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To discover the natural course of the disease, its clinical and biochemical characteristics, and genotype and phenotype correlations that might allow for modification of disease course, while also providing families access to information and greater support in dealing with their children’s illness.
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To develop algorithms of clinical suspicion and diagnosis that will permit early diagnosis of the disease and its complications, thereby allowing for early and up-to-date therapeutic attention as knowledge of the disease and its course grows.
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To create practical clinical guidelines for consensual medical decisions based on shared, cumulative experience among the doctors participating in the group, with review of the literature and direct analysis of real patient data.
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To generate observations leading to new hypotheses and possible therapies, thereby encouraging continuity and exchange between basic and clinical investigation.
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To increase relevant information for participating families concerning proper management of the illness, with general professional support to complement, but not replace, medical advice.
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To identify specific care needs associated with the disease that may then be studied and relayed to the appropriate medical teams with the aim of improving overall patient-centered care.
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To offer the scientific community a technological tool that will enable international cooperation among professionals so as to promote clinical research in rare diseases and consensus on their treatment.
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To facilitate universal access to information about rare diseases that can overcome geographical barriers and lessen the sense of isolation of the families of patients and of physicians treating these illnesses.
