Pilar Magoulas - I was very excited to find out in January that my collaborators and I were recently awarded a $30,000 grant from NORD (National Organization of Rare Disorders), sponsored by CFC International, to evaluate growth failure and growth hormone abnormalities in individuals with CFC syndrome, and to create standardized growth curves for children with CFC. Growth charts for Noonan syndrome and Costello syndrome have already been created, so we are excited to start this process for the CFC families as well. I think that having standardized growth curves for all of the RASopathies will be a huge step in understanding the similarities and differences in growth between the conditions, which will help us all learn how to effectively treat individuals affected with these conditions. The purpose of this study is to: 1. Create standardized growth curves for height, weight, and head circumference for males and females with CFC syndrome who have never received growth hormone (GH) supplementation. 2. Assess the prevalence of GH deficiency in individuals with CFC syndrome. 3. Assess the prevalence of GH supplementation (with or without GH deficiency) in individuals with CFC syndrome. 4. Review the change in growth velocity in individuals with CFC after GH therapy in those with and without growth hormone deficiency and compared to those who have never received GH therapy. 5. Determine if there are any correlations between the gene involved and growth, GH deficiency, and the response to GH treatment. We will be requesting and reviewing medical records from patients and families, as well as sending out a detailed questionnaire asking about growth and growth hormone testing. Please be on the lookout the next few months for more details about how to participate in this study!
Posted on: Sat, 10 May 2014 13:39:52 +0000
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