Goal #3: Address health needs of populations

The FDA has approved KYGEVVI®, the first therapy for Thymidine Kinase 2 deficiency (TK2d), advancing decades of work led by Michio Hirano, MD, Lucy G. Moses Professor of Neurology; Chief, Division of Neuromuscular Medicine; Director of the MDA Clinic and the H. Houston Merritt Neuromuscular Research Center at Columbia University Irving Medical Center. The approval follows recently published study results detailing long-term clinical outcomes of deoxynucleoside therapy in TK2d.The Irving Institute’s Clinical Research Resource (CRR) supported this translational pathway by approving and providing clinical research infrastructure for two TK2d studies led by Dr. Hirano: a compassionate-use protocol and a Phase 2 open-label clinical study, which enrolled participants between 2019 and June 2025 and generated key safety and efficacy data informing the regulatory submission.The Muscular Dystrophy Association has also released a <a href="https://www.youtube.com/watch?v=7urOeht49EI" target="_blank" rel="noopener noreferrer">short video</a> highlighting the research journey, including Dr. Hirano’s reflections on the path from compassionate use to FDA approval.KYGEVVI® now represents the first approved treatment for TK2d and a major milestone for rare-disease research at Columbia.<a href="https://link.springer.com/article/10.15252/emmm.201404092" target="_blank" rel="noopener noreferrer">Read the full study here</a>.

Columbia University's Clinical and Translational Science Award

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Columbia University Health Sciences

The FDA has approved KYGEVVI®, the first therapy for Thymidine Kinase 2 deficiency (TK2d), a rare mitochondrial disease. The Irving Institute’s Clinical Research Resource (CRR) supported this translational pathway by approving and providing clinical research infrastructure for two TK2d studies led by Dr. Hirano: a compassionate-use protocol and a Phase 2 open-label clinical study, which enrolled participants between 2019 and June 2025 and generated key safety and efficacy data informing the regulatory submission.

FDA Approves First TK2d Therapy Following Columbia-Led Study

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Goal #7:  Training and career support programs for translational scientists

As a student growing up in Venezuela, Leonardo Alarcon loved biology.“I read and re-read my biology textbook during my free time,” he recalls. “It was my favorite of all the subjects.”That same intense interest persisted as he immigrated to the United States with his family, and, later, pursued an associate’s degree at Ivy Tech Community College. He wanted to explore what a career in research might look like and was “craving” real-world experience outside of the classroom.When he learned about the <a href="https://indianactsi.org/education/student/ivy-tech" target="_blank" rel="noopener noreferrer">Ivy Tech Research Scholars Program</a>, he thought, “This is perfect. I need to apply right away.”Alarcon was right: the program was exactly the opportunity he needed to launch his career in research. In the summer of 2024, he spent eight weeks in the <a href="https://medicine.iu.edu/faculty-labs/lim" target="_blank" rel="noopener noreferrer">Lim Lab at IU School of Medicine</a>, studying chronotropic incompetence (or a slower than usual heart rate during exercise) in people with chronic kidney disease. (<a href="https://indianactsi.org/wp-content/uploads/2025/12/CTSIpostersession_24_LA_FV.pdf" target="_blank" rel="noopener noreferrer">Check out his research poster.</a>) He did so well that the following spring, having transferred to IU Indianapolis to complete his bachelor’s degree, he was hired as a student worker in the same lab, where he now assists with patient recruitment.“I really appreciate that this program exists to give students at Ivy Tech the opportunity to get this experience and build careers in research,” he said.The Ivy Tech Research Scholars Program is a partnership between the Indiana Clinical and Translational Sciences Institute (CTSI) and Ivy Tech. Program participants are matched with research mentors and then spend eight weeks during the summer working with those mentors on research projects. Depending on their interests, students can explore basic research, translational research, clinical research or population research.“One of my favorite parts of this program is watching students light up when a new concept finally clicks,” said program manager Jalysa King, MA. “Seeing their excitement as they talk about what they’re learning is what this program is all about. We’re offering exposure and creating an interest in research, while fostering meaningful mentor-mentee relationships built on curiosity, growth, and shared discovery.”Alarcon was a member of the program’s first cohort in the summer of 2024. The work was incredibly stimulating, he said, but one of the most valuable things he learned in the lab was the importance of being organized, meticulous, and consistent.“You have to be aware of many things—reading papers to get background information on the topic or population of interest; reading protocols to understand how a project or research should be conducted; applying many lab techniques while working with samples; and being able to troubleshoot along the way,” he said. “You must also be open to making mistakes and able to learn from them.”<a href="https://medicine.iu.edu/faculty/48194/lim-kenneth" target="_blank" rel="noopener noreferrer">Kenneth Lim, MD</a>, who is the principal investigator of the Lim Lab, said Alarcon worked “super hard” during his summer internship.“His dedication and commitment led us to offer him a part-time position as a student worker where he helps out with patient recruitment for our clinical trials,” he said. “This provided him a unique experience where he had exposure to the spectrum of translational and clinical research.”This has been “a blessing,” Alarcon said.“When I started the summer internship, I was hoping to learn everything about what it meant to work in research. I always thought that research was just about carrying out experiments in a lab,” he reflected. “I never realized there were all of these other angles.”He’s thankful for the opportunity to see a little bit of everything, he said. These experiences will be essential as he pursues his bachelor’s degree and, eventually, medical school.“It has been an awesome year. I feel very blessed for this opportunity, and I wish others could experience the same,” he said.Good for students and good for our communities<a href="https://medicine.iu.edu/faculty/5035/allen-matthew" target="_blank" rel="noopener noreferrer">Matt Allen, PhD</a>, director of workforce development for the Indiana CTSI, said that the Ivy Tech Research Scholars Program is designed to “open doors into research” for learners at Ivy Tech.“Careers in research are challenging to truly understand without engaging in them firsthand,” he said. “We believe that attracting the immense talent of these learners into the research infrastructure represents a huge win for advancing the health of Indiana.”Applications for summer 2026 are currently being accepted. December 1 was the priority deadline, though applications will be accepted until March 1. More information is available on the <a href="https://indianactsi.org/education/student/ivy-tech">Indiana </a><a href="https://indianactsi.org/education/student/ivy-tech/" target="_blank" rel="noopener noreferrer">CTSI website.</a>

Indiana Clinical and Translational Sciences Institute

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Leo looking at screen [Indiana CTSI Ivy Tech Research Scholars Program].png

Indiana University-Purdue University at Indianapolis

The Ivy Tech Research Scholars Program, in partnership with Indiana CTSI, offers Ivy Tech students hands-on, mentored research experiences each summer. By pairing participants with dedicated scientist mentors, the program fosters curiosity, builds essential skills, and inspires the next generation of research professionals.

Ivy Tech Research Scholars Program Opens the Door to Research Careers

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Goal #5: Provide a national resource for public health needs

Designing a large-scale research study often requires creativity and a collaborative mindset. Fortunately, the all2GETHER team had both. When REDCap — the secure database commonly used by academic institutions for clinical trials — did not offer a way to use covariate-adaptive randomization algorithms (CARAs), researchers realized they would have to build <a href="https://academic.oup.com/jamiaopen/article/8/5/ooaf110/8269856?login=false" target="_blank" rel="noopener noreferrer">their own software pipeline</a>.“With CARAs, you can ensure your treatment and control arms are comparable on important baseline measures,” says <a href="https://www.feinberg.northwestern.edu/faculty-profiles/az/profile.html?xid=48571" target="_blank" rel="noopener noreferrer">Jacob Schauer, PhD</a>, assistant professor in Biostatistics in the Department of Preventive Medicine.CARAs were first proposed in the 1970s to protect against a phenomenon statisticians call “accidental bias,” in which study arms can systematically differ just by chance in randomized controlled trials (RCTs). They work by randomizing participants in a manner that reduces existing differences between study arms and increases precision of clinical trials. Despite their effectiveness, CARAs are not commonly used in RCTs for several reasons, including a lack of readily available software.Schauer is the statistician who developed the pipeline to deploy a CARA for the all2GETHER study, a couples-based intervention focused&nbsp;on reducing HIV transmission risk through management of relationships. Study participants were tested for sexually transmitted infections (STIs) at baseline, with results partly influencing which study arm they joined. STIs were one of the study’s covariates, or characteristics that are not the focus of a study but can influence outcomes.For the all2GETHER study, Schauer knew a CARA would be beneficial, but the team needed a way to automate the randomization process. That’s where IT solutions architect Marc Broxton came in.“It was really a classic approach to collaboration,” he says. Typically working on the administrative backend of REDCap, Broxton read the study documentation and discussed objectives with Schauer. Broxton explained, “REDCap sends an automated HTTP POST request with parameters in the query string. We needed something to receive the POST request and parse those parameters, so I spun up a web server.”“When people come together like this, it's one of the hallmarks of good CTSAs,” says Schauer. NUCATS is part of the Clinical and Translational Science Awards (CTSA) program that supports translational research while fostering collaborations among academic institutions that will improve the efficiency, quality, and impact of the process for improving human health.Without server automation, Schauer would have had to manually run the code for each new participant. Instead, the team was able to seamlessly randomize individuals into the study and troubleshoot any issues that arose. The study design also allowed covariates to be adjusted in real time if the arms started to become unbalanced.Using the novel software, All2Gether was able to randomize approximately 2,100 participants in the study. “We have been able to complete 6- and 12-month follow-ups and will be continuing 12-month follow-ups until early 2026,” says <a href="https://www.feinberg.northwestern.edu/faculty-profiles/az/profile.html?xid=24419" target="_blank" rel="noopener noreferrer">Michael Newcomb, PhD</a>, associate professor in Medical Social Sciences and principal investigator of the study.“The design provided a framework that didn't previously exist in REDCap at Northwestern and is pretty easy to modify for other study designs,” Schauer says.“All too often we design research methods around ‘ideal’ circumstances, but if interventions have a chance of being implemented in the community, we need technical solutions that allow us to design with future implementation in mind,” Newcomb added.In the spirit of open science, the team made the code and instructions for using it available for all in <a href="https://github.com/j3schaue/redcap_det_msb">GitHub,</a> a platform for storing and sharing code. At least two additional clinical trials teams are now using the pipeline. What started as an idea for a single study grew into a collaboration that has expanded to other researchers.“The key lesson for me is that this work is only possible through interdisciplinary collaboration, and that's the bread and butter of clinical and translational science,” Schauer says.Written by&nbsp;<a href="mailto:eva.winckler@northwestern.edu" target="_blank" rel="noopener noreferrer">Eva Winckler</a>

Northwestern University Clinical and Translational Science Institute

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Northwestern University

Researchers with NUCATS’ all2GETHER team developed a novel software solution to enable covariate-adaptive randomization in REDCap, strengthening a couples-based HIV study and inspiring broader adoption. Their collaborative approach streamlined automated participant assignment, enhancing trial precision, and has already benefited additional clinical studies across institutions.&nbsp;

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FDA Approves First TK2d Therapy Following Columbia-Led Study

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