƒ To assist patients in learning about their dis￾ease and to report on patient outcomes to help optimize patient care; ƒ To evaluate the long-term effectiveness of the treatments, to report outcomes to the authorities; ƒ To provide clinical data for further product development for the disease. The supranational or global nature of such registry will increase understanding (natural history, ethnicity and genetics) of and aware￾ness about the rare disease and the therapy (tim￾ing, dosing and outcomes), facilitate physician patient monitoring and setup of therapeutic goals, support the development of diagnosis, disease-monitoring and disease-management guidelines, and analyze (long-term) treatment outcomes. It helps develop an international community of treating specialists and stimulates physician and patient education and exchange of knowledge. To be useful for health technology assessment, the data queried for, need to be incorporated in the registry design, which may often not (yet) be the case for registries setup for the follow￾up of clinical trials or postapproval regulatory demands, and therefore, we may need adaptive registries in the future. The challenges faced in developing registries and the methods for capturing patient data and outcomes may be important for personal￾ized healthcare applications in real-life settings. Nevertheless, registries also have limitations: the data gathered are less controlled than in a clinical trial setting and related to all patients of which data are stored, and not to a specifically defined cohort of patients. These data may there￾fore also contain bias. Moreover, registries only contain data as defined at the time of the design of the registry, and therefore, may be limited in the responses that can be obtained from them. Gaucher No CNS involvement CNS involved Mixed Juvenile Batten Fabry Metachromatic leukodystrophy Sanfilippo A (MPS-IIIA) Late infantile Batten Krabbe Hunter (MPS-II) Morquio (MPS-IV) Pompe Niemann-Pick C Tay-Sachs Hurler (MPS-I H) Sanfilippo B (MPS-IIIB) Maroteaux-Lamy (MPS-VI) Niemann-Pick A Cystinosis Hurler-Scheie (MPS-I H/S) Scheie (MPS-I S) Infantile Batten GM1 gangliosidosis MPS-II/III Sandhoff Other (9 disorders) Figure 1. An overview of the relative frequency of lysosomal storage diseases. There are diseases caused by deficient enzymes in the liposomes. If they have involvement in the CNS, replacement enzymes are not able to pass through the blood–brain barrier because of their size. This means that such diseases are not targets for enzyme replacement therapies, and that another therapeutic approach is needed. MPS: Mucopolysaccharidosis. Data taken from [21]. future science group www.futuremedicine.com 575 Lessons learned from the field of rare diseases Perspective