RARE Drug Development Symposium: Emerging Models & Partnerships

June 3, 2022

The 2022 RARE Drug Development Symposium kicks off June 8, and Global Genes is ecstatic about the speaker lineup for all of the sessions this year. Going with this year’s theme of disrupting innovation, Global Genes is going for a different approach with sessions this year. Formats will be more laid back and inclusive, with fireside chats to start the day, and workshop-style sessions with experts and peers throughout the day that will be offered at multiple times so you don’t miss any content. 

Emerging Models & Partnerships

Eliminating barriers requires us to rethink what’s possible. In this session, we’ll discuss and share experiences from some groundbreaking models, such as:

1) CDKL5’s successful global partnerships and resource-sharing, including CANDID, Loulou Foundation’s pre-competitive observational study involving seven industry partners, and the International CDKL5 Clinical Research Network (ICCRN), a collaborative engaged in an NIH NINDS-sponsored clinical trial readiness study
2) n-Lorem, a non-profit foundation that provides personalized ASOs to ultra-rare (1-30) patients for free and
3) PriZm Therapeutics, a biotech founded in 2021 which has rapidly pushed forward to obtain orphan drug designation, rare pediatric disease designation and FDA agreement on the primary endpoint, to bring a first-in-class treatment for MCT8 deficiency (AHDS), to phase 3 clinical trials.
4) the MPS Society which has served for over four decades as the national umbrella organization for multiple subtypes of mucopolysaccharidoses, supporting a collaborative research, funding and advocacy model specific to MPS and other lysosomal storage diseases groups.


Matthew Ellinwood, DVM, PhD
Chief Scientific Officer, National MPS Society

Dr. Ellinwood has over 24 years of experience in comparative medical genetics. Before becoming the Chief Scientific Officer at the National MPS Society, he led a world-class academic research team focused on neuropathic lysosomal storage diseases. He is experienced in basic and applied research including IND and clinical trial enabling collaborations with foundations and academic and industry partners, both nationally and internationally.  At the Society he works toward clinical progress and early patient access to effective therapy for all of the MPS and ML disorders.

Learn More:
We Cannot Rely on Clinical Diagnosis to Find MPS Patients Before Irreversible Disease Caused Damage
National Library of Medicine List of Citations

Selected Citations:
Grant N, Sohn YB, Ellinwood NM, et al. Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair. Mol Genet Metab Rep. 2022 Mar;30:100845. 
Eisengart JB, Esler AN, Ellinwood NM, et al. Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses. Mol Genet Metab. 2021 Sep-Oct;134(1-2):68-76. 
Harm TA, Hostetter SJ, Nenninger AS, et al. Temporospatial Development of Neuropathologic Findings in a Canine Model of Mucopolysaccharidosis IIIB. Vet Pathol. 2021 Jan;58(1):205-222.
Clarke LA, Dickson P, Ellinwood NM, Klein TL. Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience. Int J Neonatal Screen. 2020 Nov 19;6(4).
Ellinwood NM, Ausseil J, Desmaris N, et al. Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. Mol Ther. 2011 Feb;19(2):251-9. 
Dierenfeld AD, McEntee MF, Vogler CA, et al. Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med. 2010 Dec 1;2(60):60ra89.

Khemraj Hirani, PhD, RPh, MBA, RAC
PriZm Therapeutics

“Fast forward” is the term that Khemraj Hirani uses when he talks about PriZm Therapeutics’ approach to developing SRW101, a first-in-class treatment for MCT8 deficiency.  Also known as Allan-Herndon Dudley Syndrome (AHDS), this ultra-rare, X-linked disorder (1 in 70,000 males) results from mutations in the SLC16A2 gene, which affect the transport of thyroid hormones (TH) essential for proper brain development during prenatal and early childhood stages. While MCT8-deficiency reduces the availability of TH to the brain (also known as central nervous tissue) it paradoxically produces an excess of TH in peripheral body tissues, resulting in an increase in metabolism, affecting the nutritional state and the ability to gain weight. MCT8 deficient patients have serious neurocognitive, motor, and peripheral organ disorders from early childhood and a seriously reduced life expectancy.

An AHDS treatment approach developed with over two decades of research by Professor Samuel Refetoff, MD, and Roy Weiss, MD, Ph.D., FACP, FACE has been tested in animal models extensively. Dr. Refetoff and Weiss are determined to advance the treatment to clinical trials and make a difference in the lives of more patients. A global team of experts was assembled, and they successfully used SRW101 to treat patients under compassionate use, with very positive clinical study results.

Under the leadership of Dr. Kiran Avancha and Vivek Kopparthi (CEOs), since founding the company in 2021, the team at PriZm has received orphan drug designation in the EU and US, and rare pediatric drug designation in the US. In a recent type B meeting, PriZm reached an agreement from the FDA on primary endpoints for a single phase 3 trial with 40 subjects, based on data from compassionate use and animal models. 

Raj, a seasoned biotech executive of a few startups, including Signos Inc, RSF Bio Inc and Ambulero Inc. Ambulero It is a UM spin-off biotech with first-in-class regenerative cell and gene therapies targeting treatment for Buerger’s disease (also known as thromboangiitis obliterans), a rare vascular disease. Raj is currently associate vice chair of medicine for research and regulatory compliance at the University of Miami Miller School of Medicine, and scientific co-founder of PriZm, working closely with global drug development experts to secure funding for SRW-101 development. A technique for newborn screening developed by Dr. Iwayama using methods developed by Profs. Weiss and Refetoff’s laboratory will ensure diagnosis at birth. Further, a potential for prenatal delivery of PriZm’s lead candidate (SRW-101)’s will prevent the early damage rather than aim at repair. With the emergency IND authorized (in place), this company whose mission is “driven by knowledge, science, and compassion,” is making a difference for the ultra-rare.

Dan Lavery, PhD
Chief Scientific Officer, LouLou Foundation
Director, CDKL5 Program of Excellence, Orphan Disease Center, University of Pennsylvania Perelman School of Medicine

Dan wears multiple hats, as both the Director of the CDKL5 Program of Excellence at the Orphan Disease Center (ODC) and  the Chief Scientific Officer of the LouLou Foundation.  The ODC, a center within the University of Pennsylvania that aims to facilitate drug development for rare diseases (especially those with substantial unmet need), partners closely with the LouLou Foundation, which exists to advance research and drug development for CDKL5 Deficiency Disorder (CDD).  Dan’s dual role across organizations has allowed him to champion scientific advancement for CDD in coordination with various stakeholders including industry, academia, and patient groups alike.  Dan spearheads efforts to enable research collaborations and drives the development of effective therapeutic strategies for the treatment of CDD – a role he has assumed with a distinct passion for scientific progress and the patient community. 

Previously, Dan served as the Director of Discovery Systems Biology at CHDI, a private foundation dedicated to therapeutic development for Huntington’s disease. He has over 20 years of experience in CNS drug development, in disorders such as neuropathic pain, schizophrenia, and ALS, in both pharma and biotech.  His work has focused on using systems biology and ‘omics-scale data mining to identify and validate biological pathways and mechanisms implicated in disease pathology, and repurposing strategies to drive rapid clinical development. 

Dan trained at Johns Hopkins University, Mount Sinai School of Medicine, and the University of Geneva, Switzerland.  He is the author or co-author on over 25 primary research articles, reviews, and book chapters, and is an inventor on several patents relating to technology development and composition of matter for bioactive natural products.

Learn More:
How Come There Are So Many Databases?
Penn Medicine ODC-LouLou Foundation CDKL5 Program of Excellence
LouLou Foundation

Karen Utley, BSN, RN
President, International Foundation for CDKL5 Research
Director of Patient Advocacy, Texas Rare Alliance

Karen’s daughter, Samantha, was diagnosed with CDKL5 Deficiency Disorder in 2008, at 20 months of age. Karen took this devastating diagnosis and turned it into a passion to make a difference in the future of those facing this heartbreaking disorder. In 2009, she co-founded the International Foundation for CDKL5 Research (IFCR), and she currently serves as president. The IFCR is an organization that funds research and provides family support for patients and caregivers affected by CDKL5 Disorders. 

Learn More:
International Foundation for CDKL5 Research

Amy Williford
Senior Director of Communications, n-Lorem Foundation

The non-profit foundation,  n-Lorem, provides personalized ASOs to nano-rare (1-30) patients for free, for life, thereby exemplifying the success of the public-private partnership P3 model.  n-Lorem is the first of its kind to address the needs of nano-rare patients with a non-profit, charitable model.

Dr. Amy Williford, n-Lorem Foundation’s Senior Director of Communications, is a scientist by training.  She received her Ph.D. in Chemistry from The Scripps Research Institute, where she studied the selected binding of transcription factors to DNA.

As a communication professional, Amy has supported multiple high-profile communications programs and managed and led communications for a range of companies across the biotechnology industry.  When able, Amy also teaches chemistry at local community colleges utilizing her skills at translating complex scientific concepts and ideas into concise and easy-to-understand concepts.

Learn More:
Trends in Molecular Medicine: Meeting the Needs of Patients with Ultrarare Diseases
n-Lorem: Offering Hope and Help to Nano Rare Patients
San Diego Biotech Nonprofit Providing  Hope to Patients With Ultra Rare Diseases
n-Lorem Foundation on YouTube
Subscribe to n-Lorem’s podcast series for nano-rare patients
Hope Lies in Dreams


See other workshops and speaker lineups:
Disruptive Innovations in Clinical Trials Workshop
AI-Driven Screening Platforms and New Approaches to Therapeutics
Fostering Successful Connections Between Stakeholders to Accelerate Progress

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