Transforming care by leveraging Penn infrastructure to rapidly and safely deliver newly licensed genetic therapies to patients.
Clinical Implementation
Genetic and gene-targeted therapies are rapidly transforming the treatment landscape for neurologic disease. Ensuring that these complex therapies are delivered safely, responsibly, and efficiently requires coordinated expertise and robust clinical infrastructure. Leveraging the extensive clinical, research, and operational resources at the University of Pennsylvania, we bring together multidisciplinary experts to establish best practices for the clinical use of newly approved genetic therapies.
Our team works proactively to prepare for emerging treatments, enabling Penn to offer early access to innovative therapies while maintaining rigorous safety standards. Through coordinated pre-treatment evaluation, specialized patient counseling and education programs, and structured post-treatment monitoring, we strive to ensure that every patient receives the highest standard of care. This pillar also develops ethical and operational frameworks for patient selection, consent, and risk mitigation in the use of complex genetic therapies. This effort helps advance our mission to transform care for patients with genetic neurologic diseases.
Safety
Safety is our primary concern in clinical care. We go beyond what is required through rigorous pre-dose assessments and aggressive post-dose care. A “Gene Team” of Penn experts is on call at all times to manage complex issues that may arise in treated patients.
Approved Genetic Therapies Administered at Penn
This is an antisense oligonucleotide (ASO) delivered intravenously for the treatment of Duchenne muscular dystrophy (DMD) in patients with mutations amenable to exon 45 skipping. It binds to exon 45 of dystrophin pre-mRNA, inducing exon skipping during splicing and restoring the mRNA reading frame, enabling production of a truncated but partially functional dystrophin protein.
If you would like to schedule a consultation with a neuromuscular specialist, please call (215) 662-3606.
This is a small interfering RNA (siRNA) therapeutic delivered subcutaneously for the treatment of polyneuropathy caused by hereditary transthyretin-mediated amyloidosis (hATTR-PN) and cardiomyopathy of wild-type or hereditary transthyretin-mediated amyloidosis (ATTR-CM). It utilizes RNA interference to target and degrade transthyretin (TTR) mRNA in hepatocytes, leading to reduced synthesis of both mutant and wild-type TTR protein, thereby decreasing amyloid deposition.
If you would like to schedule a consultation with a neuromuscular specialist, please call (215) 662-3606.
This is a small molecule splicing modifier delivered orally for the treatment of spinal muscular atrophy (SMA). It modulates splicing of SMN2 pre-mRNA, promoting exon 7 inclusion and increasing production of full-length SMN protein.
If you would like to schedule a consultation with a neuromuscular specialist, please call (215) 662-3606.
This is an antisense oligonucleotide (ASO) delivered intravenously for the treatment of Duchenne muscular dystrophy (DMD) in patients with mutations amenable to exon 51 skipping. It binds to exon 51 of dystrophin pre-mRNA, inducing exon skipping during splicing and restoring the mRNA reading frame, enabling production of a truncated but partially functional dystrophin protein.
If you would like to schedule a consultation with a neuromuscular specialist, please call (215) 662-3606.
This is an antisense oligonucleotide (ASO) delivered intrathecally via lumbar puncture for the treatment of amyotrophic lateral sclerosis (ALS) caused by a mutation in the SOD1 gene. It binds to SOD1 mRNA, promoting its degradation and reducing production of toxic SOD1 protein.
If you would like to schedule a consultation with an ALS specialist, please call (215) 829-8593.
This is an antisense oligonucleotide (ASO) delivered intrathecally via lumbar puncture for the treatment of spinal muscular dystrophy (SMA). It modulates splicing of SMN2 pre-mRNA, promoting exon 7 inclusion and increasing production of full-length SMN protein.
If you would like to schedule a consultation with a neuromuscular specialist, please call (215) 662-3606.
This is an antisense oligonucleotide (ASO) delivered via intravenous infusion for the treatment of Duchenne muscular dystrophy (DMD) in patients amenable to exon 53 skipping. It binds to dystrophin pre-mRNA, promoting exon 53 skipping and enabling production of a truncated but functional dystrophin protein.
If you would like to schedule a consultation with a neuromuscular specialist, please call (215) 662-3606.
This is an antisense oligonucleotide (ASO) delivered via intravenous infusion for the treatment of Duchenne muscular dystrophy (DMD) in patients amenable to exon 53 skipping. It binds to dystrophin pre-mRNA, promoting exon 53 skipping and enabling production of a truncated but functional dystrophin protein.
If you would like to schedule a consultation with a neuromuscular specialist, please call (215) 662-3606.
This is a ligand-conjugated antisense oligonucleotide (ASO) for the treatment of polyneuropathy caused by hereditary transthyretin-mediated amyloidosis (hATTR-PN). It targets transthyretin (TTR) mRNA in hepatocytes, promoting RNase H-mediated degradation and reducing production of both mutant and wild-type TTR protein, thereby decreasing amyloid formation.
If you would like to schedule a consultation with a neuromuscular specialist, please call (215) 662-3606.
Approved Genetic Therapies to be Administered at Penn in the Near Future
This is an adeno-associated virus (AAV) vector-based gene replacement therapy administered intrathecally via lumbar puncture for the treatment of spinal muscular atrophy (SMA). ITVISMA is given as a one-time injection and delivers a functional copy of the SMN1 gene to motor neurons, enabling long-term expression of SMN protein and improving motor neuron survival and function in patients with SMN1 mutations.
An open information session about this therapy will be scheduled in the summer or fall of 2026.
If you would like to schedule a consultation with a neuromuscular specialist, please call (215) 662-3606.
Best Practices
Introducing new therapies to patients
Our physicians are on the cutting edge of research and are aware of new therapies prior to approval by the FDA, giving Penn the opportunity for readiness and early delivery of newly approved therapies.
Therapy counseling/education sessions
We offer unbranded education sessions for our patients on complex, newly approved therapies so that our entire population can receive the same timely, thorough information in order to help make decisions about care.
Consent requirements for more involved therapies
For therapies that involve risk, consent is required. This allows for a dedicated session for further explanation and to address individual questions that may arise surrounding care.
Ethical mitigation plan around patient eligibility
Penn may have stricter criteria for dosing certain medications than indicated by the label. This is to maximize safety for our patients and is based on our own extensive experience with dosing these novel, genetically-mediated therapies, as well as evolving knowledge in this rapidly changing space.