Base de données de recherche des TNO

Régions: North Slave Region

étiquettes: health, children's health, blood testing

Objectif(s): To determine the NWT-wide and regional specific prevalence of a genetic change, known as the P479L variant, associated with mild Carnitine Palmitoyl Transferase-1 (CPT1) Deficiency and to determine the prevalence of the P479L variant in infants who died unexpectedly (from infection or unknown causes) in NWT.

Description du projet: The goals of this study are: 1. To determine the NWT-wide and regional specific prevalence of a genetic change, known as the P479L variant, associated with mild Carnitine Palmitoyl Transferase-1 (CPT1) Deficiency. 2. To determine the prevalence of the P479L variant in infants who died unexpectedly (from infection or unknown causes) in NWT. 3. To determine whether the P479L variant is associated with an increased risk for infant death. 4. To share this information with the Medical Officers of Health, appropriate community representatives and other public health professionals in NWT to determine whether newborn screening for the P479L variant and/or public health measures should be implemented to reduce adverse outcomes in infancy. *This proposed study does NOT involve any client/family contact. Also, this project does NOT involve the collection of any new blood samples. It is a retrospective, anonymous study. There are two parts to this project: 1. All blood spots routinely collected from babies born in NWT between: January 1, 2006 to December 31, 2006. will be retrieved from the Newborn Screening Program in Edmonton and tested for the P479L variant. We anticipate a sample size of approximately 700 births. Testing for the P479L variant will be performed at the BC Provincial Newborn Screening Program at the BC Children's Hospital, as they have the resources and expertise to test for the P479L variant. The newborn blood spots will be anonymized - the researchers involved will NOT be given any patient names (samples will only be identified by anonymous identifiers). The prevalence of the P479L variant in various regions of NWT will be determined by this study. 2. All infants (up to one year of age) who died unexpectedly (from infection or unknown cause) in NWT between 1999-2008 will be identified by Cathy Menard, Deputy Coroner of NWT. The coroner will request that the blood spots from these infants be retrieved from the Edmonton Newborn Screening program and forwarded to Dr. Vallance’s lab for P479L analysis. No patient names will be given to the researchers (samples will only be identified by anonymous identifiers). The proportion of infant deaths with the P479L variant will be compared to the prevalence in the general population, to determine if there is an association between unexpected infant death and having two copies of the variant. The results of this study will be communicated directly to the Chief Medical Officer of Health and Deputy Chief Coroner of the NWT. If the study reveals that the P479L variant is associated with a significant increased risk for infant death, it may be important for the health officers in NWT to initiate local public health measures including community education and/or newborn screening in order to reduce the risk for infant death. The extent of local involvement (including educational and social benefits) will therefore depend on the results of the study. No individual results will be communicated, given that this is an anonymous study. The results of this study will be communicated directly to the Chief Medical Officer of Health and Deputy Chief Coroner of the NWT. If the study reveals that the P479L variant is associated with a significant increased risk of infant death, it may be important for the health officers in NWT to initiate public health measures including community education and/or newborn screening. In the event of significant results, community education about the prevalence of P479L and strategies to help reduce the risk for infant death will be important. The fieldwork for this study will be conducted from March 16, 2010 to December 31, 2010.