Hope for PDCD Foundation

The difference between a patient registry and a natural history study can often be a source of some confusion in the rare disease community. In many ways they overlap and in other ways they are different. We at Hope for PDCD did our best to provide a broad generalization of a typical breakdown between the two, but keep in mind these factors may be different for different disease populations. You can read more about the PDCD Natural History Study being conducted at UPMC at: https://lnkd.in/gwEu6dvD. And read more about the Patient Registry at https://lnkd.in/gETg-v5z.

The PDCD Natural History Study is now enrolling more patients: The Division of Genetic and Genomic Medicine at UPMC Children’s Hospital of Pittsburgh is conducting a research natural history study for children and adults with pyruvate dehydrogenase complex deficiency (PDCD).The goal of the research study is to collect information about patients with PDCD for future investigational studies and therapies for PDCD. We hope to learn how factors like a person’s genetic make-up, dietary choices, and environmental exposures combine to influence disease progression by collecting medical record (MR) information and biological samples (such as blood, or discarded tissue samples) from patients with PDCD. Ultimately, we hope to use this information to guide the development of treatments for different types of PDCD. We are planning to enroll a minimum of 150 subjects with PDCD from medical centers in the United States and Canada. We are also asking for family participation because PDCD is an inherited disorder. Studying both affected and unaffected family members may help us to better understand the clinical significance of the disease. As part of the study, we ask you to complete an annual questionnaire, collect and review medical records, and collecting blood for genetic testing if necessary. If you/your child are interested in learning more and/or participating, please contact the Principal Investigator (Dr. Jirair K. Bedoyan) or his research coordinator (Ms. Danielle Black) at the number provided below to receive additional information. Principal Investigator: Dr. Jirair Bedoyan, MD, PhD, FACMG Study Coordinator: Danielle Black, MPH UPMC Children’s Hospital of Pittsburgh Division of Genetic and Genomic Medicine 4401 Penn Avenue, Pittsburgh, PA 15224 412-692-6893

Our mouse model proof of concept study at UTSW is showing promising data in terms of viability. The PDHA1 knockout mouse is showing initial signs of replicating the disease in humans, allowing the experiment to progress to the next stage. A good mouse model lays the foundation for many future research opportunities, allowing researchers to test multiple therapeutic modalities and moving our community one step closer to clinical trials. We hope to share another update on progress of the mouse model study in Fall 2024. Thank you to all of our supporters, cheerleaders, and donors who got us this far. Our researchers know how precious every dollar is. We’re incredibly grateful for every lemonade stand, bake sale, auction, athletic event, letter writing campaign, social media campaign, birthday fundraiser, t-shirt purchase, bracelet purchase, prayer and words of encouragement that enabled this research. Our community is wealthy in hope, support, and love for all the PDCD families.

We are now up to 19 members in the Mitochondrial and Inherited Metabolic Disease taskforce with Critical Path Institute (C-Path) with LHON COLLECTIVE being the newest member! Why participate or share data? ✔ By participating or sharing data with C-Path your data is entrusted to a neutral entity with expertise in data governance, sharing, proper data aggregation and analytics, and working with regulatory bodies. ✔ Data contributors decide how their data is shared and used. ✔ All of this together has the maximum chance of benefiting as many people living with mitochondrial and metabolic diseases as possible. #leighsyndrome #mitochondrialdisease Amanda Klein Alexandre Bétourné, PhD, PharmD, PMP

REMINDER: THIS IS TODAY @3pm PST on instagram (@hopeforpdcd) Did you have major FOMO seeing our board members take on DC for Rare Disease Week last month? Never fear, join us for an Instagram Live on Thursday next week as we discuss Layna O'Connor and Nikki Kulovitz's experience of a lifetime meeting with their state reps and other rare disease advocates in Washington DC. Save the date for Thursday, March 28 at 3 PM PST / 6 PM EST. We will also cover the latest efforts to add PDCD to newborn screening in every state across the country! Don't miss it. For more information on how to write to your own reps about PDCD advocacy, visit https://lnkd.in/gpUDbgzA. #raredisease #pdcd #hopeforpdcd #rarediseaseweek

🎉 𝑨𝑵𝑵𝑶𝑼𝑵𝑪𝑬𝑴𝑬𝑵𝑻 🎉 Hope for PDCD has launched a patient registry! QUICK FACTS This is the first ever international registry that is specific to PDCD and has been informed by both PDCD caregiver, patient and clinician input. Our patient registry is hosted on the CoRDS platform by Sanford Research, a strategic decision to reduce the burden of registering on the 25-35% of PDCD patients who also have a Leigh Syndrome diagnosis. Patients with both PDCD and LS can fill out one general survey and consent form and then fill out the disease specific surveys all on the same platform. Hope for PDCD Foundation thanks Cure Mito Foundation for their incredible leadership and partnership on this effort. Our patient registry is not the same as the Natural History Study being conducted by UPMC. They are both important data collection tools that complement each other, but they are not the same. We encourage everyone in the PDCD community that lives in the USA and Canada to fill out both. The patient registry is also open to international PDCD families. A patient registry is important to be counted in the census of the PDCD population and allows clinicians to contact you for relevant clinical trial opportunities. It is also key to unlocking investment dollars from the biotech industry to prove that PDCD is a commercially viable disease. If you can do two things to help advance a cure for PDCD this year, let it be joining the NHS at UPMC and the patient registry by Hope for PDCD. Questions? Please contact CoRDS at (877) 658-9192 during business hours, 8:00am-4:30pm (CST) Monday through Friday or email cords@sanfordhealth.org. 𝐆𝐨 𝐭𝐨 𝐡𝐨𝐩𝐞𝐟𝐨𝐫𝐩𝐝𝐜𝐝.𝐨𝐫𝐠/𝐩𝐚𝐭𝐢𝐞𝐧𝐭-𝐫𝐞𝐠𝐢𝐬𝐭𝐫𝐲 𝐭𝐨 𝐞𝐧𝐫𝐨𝐥𝐥 𝐭𝐨𝐝𝐚𝐲.

Exciting news!

One of our parent board members, Nikki Kulovitz, interview with WTVA discussing pushing lawmakers to place PDCD on the national newborn screening

Today, February 29, marks Rare Disease Day 2024. This day shines a light on the global and diverse community of over 300 million people living with a rare disease and their families.