Saol Therapeutics and InformedDNA Partner to Offer Genetic Counseling to Patients with Rare Mitochondrial Disease

Program Discusses Access to a Pivotal Phase 3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency (DCA/PDCD trial; NCT02616484)

Saol Therapeutics, a company researching new treatments for rare diseases, is pleased to announce a partnership with InformedDNA®, the nation’s leading applied genomics solutions company, to offer genetic counseling for the families of individuals with a rare mitochondrial disease, Pyruvate Dehydrogenase Complex Deficiency (PDCD). The counseling will also review potential participation in a Phase 3 clinical trial. PDCD affects less than 300 children in the United States annually and lacks any FDA-approved treatment.

InformedDNA’s board-certified genetic counselors are highly knowledgeable about inherited metabolic disorders and can answer questions and review eligibility to enable individuals to make more informed decisions about clinical trial participation. After speaking with a genetic counselor, families interested in learning more about the clinical research study will be connected with a trial site.

This pivotal phase 3 trial administers the investigational drug dichloroacetate (DCA) to children who have a deficiency of the pyruvate dehydrogenase complex (PDC). PDC deficiency is the most common cause of congenital lactic acidosis and is frequently fatal. DCA has Orphan Product designation from the FDA for congenital lactic acidosis (CLA), including patients with PDCD. (ClinicalTrials.gov link: Trial of DCA in Pyruvate Dehydrogenase Complex Deficiency)

Some of the questions and topics addressed during the genetic counseling appointment include:

  • Discussion of the clinical features, progression, and inheritance of Pyruvate Dehydrogenase Complex Deficiency (PDCD)
  • High-level overview of the clinical trial and participation

Dr. Peter Stacpoole, Principal Investigator of the DCA/PDCD trial and Prof. of Medicine at the University of Florida, notes that “There are currently no FDA-approved treatments for patients with PDCD. This service allows them to make an informed decision about clinical trial participation, which is critical to advancing treatment options for rare diseases.”

Dave Penake, CEO of Saol Therapeutics, is pleased to partner with InformedDNA to provide this valuable service. “Individualized genetic counseling offers families the insights needed to better understand PDCD and to determine if participation in this clinical trial makes sense. Completing the trial and having a potential FDA-approved treatment for PDCD will be a huge milestone for Saol and the families that have participated in the study.”

“Like many rare genetic diseases, PDCD is a severe disease with no proven therapies. Many affected patients do not survive childhood. We are thrilled that Saol Therapeutics is investing in this rare disease, and we are passionate about leveraging InformedDNA’s highly effective virtual screening process to engage and connect appropriate patients to the clinical trial and advance therapeutic progress in this devastating disease,” said Karmen Trzupek, Director of Clinical Trial Services at InformedDNA. Healthcare providers and caregivers for children with Pyruvate Dehydrogenase Complex Deficiency (PDCD) may request a genetic counseling appointment by visiting www.InformedDNA/Saol.

About Saol Therapeutics

Saol Therapeutics (pronounced “Sail”) is a privately held, biopharmaceutical company with operations in Roswell, GA, Dublin, Ireland and Hamilton, Bermuda. Saol is focused on clinical development activity in rare diseases, with a focus on mitochondrial disorders, as well as central nervous system disorders such as spasticity and pain management. Saol is one of the collaborators on a Phase 3 trial studying the first potential treatment for pyruvate dehydrogenase complex deficiency (PDCD). More information on the clinical trial can be found at Phase 3 PDCD Trial. More information about Saol can be found at https://saolrx.com/.

About InformedDNA

InformedDNA is the country’s leading applied genomics solutions company, helping harness the full power of precision medicine. With the largest independent staff of board-certified genetics specialists in the U.S., InformedDNA ensures that health organizations have access to the highest quality, most current genomics insights to optimize clinical decisions. Our solutions, which cover evidence-based guideline development, patient experience management, and value management, have helped optimize the health benefits of more than 135 million covered lives and have navigated hundreds of thousands of people to the right treatments or clinical trials. For more information, visit www.InformedDNA.com.

Clinical Trial Contact:

Kathy Dorsey, Director of Clinical Operations, Saol Therapeutics, KDorsey@Saolrx.com

Media Contacts:

Brian Nappi, Senior Vice President Strategy, Saol Therapeutics, bnappi@saolrx.com

Megan Smith, MERGE for InformedDNA, msmith@mergeworld.com, 404-408-3379

SOURCE Saol Therapeutics

By Maria Thacker Goethe August 1, 2025
As Washington heads into August recess, Georgia Life Sciences is counting down the days to the 2025 Georgia Life Sciences Summit , taking place August 26–27 in Sandy Springs . With just one month to go, this pivotal gathering will bring together innovators, investors, policymakers, and ecosystem leaders at a time when the national policy landscape is shifting rapidly—and not always in our favor. In just the past week, we’ve seen: A short-lived but deeply disruptive pause in NIH funding : The White House Office of Management and Budget (OMB) temporarily halted the issuance of NIH research grants, contracts, and training awards—impacting institutions nationwide, including here in Georgia. After significant backlash from Congress, research leaders, and advocacy groups, the administration quickly reversed course and released the funds. However, this episode underscores the growing unpredictability of federal research funding—one of the lifelines for our academic and startup ecosystem. The return of pharmaceutical tariffs : The administration announced a 15% tariff on European pharmaceutical imports , though it will not take effect until a national security review is completed. While far lower than the previously floated 200% rate, this move still poses a concern for supply chains and U.S. companies relying on EU-based manufacturing. Escalating pressure on drug pricing : President Trump has now issued direct letters to CEOs of 17 major pharmaceutical companies demanding implementation of Most Favored Nation (MFN) pricing within 60 days. The directive includes MFN pricing for all existing Medicaid drugs, future Medicare and commercial launches, and even repatriation of foreign revenues. While regulatory specifics remain vague, the message is clear: the administration is increasing its pressure on pricing reform—and that could have broad implications for biotech innovation, particularly among smaller companies. At the same time, a new BIO report shows that early-stage biotech funding continues to contract. Series A investment remains flat, IPOs are sluggish, and Q2 startup funding dropped to just $900 million—down from $2.6 billion in Q1. Layoffs across the sector have surged. This paints a sobering picture for many companies in Georgia and beyond. In this environment, Georgia Life Sciences remains committed to elevating our state’s voice, regionally and nationally . We continue to advocate for stable federal funding, smart policies, and the resources innovators need to survive and thrive. The Georgia Life Sciences Summit will be a platform to do just that, demonstrating the resilience of our ecosystem, celebrating homegrown successes, and shaping the future of health innovation in Georgia. I hope to see you there.
By Maria Thacker Goethe July 28, 2025
By: Clary Estes “Small companies are the lifeblood of the industry and a lot of what they do, and what they’re experiencing, greatly affects the industry as a whole,” said Chad Wessel, Director of Industry Analysis at the Biotechnology Innovation Organization (BIO). He spoke with Bio.News in an interview about BIO’s 2025 report, “ The State of Emerging Biotech Companies: Investment, Deal, and Pipeline Trends ,” focused on the biotech industry from the early-stage perspective. As researchers found, the current landscape is challenging, but there are still opportunities. “In the last couple years, we’ve had a little bit of a contraction of the industry. During COVID, we kind of had this sugar rush for the industry,” said Wessel. “A lot of companies were being created. A lot of money was being thrown out there. A lot more companies were being funded. And in the last couple of years, there has been a little bit more of a correction, and we’re seeing funding levels going down to what we’ve seen prior to COVID.” “But when you add on other challenges, like the political landscape and everything, it is leaning towards a very challenging environment for a lot of companies,” he continued. Bearish venture capital “In venture capital, yes, you have a lot of money, but it’s going to fewer companies at higher average amounts,” explained Wessel. “It’s creating this competitive haves and have-nots type marketplace or environment. So it just makes it a lot more competitive and more challenging to raise funds.” Instead of finding new opportunities, venture capitalists are investing more in companies they are already working with. As the BIO report found, the amount of new series A-1 investment rounds into biopharma remained flat between 2023 and 2024, while the number of U.S. companies receiving their first series A-1 tranche went from 102 to 100. This is in comparison to 181 in 2021, reflecting the COVID influx to emerging biotechs. Comparatively, as the BIO report found, the average amount for A-1 transactions in the U.S. saw a remarkable increase of 700% in the last 15 years, with the average amount raised sitting at $60 million in 2024. The rest of the world stayed relatively steady in comparison to the U.S.’s persistent growth. And with the more bearish tendencies of investors, Wessel and team observed an interesting trend. “2024 was the first year that clinical programs actually raised more venture dollars than pre-clinical, which hasn’t happened in a while,” said Wessel. “I think the last time that happened was in 2018. This ties into some of the information that we’ve heard anecdotally, which is that a lot of VC firms are focusing on the companies that they currently have in their portfolio, rather than adding new companies.” Licensing and deals dip It is not too surprising, then, that as investors shore up what they already have in the pipelines, the R&D pipeline and licensing have slowed somewhat. As the BIO report observed, long-term growth in the R&D pipeline continues with an overall growth of 145% since 2010. Yet, the 2024 expansion rate (4.6%) subsided slightly, trailing the 5-year average of 6.7%. “The growth has slowed on new programs, and more of those programs are being licensed with larger companies,” explained Wessel. “There are fewer options for big companies to backfill their pipeline with products because a lot of them are already out.” The data also shows a notable slowing of the R&D typically done by large biopharma companies. “The areas that are not licensed out as much are the ones with some of the higher patient populations and subsequently the ones that are not being run by small companies,” said Wessel. “These are areas like endocrine and cardiovascular diseases, which are areas where there are a lot of things like type 2 diabetes, psoriasis , high blood pressure, etc. Those all have a lot of burden on the healthcare sector or the patient population, and those aren’t really being worked on that much by smaller companies.” Comparatively – and also not surprisingly – oncology has stayed at the top of the clinical pipeline, along with neurology and infectious disease. “Same thing with licensing,” said Wessel. “While there are deals that are still happening, the upfront amount is lower currently than it has been in years past, and most of the value is tied up into milestone payments, which may or may not happen.” This is also being felt when it comes to new companies going public, which has been an oft-discussed challenge in the biotech industry for the last few years. “The IPO market has still been challenging,” Wessel says. “We went from having 40 companies a year going public, down to 15 in 2023, and now we’re back up in 2025, but it’s still down from the pre-COVID era timeframe.” Biopharma layoffs Another notable characteristic of this year’s biopharma landscape has been uptick in layoffs. “Sometimes it’s just the nature of the economy. But the amount that we’ve seen in the last few years is quite a bit higher,” said Wessel. “To counter that, we don’t really have a way of measuring job creation, but we do know it’s happening. We just are unable to put a value on that.” The BIO report found that layoff announcements ticked up to 65 during Q1 of 2025. While two points lower than Q1 of the previous year, this still marks a jump from 2024’s Q2, Q3, and Q4, which saw the number of layoff announcements at 41, 54, and 46, respectively. All in all, Wessel noted, the biotech industry is still in a bit of a holding period when it comes to trying to navigate the coming months. “It’s too early to be able to say much about the coming years for the industry based on these numbers,” he said. “It takes a little time for reality to kind of catch up for multiple reasons. But what I can say is that we do know that companies are reducing their pipelines. We do know that companies are laying off individuals. We do know that companies are having a challenge of raising funds and continue doing their best to try to maintain operations as long as they can until they can get funds.” “We know the challenge is out there, but we’re going to have to kind of wait and see a little bit on the data side of things to understand how everything is going to catch up going forward.” Source: https://bio.news/bioeconomy/bio-2025-state-of-emerging-biotechs-report-market-trends/?mkt_tok=NDkwLUVIWi05OTkAAAGb7m5php-rTOf0a_GTaj5pj7Zl-HlpVM25WtyVvCYudM82a9GKjoazUg9sqU66hlAbhqbEuYvcX3C4EqfBG7Q
By Maria Thacker Goethe July 26, 2025
Pioneer Institute has released updated #340B state fact sheets for 2025
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