Shining the Spotlight on Rare Disease Trials With Uncommon Cures
Sep 3, 2024
This month’s episode of The Scope of Things features the latest trending news from host Deborah Borfitz, including a planned library of “nature’s drugs” targeting complex diseases, a paradoxical approach to treating cancer, how government policies can help improve equitable access to cancer trials, and the possibilities of reversing multiple sclerosis nerve damage. Marshall Summar, CEO of Uncommon Cures, and Tamanna Roshan Lal, Chief Medical Officer of Uncommon Cures, join the conversation to discuss how their organization is tackling the root causes of rare diseases trials that take too long and cost too much. They delve into the market interest behind rare disease trials and what Uncommon Cures is doing differently, as well as share the company’s international expansion plans and where they see this operationalized rare disease clinical trial paradigm in a few years.
SHOW NOTES
News Roundup
Pharmaceutical-grade HMOs
- Article in Clinical Research News
Paradoxical cancer treatment approach
Switching on the desire the exercise
- Study in Science Advances
STEP stroke platform trial
- Press release from the University of Cincinnati
Policy interventions to improve trial equity
New drug for MS
- Study in PNAS
Guests
CEO Marshall Summar, M.D., and CMO Tamanna Roshan Lal, M.D., with Uncommon Cures
- Article in Clinical Research News
Marshall L. Summar, MD, CEO, Uncommon Cures
Dr. Summar is well known for his pioneering work in caring for children diagnosed with rare diseases. He is now the Chief Executive Officer of Uncommon Cures, LLC, a rare disease clinical trials company focused on physically consolidating trials and using innovative technology to reduce time and cost. He joined Children’s National in 2010 where he still leads the Rare Disease Institute Laboratories. After 12 years, he stepped down in 2022 as Chief of the Division of Genetics & Metabolism and Founding Director of the Rare Disease Institute, the first dedicated home for the clinical care of patients with genetic rare diseases and The National Organization for Rare Disorders first designated Rare Disease Clinical Center of Excellence.
Dr. Summar’s laboratory works on both devices, diagnostics, and treatments for patients with rare genetic conditions and adapting knowledge from rare diseases to mainstream medicine. This work has led to over 170 peer-reviewed publications. His work has resulted in new drugs in FDA clinical trials for patients with sickle cell anemia, congenital heart disease and premature birth. He has over 100 international patents. His laboratory is best known for its work in the rare diseases affecting nitrogen, ammonia, and amino acid metabolism. Dr. Summar has also organized and led a number of international work groups to develop and publish standards of care and treatment for rare diseases. He is currently heading a funded project to develop a new software platform for developing and housing practical clinical protocols for rare diseases called RareCap. He has built remote/telemedicine programs to reach patients currently without genetic care access.
Dr. Summar is board-certified in Pediatrics, Clinical Genetics, and Biochemical Genetics. He served as President of the Board of Directors of the National Organization for Rare Disorders and is the past president of the Society for Inherited Metabolic Disorders. At NORD he was part of the effort that created digital registries for families (IAMRARE) and the NORD Clinical Centers of Excellence program. He serves on the Board or Advisory Committees for: The Black Women’s Health Imperative Rare Disease Diversity Coalition, PHLOW Pharmaceuticals, NIH’s National Center for Advancing Translational Sciences, Hemoshear Therapeutics, Arkansas Children’s Research Institute, ACMG Public Policy Committee, NORD’s Public Policy Committee, the Advisory Board of the Swiss URPP ITINERARE, and others. In 2022, Dr. Summar was awarded NORD's prestigious Lifetime Achievement Award for his work in Rare Disease.
Specialties: Clinical Genetics, Biochemical Genetics, Rare Disease Clinical Trials, Molecular Genetic Research, Genetic-Environmental Interactions
Tamanna Roshan Lal, MB ChB, Chief Medical Officer, Uncommon Cures
Dr. Roshan Lal is a triple board-certified physician who is the Chief Medical Officer of Uncommon Cures. Prior to joining Uncommon Cure, she worked as an Attending Metabolic Geneticist at the Rare Disease Institute (RDI), Childrens National Hospital and was an Assistant Professor of George Washington University. During her time at the RDI, she was the Director of Clinical Trials, Director of International Patient Consultation and Care Referrals, as well as the Director of Genomic Therapeutic Clinics. She completed her medical education at the University of Manchester, UK. She went on to train in multiple specialties which included Pediatrics, Obstetrics & Gynecology, General Medicine, General Surgery as well as Critical Care. She furthered her training in Pediatrics, prior to moving to the United States with her husband, a US Marine. Dr Roshan Lal completed a Pediatric Residency at Sinai Hospital, Baltimore and went on to do a Genetics fellowship at Johns Hopkins. She concurrently did research on lysosomal storage diseases at the National Institutes of Health (NIH). She served as the Chief Resident of the Genetics department at Johns Hopkins prior to completing a Medical Biochemical Genetics degree at the same institute. She has achieved numerous awards during her time as a fellow which include:
- Clinical Genetics Fellowship Award for Biochemical Genetics awarded by the American College of Medical Genetics Foundation
- Sidbury Fellowship Award for Biochemical Genetics and Margaret Neilson Fellowship Award, awarded by McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University
She is currently an MBA candidate at the Alliance Manchester Business School, UK. She has extensive experience in diagnosing and managing patients with rare diseases. Dr Roshan Lal has been a principal investigator for multiple rare disease clinical trials, as well as developed protocols for rare disease drug development studies. She has written many peer-reviewed publications, as well as book chapters on rare diseases and their management.
