Global Foundation For Peroxisomal Disorders

Programs: The 2017 gfpd scientific conference was held july 13-14 in washington d. C. With scientific sessions geared toward potential therapies for peroxisomal disorders. Over 30 speakers as well as 60 attendees collaborated on novel treatment options for peroxisomal disorders. The innovative conference lineup included sessions on peroxisome biology and model systems, small molecule therapies, drug therapies, biochemical approaches to treatment. Sessions also included talks on therapies for hearing and vision loss as well as blood and liver disorders and stem cell and gene therapy approaches.

the 2017 gfpd family conference was also held in washington d. C. July 14-17 and was attended by 45 families from around the world impacted by peroxisomal disorders. Families had the opportunity to participate in several research projects taking place during the meeting. Blood samples were taken from patients to analyze bile acid metabolites that will assist in the understanding of liver metabolism and natural history in pbd-zsd. Through collaboration with children's national health system several patients received dexa scans to measure bone mineral density. Children with pbd are at a high risk for brittle bones and fractures due to low bone density. Several patients with pbd and their parents participated in the nih sponsored "facebase" facial profile project. This study is ongoing and aims to create a 3-d facial photo database to help doctors diagnose genetic conditions like pbd-zsd. This type of resource may aid in earlier diagnosis for pbd-zsd and other hard-to-diagnose genetic conditions. Caregivers had the opportunity to participate in a focus group project to understand the caregiver experience and uncover previously unmet medical needs in pbd-zsd and related peroxisome disorders. Dr. Wadih zein at the national eye institute (nei) saw several patients to document eye disease (particularly retinal issues) in pbd-zsd.

research funding supported a postdoctoral fellowship for research at the national center for advancing translational sciences (ncats), using high-throughput drug screening to uncover therapies for children with pbd-zsd. Research, conducted in the nih laboratory of dr. Inglese with co-mentorship from dr. Hacia of usc, is focused on the development of bioassays subsequently used in the assessment of drugs, investigational agents and genetic factors for their ability to improve peroxisome functions in cultured cells obtained from people with pbd-zsd. This research will lead to a better understanding of the basis of pbd-zsd which we hope will contribute towards the development of candidate small molecule therapies that can be tested in clinical trials. Grants were also awarded for neurodegeneration and vision loss studies, as well as diosmetin and betaine therapy. "

family support initiatives included facilitating an equipment exchange program for families to share medical equipment they are no longer using. Additionally, families received support via our online support groups and educational mailings.