Achondroplasia & Skeletal Dysplasia Research Conference
Register for our 7th Annual Achondroplasia & Skeletal Dysplasia Research Conference: PHARMACHON – Saturday, July 12, at Convene 100 Stockton (40 O’Farrell Street, San Francisco, CA 94108). This event explores the cutting edge of clinical trials, drug development, and more for achondroplasia, hypochondroplasia, and other skeletal dysplasias.
PHARMACHON is the premier event in North America dedicated to skeletal dysplasias—uniting advocates, families, researchers, and clinical trial leaders for a bold and collaborative exchange of science, support, and lived experience.
Whether you’re newly diagnosed or deeply involved in the community, PHARMACHON offers a uniquely welcoming space to connect directly with top physicians, cutting-edge researchers, and others who truly understand the journey. Together, we’re shaping the future of care.
Key objectives this year include:
- Advancing research on early-life feeding challenges in children with achondroplasia, and exploring how weight, nutrition, and health are managed across the lifespan in individuals with skeletal dysplasias.
- A behind-the-scenes look at what it really means to participate in a clinical trial—from enrollment to impact.
- Breakthrough findings from ongoing studies, plus a qualitative deep dive into the lived experience of individuals with hypochondroplasia.
- Exclusive updates from Ascendis Pharma, BioMarin, QED Therapeutics, and Tyra Biosciences on their latest research and clinical trials.
- …and more!
2024 recap
Our sixth event brought together families, patients, physicians, researchers, and professionals from the pharmaceutical and industry sectors. Over 100 attendees, both in-person and online, joined us from the United States and 12 other countries. Participants gained valuable insights into the latest research and developments regarding surgical treatment options, current FDA-approved treatments like VOXZOGO®, and potential therapies in the pipeline for achondroplasia and other skeletal dysplasias.
One of the most significant sessions this year focused on hypochondroplasia. Due to a notable increase in new research, we dedicated an entire session to hypochondroplasia, which featured five consecutive presentations. This was followed by a Q&A panel moderated by Dr. Andrew Dauber, the Chief of Endocrinology at Children’s National in Washington, D.C.
Rising Love | Patient & Parent Advocates | Physicians | Pharmaceutical Companies | Hypochondroplasia Research | Presentation Decks | Recorded Sessions
The conference began with a Rising Love event, sponsored by BioMarin, which featured book readings and fun, family-friendly activities. These events allow children with achondroplasia and their families to connect with one another, share stories, and build lasting friendships. Local Baltimore chef Ryan Scalfari, who has achondroplasia, demonstrated how to make focaccia bread. Ryan and Chandler met at the International Center for Limb Lengthening, where they both received limb lengthening treatment.
Susana Noval, director of Fundación ALPE Acondroplasia, presented “A Roadmap for Achondroplasia.” This roadmap is a collaborative project undertaken by the ALPE Foundation in partnership with other patient organizations worldwide. This resource is intended to provide general information for people affected by achondroplasia and is not intended as a promotional tool.
Kristen DeAndrade of The Little Legs Big Heart Foundation shared her journey of living with achondroplasia and also announced the upcoming launch of “My Achon Journey,” a resource that will provide pathways to navigating achondroplasia from prenatal, infancy, and toddlerhood to early childhood. This resource was developed by QED Therapeutics, a BridgeBio Company.
Victoria Garcia, R.N., a mom to a young daughter with achondroplasia, shared her tips for navigating care from both a nurse’s and a mother’s perspective. After last year’s conference, she shared detailed notes she took from several of the presentations. These notes have received high praise from parents and caregivers.
Kicking off the hypochondroplasia session, Alexandra Niemczura, Ph.D., shared about her journey of raising a son with hypochondroplasia and also advocated for the unmet psycho-social and clinical needs. You can watch Alexandra’s presentation here!
Advances in understanding & treating achondroplasia
Throughout this session, attendees heard from world-renowned physicians specializing in the treatment of achondroplasia and other skeletal dysplasias. Although new pharmaceutical research is the most anticipated takeaway from the conference, it is still crucial to know about advancements in overall care and treatment (surgical and non-) protocols from birth to adulthood, head to toe.
Dr. Janet Legare, a pediatrician in Clinical Genetics at the University of Wisconsin School of Medicine & Public Health, presented on signs and symptoms of achondroplasia. She also shared her perspective on VOXZOGO® from a physician’s standpoint during the session, “One Family’s Journey.” Closing the achondroplasia focus of the conference, she moderated the achondroplasia research panel, which included Dr. Michael Bober (Tyra Biosciences), Bart Degèrve, Ph.D., M.B.A. (Ascendis Pharma), and Laura Guido, Pharm. D., M.B.A., B.C.P.S. (QED Therapeutics).
Dr. Jeffrey Campbell, a pediatric neurosurgeon at Nemours Children’s Health in Wilmington, Delaware, presented results from the Achondroplasia Natural History Study (CLARITY). The objective of the study is to determine the overall incidence of cervicomedullary decompression (CMD) in patients with achondroplasia and the characteristics associated with those surgeries across multiple institutions with experience caring for individuals with skeletal dysplasias.
Drs. Shawn Standard* and Philip McClure at the International Center for Limb Lengthening (ICLL) in Baltimore presented how they limb lengthening for dwarfism at the ICLL. They also discussed misconceptions surrounding the treatment and answered frequently asked questions.
It’s important to note that few institutes worldwide specialize in limb lengthening treatment, specifically for achondroplasia. When pursuing this treatment, it’s essential to visit an institute with physicians (orthopedists, anesthesiologists, etc.) who specialize not only in limb lengthening but also in limb lengthening for dwarfism.
Dr. Klane White, Chair in the Department of Pediatric Orthopedic Surgery at Children’s Hospital Colorado, is an internationally recognized expert and advocate for skeletal dysplasia. He is also an executive founding member and president of the Skeletal Dysplasia Management Consortium (SDMC). He presented on achondroplasia of the spine and shared information about the SDMC.
PHARMACHON: Pharmaceutical research for achondroplasia
The most anticipated session of the conference is learning about the latest research and updates in current and potential pharmaceutical treatments for achondroplasia. This year, Tyra Biosciences, Ascendis Pharma, and QED Therapeutics shared updates on their pipelines for achondroplasia.
Dr. Michael Bober, Vice President of Clinical & Medical Affairs at Tyra Biosciences, presented on TYRA-300 and achondroplasia.
The goal of TYRA-300 is to address long-term complications and improve the quality of life in individuals affected by skeletal dysplasias, including achondroplasia. Their drug discovery efforts are driven by structural insights from hundreds of internally solved FGFR crystal structures. The TYRA-300 (ACH) program is in the IND-enabling stage. (Source.)
At the conference, they announced the launch of their new achondroplasia website – check it out here!
Bart Degrève, Ph.D., M.B.A, Clinical Scientist of Global Clinical Development at Ascendis Pharma, presented “TransCon® Technology and Achondroplasia.”
Before the conference, Ascendis announced data from its Phase 2 ACcomplisH Trial of TransCon CNP (navepegritide) in children aged 2 to 10 with achondroplasia at the International Conference on Children’s Bone Health, held in Salzburg, Austria.
Laura Guido, PharmD., M.B.A., B.C.P.S., Senior Medical Director of Medical Affairs at QED Therapeutics, presented “PROPEL Program: Oral Infigratinib for Achondroplasia.”
The PROPEL clinical program studies a wide range of outcomes related to growth, medical challenges, and quality of life in children and adolescents with achondroplasia. Recently, BridgeBio announced sustained positive results from PROPEL 2.
Below is QED’s presentation deck, “PROPEL Program: Oral Infigratinib for Achondroplasia” from the conference.
BioMarin Pharmaceutical and Sanofi attended but did not participate in the pharmaceutical research session. In 2021, the FDA approved BioMarin’s VOXZOGO® (vosoritide) for injection for those with achondroplasia. In 2023, VOXZOGO was approved for children with achondroplasia under the age of 5.
Sanofi is the latest pharmaceutical company on the scene in achondroplasia research. They are conducting clinical research evaluating the investigational drug SAR442501 for treating achondroplasia in children under 12. This study will help determine if this new investigational study drug may help children with achondroplasia grow taller and improve skull growth compared to when they did not receive this investigational drug. The primary purpose of this study is to look at the safety and therapeutic effects of the investigational study drug in children with achondroplasia. For more information on this clinical trial, visit ClinicalTrials.gov with the identifier NCT06067425.
new HORIZONs FOR HYPOCHONDROPLASIA
As mentioned above, research surrounding hypochondroplasia was a significant focus of the conference. Attendees first heard from Alexandra Niemczra, Ph.D., who shared her journey so far of raising a son with hypochondroplasia. Following Alexandra’s presentation, Dr. Andrew Dauber presented data from the Phase 2 Trial Results on vosoritide treatment for patients with hypochondroplasia. Alexandra and Dr. Dauber’s presentations are available to watch below.
Dr. Andrew Dauber is the leading researcher in the first clinical trial of vosoritide in children with hypochondroplasia. Earlier this year, the first global Phase 2 study was published, showing an average increase in growth rate of 1.8 cm per year in these children.
Dorna Chu, PharmD from BioMarin, presented “Overview of Hypochondroplasia and BioMarin Clinical Research Program.”
In their 111-902 Study, they are working to better understand how children with hypochondroplasia grow. The study will assess growth over time and the clinical course of HCH in children by collecting growth measurements and other variables of interest.
This observational study is currently enrolling participants. For more enrollment information, please email medinfo@bmrn.com and reference study 111-902 in the subject line and body of your email.
Elena Muslimova, M.D., Ph.D., Medical Director of the ACCEL Program at QED Therapeutics, presented “ACCEL Program: Oral Infigratinib for Hypochondroplasia.” Before the conference, BridgeBio announced that the first child had consented to the ACCEL program.
The ACCEL program is a long-term, multicenter, non-interventional study of children ages 2.5 to <17 years with hypochondroplasia. The objective is to evaluate the growth, HCH-related medical complications, health-related quality of life, functional abilities, and cognitive functions of study participants. Additional details can be found at ClinicalTrials.gov.
The final presentation of the conference. “FGFR3 Selective Inhibitor TYRA-300 Increases Bone Length in a Mouse Model of Hypochondroplasia” was presented by Jacqueline Starrett, Ph.D., Director of In Vivo Pharmacology at Tyra Biosciences. The presentation included Tyra’s preclinical proof-of-concept results with TYRA-300, an investigational oral FGFR3 selective inhibitor, in hypochondroplasia. Click here for the official press release.