Collaborative Defining the Natural History of Inborn errors of Metabolism

描述（由申请人提供）：新生儿血斑筛查的主要假设是早期诊断和治疗是对公共资源的良好投资，无论是对被检测的个人还是对社会。虽然改善结果的一些效果似乎是不言而喻的，但对于大多数筛查过的新生儿疾病，没有对筛查确定的儿童结果进行全面、长期的评估。为了验证早期识别、干预和治疗的有效性，对结果进行纵向评估是必不可少的。更好地了解罕见代谢紊乱的自然历史和当前治疗的有效性对于提供最佳护理和促进患有这些疾病的儿童的最佳可能结果是必要的。

DESCRIPTION (Provided by Applicant): Newborn blood spot screening is undertaken with the primary assumption that early diagnosis and treatment is a good investment of public resources, both for the individuals tested and for society. Although some effects of improved outcomes seem self-evident, for most newborn-screened disorders there is no comprehensive, long-term assessment of outcomes for children identified by screening. To verify the effectiveness of early identification, intervention, and treatment, longitudinal assessment of outcomes is essential. A better understanding of the natural histories of rare metabolic disorders and the effectiveness of current treatments is necessary to provide optimum care and promote the best possible outcomes for children with these conditions. The Inborn Errors of Metabolism Collaborative (IBEMC), consisting of 13 clinics from 10 states, will collect longitudinal data that capture the clinical progress of persons affected with conditions identified by newborn screening, focusing on inborn errors of metabolism. Data will be used to better define the natural histories and understand the effect of treatment interventions. The database will allow for: 1. Investigation of the relationship among NBS values, genotype, and early manifestations as well as complications of inborn errors of metabolism; 2. Evaluation of the impact of early identification and intervention on metabolic conditions; 3. Informed decision making about optimal public health investment in NBS; 4. Clarification of the previously undefined natural history of very rare metabolic conditions; and 5. Identification of current nutritional and therapeutic interventions for children with metabolic conditions and evaluation of their effectiveness. The IBEMC will build on the work of the HRSA-funded Region 4 Genetics Collaborative and be developed in collaboration with other national efforts, including the Newborn Screening Translational Research Network. The project will establish innovative practices to engage clinicians in a culture of collaboration, provide incentives to ensure collection of both intake and interval data, as well as offer supports that encourage data analysis. These efforts will result in investigations that provide a foundation for clinical trial design and improved treatment for children with inborn errors of metabolism. RELEVANCE: As a sufficient number of cases are entered for the rarer disorders, research will provide evidence as to the efficacy of early diagnosis and treatment. If research does not support the assumption on which NBS is based, i.e., early diagnosis and treatment are good investments of public resources, both for the individuals tested and for society, the NBS public health paradigm may change. It is possible that the increase in knowledge about the natural history of IBEM will lead to a change in how conditions are added to the NBS panel and that the conditions currently in the panel may be reviewed and revised.