EspeRare Foundation

In the Q3 2024 issue of Rare Diseases by Mediaplanet, Sharon Terry, CEO of Genetic Alliance and President of EspeRare, highlights the critical need for equitable, patient-centered solutions in rare disease care. “The urgency for equitable access to state-of-the-art genomic-based sequencing has never been more critical,” Sharon states. She passionately advocates for inclusive research and collaboration to address the unmet needs of underserved populations. Sharon’s vision extends through iHope Genetic Health, a groundbreaking Genetic Alliance program offering free genome and exome sequencing for children suspected of genetic diseases, providing accurate diagnoses for better follow-up care. You can read the full article on page 8 posted here. To find out more about iHope Genetic Health click here.

EspeRare is currently looking to re-launch the development of ER004 (formerly known as EDI200) as a treatment for babies affected by X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED). XLHED is a serious rare disease that is life-threatening, ... Read More EspeRare is currently looking to re-launch the development of ER004 (formerly known as EDI200) as a treatment for babies affected by X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED). XLHED is a serious rare disease that is life-threatening, particularly in the first years of life. Infants affected by this genetic disorder cannot sweat and are at risk of sudden death due to hyperthermia and severe respiratory issues. See here for more information on the disease. ER004 is the first and only therapy for this disease. ER004 was developed until 2015 by Edimer Pharmaceuticals (US). Unfortunately its development was stalled following a clinical setback as the treatment, when administered to newborn babies, did not seem to provide therapeutic benefits. In the meantime, Prof. Holm Schneider, a German medical expert, renewed hope for XLHED patients. When he administered ER004 in-utero to 3 babies (including Maarten & Linus, the babies in the picture), he could show that these patients were subsequently able to sweat normally. These results highlight the strong potential for this therapy, when administered during pregnancy, to address the most debilitating aspects of XLHED. See here for more information on Maarten and Linus. Using Prof. Holm Schneider’s promising new in-utero approach, EspeRare is now restarting the development of this promesing therapy. Currently, the main hurdle to overcome is to find the right regulatory and funding path forward. Once those challenges are addressed, clinical development in Europe is set to restart as early 2018. Importantly and in-line with our patient-centered approach, EspeRare is partnering with XLHED patient associations, such as the American organisation NFED, to better understand the patients needs and their expectations from a therapy. See here for news from NFED. Together with our partners, we are working very hard to ensure a way forward for this ground-breaking treatment. We hope to be able to share more exciting news on this program soon!

EspeRare is delighted to announce our return to the National Foundation for Ectodermal Dysplasias (NFED) Annual Family Conference, taking place from July 7-9, 2024, at Grand Hyatt, Washington, D.C. We will be presenting our EDELIFE trial for X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) Edelife | XLHED Clinical Trial I For Pregnant Women (edelifeclinicaltrial.com), including the opening of a new clinical site in the US, in Los Angeles. The Principal Investigators in the US, Prof Dorothy Grange and Prof Ophir Klein, will also be present and available for discussion. This year, the NFED is having a Day on the Capitol Hill, on Monday, July 8, to advocate for and make a difference for those living with ectodermal dysplasia and other congenital anomalies. Pierre Fabre and EspeRare are proud to be standing with the NFED. For more details on the event, please visit the NFED Stand Together 2024 event page.