At Premier Research, we attend a lot of events throughout the year – and through these events, we have the opportunity to meet individuals from all sides of the clinical development process. At the recent Global Genes RARE Patient Advocacy Summit, we met countless patients, advocates, and their families, including Kim Tuminello and her daughter Paige. Paige has a rare metabolic disorder and, as the winner of our digital camera giveaway, allowed us to spend some time discussing the challenges of her disorder with her.
Kim is the co-founder and director of advocacy at the Association for Creatine Deficiencies (ACD), an important non-profit organization serving all patients and their families affected by cerebral creatine deficiency syndromes (CCDS). The organization is committed to providing patient, family, and public education; advocating for early intervention through newborn screening; and promoting and funding medical research for treatments and cures for CCDS.
“Through coming together as a community and participating in surveys, studies, research meetings, and by sharing expertise with the Cerebral Creatine Deficiency syndromes community, we are pushing the boundaries of knowledge and are making progress towards cures,” says Laura Trutoiu, ACD’s Director of Research.
Learn more about ACD and their commitment to patients and transformative research here, and see how we’re bringing patients and sponsors together through our Patient and Stakeholder Engagement (PASE) services.
“There are not many advantages to having a rare metabolic disorder as a child,” said Kim. “But through winning this raffle, you’ve certainly made her day!”