June 2025
Providing timely updates for the patient advocate community!
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In This Issue:
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Catch up on patient perspcetives shared at the Annual Meeting – including baby KJ’s story!
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Bespoke Gene Therapy Consortium releases regulatory playbook
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ASGCT joins FDA leaders and advocates during the CGT roundtable
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Latest Community Quick Take explores the use of biomarkers
Events + Engagements
⭐ Highlights from ASGCT's 28th Annual Meeting
Read our latest blog to catch up on the standout moments from the 28th Annual Meeting in New Orleans, where 7,000 attendees explored the latest in cell and gene therapy (CGT) research, regulations and policy proposals. The week was full of powerful connections and new advancements, including the debut of the first ever custom CRISPR gene editing treatment. Highlights included the patient advocate meetup, dynamic panel discussion on the business of advocacy for rare foundations, and the 40 patient advocate group (PAG) leaders representing a range of diseases who joined the Patient Advocate Connection Lunch.
Drs. Rebecca Ahrens-Nicklas and Kiran Musunuru announced the treatment of a patient with a custom CRISPR gene-editing therapy, to an infant known as baby KJ. In only six months, a collaborative team from CHOP and Penn Medicine went from concept to clinic, with early results showing promising signs of efficacy. The treatment used involved base editing, a new form of gene editing that replaces a single DNA letter without breaking the DNA strand. Stay tuned for an updated gene editing unit this fall diving deeper into this approach.
Catch up on this news and other highlights with on-demand access for registered attendees until July 18, and listen to our podcast recording with Dr. Kiran Musunuru.
📌 Register for the 2025 Policy Summit
The Policy Summit will be held Sept. 25-26 at the Washington Marriott Georgetown in Washington, D.C.! The 2025 Policy Summit will dive into regulatory policy developments; clinical access bottlenecks; European payment systems for CGTs; and CMC harmonization efforts. Keep an eye on this newsletter to get updates on session topics, confirmed speakers, and networking opportunities.
📣 Call for Perspectives on NIH Pediatric Research
The National Academies’ Committee on Strategies to Enhance Pediatric Health Research is seeking input from both patients and researchers to inform their work. Share your feedback to help shape future priorities and improve pediatric research infrastructure. Pediatric health researchers can submit their responses by July 1. Patients, families, and caregivers are invited to share their experiences by July 13.
💻 Join a Rare Disease Clinical Trial Controls Workshop
Join Duke-Margolis and the FDA Rare Disease Innovation Hub virtually or in person on September 3 for a public workshop exploring clinical trial controls in rare disease research. The workshop will cover key considerations for selecting controls in rare disease trials, explore innovative control options, and discuss how these approaches can support regulatory decision-making.
🔬 Attend RARE Drug Development Symposium
Register for the Global Genes 2025 RARE Drug Development Symposium September 3-4 in Boston, hosted in partnership with Boston Children’s Hospital and the Termeer Foundation. Whether you’re initiating research efforts or looking to refine your strategy, this symposium offers practical insights to accelerate progress in research strategies and activities.
🧑🧒🧒 Parent Perspectives: Gain Insights into Medical Decision-Making
Join the Courageous Parent Network on June 25 to learn about making decisions about medical complexities while balancing risks, benefits, and their child’s goals of care. A powerful panel of experienced parents will share personal insights from their journeys.
‼️ Register for Aug. 1 Patient-focused Drug Development Meeting
Join Cure LBSL for a powerful virtual externally-led patient focused drug development (EL-PFDD) meeting on Leukoencephalopathy (LBSL). LBSL is a rare, progressive neurological disorder caused by mutations in the DARS2 gene. This hybrid event will engage FDA leaders, patients, and families affected by LBSL to help provide valuable insights to regulators, researchers and drug developers.
Resource Hub
🧬 New Community Quick Take Explores the Use of Biomarkers
Watch our latest Community Quick Take featuring Dr. Rebecca Ahrens-Nicklas breaking down how biomarkers are chosen for rare disease CGT treatments—and why advocacy groups play a key role in shaping these decisions. This 15-minute video shares information on when biomarkers matter and how they can help therapies move forward.
🎤 ASGCT Leadership Joins CBER Roundtable on CGTs
FDA gathered academic leaders and patient advocates for a Cell & Gene Therapy Roundtable on June 5. FDA Commissioner Dr. Martin Makary and CBER Director Dr. Vinayak Prasad hosted a wide-ranging discussion on accelerating safe, affordable access to CGTs. ASGCT President Dr. Terence Flotte spotlighted therapies that struggle to advance on the traditional commercial pathway and urged FDA to preserve the Rare Pediatric Disease Priority Review Voucher (PRV). ASGCT’s Immediate Past-President Dr. Paula Cannon traced the field’s evolution from bone-marrow transplantation to bespoke CRISPR therapies like baby KJ’s. Throughout the meeting, panelists stressed faster, patient-centered review timelines – calling for streamlined early-phase requirement, adaptive “n-of-1" trial frameworks, and robust post-approval monitoring so promising treatments stay available while long-term data mature. At the end of the roundtable, leaders from other federal health agencies pledged coordinated action to address the challenges raised by roundtable participants. Check out ASGCT’s blog for a full event summary!
♥️ Learn from New Resources for Rare Disease Advocates
Check out the Next Generation Drug Development Resources and Medical Gaslighting guides released as part of Global Genes Quick Guide series. They aim to empower rare individuals and equip patient advocacy organizations with critical capacity building resources to better serve their communities.
🗣️ Thank You, Malan Syndrome Foundation and Phelan-McDermid Syndrome Foundation!
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ASGCT Speaker Bureau member Dr. Nicolas Abreu presented to the Malan Syndrome Foundation community on April 30 and shared valuable insights on natural history studies, outcome measure development, data sharing, and the critical role of patient input in advancing rare disease research.
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ASGCT also teamed up with the Phelan-McDermid Syndrome Foundation on June 3 for a Gene Therapy 101 session featuring ASGCT Board Member Dr. Kimberly Goodspeed. She unpacked the science behind gene therapy, breaking down treatment types like ASOs and AAV-based therapies.
If you’re interested in having a member of the Bureau speak to your patient community on gene therapy research and clinical trial topics, please inquire with Senior Patient Outreach Manager Ali Kujawski at akujawski@asgct.org.
🎙️ Society Comments on Use of Real-World Data Sources for CGT
ASGCT shared feedback with the FDA on the Exploration of Health Level Seven Fast Healthcare Interoperability Resources (FHIR) for Use in Study Data Created From Real-World Data Sources, which included a look at the comprehensive evidence approach that should be considered for data related to CGT. ASGCT highlighted the importance of using a broad range of evidence, including real-world data in addition to biomarkers, and natural history—to support gene and cell therapy (CGT) development, especially when traditional trials aren’t ethical or feasible.
🆕 Listen to Drs. Flotte and June on The Molecular Therapy Podcast
Check out ASGCT’s latest podcast featuring Drs. Terry Flotte and Carl June, hosted by Editor-in-Chief of Molecular Therapy Dr. Joseph Glorioso. They discuss the growth of the CGT field and the evolution of CAR T-cell therapy in honor of Molecular Therapy’s 25th anniversary.
📖 Bespoke Gene Therapy Consortium Releases NEW Regulatory Playbook
The Consortium (BGTC) hosted their annual meeting in conjunction with the ASGCT Annual Meeting in May. At that time they launched a new regulatory playbook, offering step-by-step insight into FDA regulatory expectations for AAV gene therapy development. The playbook includes tips for FDA meetings, clinical trial design, rare disease patient engagement, IND maintenance, and more.
🤗 Learn from Our Free Batten Disease Resources
June 9 marked International Batten Disease Awareness Day, a time to honor the resilience of families affected by this rare neurodegenerative disorder and to spotlight recent advancements in treatment. Gene therapy research continues to progress, with clinical trials underway for various forms of the condition each linked to a different faulty ceroid lipofuscinosis (CLN) gene.
Breakthrough Moments
✔️ Recent CGT Approvals and Designations
Abeona Therapeutics announced FDA approval of ZEVASKYN™ (prademagene zamikeracel) or Pz cel, the first and only autologous, gene-modified cell therapy for treating wounds in patients with recessive dystrophic epidermolysis bullosa (RDEB), a severe genetic skin disorder with no cure.
FDA has also granted Platform Technology Designation to Sarepta Therapeutics’ rAAVrh74 viral vector used in its investigational gene therapy for limb-girdle muscular dystrophy types LGMD2E/LGMDR4. This milestone recognizes the vector’s reproducibility and potential across multiple programs.
🔜 Approval Watchlist: Upcoming FDA Decisions
Ultragenyx’s UX11 is an AAV gene therapy treatment for patients with Sanfilippo syndrome type A (MPS IIIA). FDA granted UX111 Priority review and is expected to make a decision on its approval by Aug. 18.
🏛️ Policy Updates
Medicaid Cuts Spark Concern for Rare Communities - Late in May, the House passed their version (H.R.1) of the FY25 reconciliation package. Reconciliation is a process that allows legislation to be passed with a simple majority, bypassing the filibuster, as long as it impacts spending, taxation, or the federal deficit. On June 16, the Senate Finance Committee released its version of the bill, which includes even deeper Medicaid cuts than the House proposal.
Critically, both House and Senate versions would impose work requirements and shorten enrollment periods - provisions the Congressional Budget Office estimates could leave 10.9 million people uninsured. The Senate bill also takes a more aggressive approach to freezing or reducing state provider tax rates, which states use to increase their federal reimbursement for Medicaid services. These proposed changes are especially concerning for rare and pediatric disease communities, including patients receiving cell and gene therapies, who rely on stable Medicaid coverage to access complex, ongoing care.
FDA Encouraged to Embrace Innovation in Clinical Trials - In its 2025 report, the US House Appropriations Committee urged FDA to take bold steps in modernizing how it evaluates cell and gene therapies and highlighted the need for innovative trial designs, meaningful clinical endpoints, and stronger collaboration with patients and experts. It specifically calls on the FDA to expand the use of accelerated approval pathways, especially for conditions with serious unmet needs, and urges greater transparency around clinical holds and more proactive, streamlined engagement with therapy developers to ensure patients can access treatments faster and more efficiently.
New FDA Commissioner’s National Priority Voucher (CNPV) Program Launched - A limited number of non-transferrable vouchers will be piloted this year to speed up drug development aligned with U.S. health priorities. Unlike traditional Priority Review Vouchers (PRVs), these will be granted during development, not after approval, and must be used within two years. Eligible programs need to address pressing national health needs like innovation, unmet public health challenges, or domestic manufacturing. Vouchers offer a 1–2-month review instead of the usual 10-12 months, rolling submission benefits, and enhanced FDA engagement.
🗞️ Rare in the News
ADA SCID - Italy’s Telethon Foundation has become the first charity to take over and manage a gene therapy after a company stopped production due to high costs and limited profitability. Telethon aims to build a sustainable nonprofit model to keep life-saving gene therapies available for rare diseases.
ATTR Amyloidosis* - Intellia reported their CRISPR-based therapy led to a significant and maintained drop in TTR levels in patients with transthyretin amyloidosis after a single dose. The therapy targets the TTR gene using CRISPR-Cas9 delivered via lipid nanoparticles. One case of severe liver toxicity was reported in a participant who received the therapy.
Autoimmune Disorders - Cabaletta Bio reported their CAR-T therapy led to significant clinical improvements, and in some cases remission, in three autoimmune diseases: myositis, systemic lupus erythematosus, and systemic sclerosis. The company is now preparing pivotal trials aimed at securing FDA approval.
Danon Disease - A patient in the Rocket Pharmaceuticals Phase 2 trial of RP-A501, a gene therapy being developed for Danon disease, experienced a serious adverse event and passed away due to complications from an acute infection. The company has paused dosing, and FDA placed the trial on clinical hold.
Duchenne Muscular Dystrophy (DMD)* - A second teenager has passed away from liver failure after receiving Sarepta Therapeutics’ gene therapy, Elevidys, for DMD. The patient, like others treated while already non-ambulatory, suffered severe liver complications following the infusion. The company has paused dosing in this population.
Heart Disease - CRISPR Therapeutics reported early results from its first in vivo gene editing trial for heart disease. The therapy targets the ANGPTL3 gene and reportedly led to an 82% reduction in triglycerides and a 65% drop in LDL cholesterol in one patient. This treatment uses lipid nanoparticles to deliver CRISPR directly to the liver.
Inherited Retinal Disease* - Beacon Therapeutics reported early visual improvements in a Phase 2 gene therapy trial for X-linked retinitis pigmentosa (XLRP). The therapy delivers a working RPGR gene to restore rod and cone function. A pivotal Phase 2/3 trial is now recruiting.
Rett Syndrome - Taysha Therapeutics reported positive clinical data from their Phase 1/2 clinical trial of TSHA-102, a gene therapy for Rett Syndrome. FDA advised that the company could use a single-arm, open-label pivotal trial using developmental milestones as the primary endpoint. Importantly, each patient will serve as their own control due to the significant data gathered from the natural history study of this community over the last 20 years.
*Learn more
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