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Gene therapy

Gene therapy is a medical technology for treating or preventing disease by correcting the underlying genetic problem. Gene therapy techniques allow the treatment of genetic-based disorders by altering the genes that cause diseases

5 Facts you should know



Human gene therapy seeks to modify or manipulate the expression of a gene or to alter the biological properties of living cells for therapeutic use



Somatic gene therapy represents mainstream clinical research, in which a gene (therapeutic DNA) is used to treat disease



The first therapeutic use of gene transfer was performed by French Anderson in a trial starting in September 1990



In 2017, Spark Therapeutics' Luxturna for RPE65 mutation-induced blindness was the first therapeutic gene therapy approved in the United States



To date, most of the successful approaches in gene therapy utilize adeno-associated viruses (AAVs)

Gene therapy is also known as...

Gene therapy is also known as:

  • Gene transfer therapy
  • Gene replacement therapy
  • Gene editing
  • Gene inhibition

What’s your Rare IQ?

Which type of viral vector is the most commonly used gene therapy delivery system in current clinical trials?

Top Clinical Trials

DiseaseDrug/TherapyDevelopment PhaseCompany/SponsorClinical TrialsMore Information
Duchenne Muscular DystrophyPF-06939926Phase 3PfizerStudy to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular DystrophyMore Info
Dystrophic Epidermolysis BullosaBeremagene GeperpavecPhase 3Krystal BiotechA Long-term Treatment With B-VEC for Dystrophic Epidermolysis BullosaMore Info
Glycogen storage disease (Type 1a)DTX401Phase 3UltragenyxA Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)More Info
Hemophilia Agiroctocogene fitelparvovecPhase 3PfizerStudy to Evaluate the Efficacy and Safety of PF-07055480 / Giroctocogene Fitelparvovec Gene Therapy in Moderately Severe to Severe Hemophilia A Adults (AFFINE)More Info
Hemophilia Avaloctocogene RoxaparvovecPhase 3BioMarinSingle-Arm Study To Evaluate The Efficacy and Safety of Valoctocogene Roxaparvovec in Hemophilia A Patients (BMN 270-301) (BMN 270-301More Info
Hemophilia BPF-06838435Phase 3PfizerA Study to Evaluate the Efficacy and Safety of Factor IX Gene Therapy With PF-06838435 in Adult Males With Moderately Severe to Severe Hemophilia B (BENEGENE-2)More Info
Hunter syndrome (MPS II)RGX-121Phase 3RegenexbioCAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)More Info
Mucopolysaccharidosis Type IIIA (MPS IIIA)LYS-SAF302Phase2/3LysogeneStudy of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA) (AAVance)More Info
Ornithine Transcarbamylase (OTC) DeficiencyDTX301Phase 3UltragenyxClinical Study of DTX301 AAV- Mediated Gene Transfer for Ornithine Transcarbamylase(OTC) DeficiencyMore Info
Retinitis PigmentosaAAV5-RPGR 4e11Phase 3MeiraGTx UK IIFollow-up Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR GeneMore Info
Severe combined immunodeficiency syndromeBlood cells transduced with the G2SCID vectorPhase 1/2Boston Children's HospitalPhase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan ConditioningMore Info
Sickle cell diseaselovotibeglogene autotemcelPhase 3bluebird bioA Study Evaluating Gene Therapy With BB305 Lentiviral Vector in Sickle Cell DiseaseMore Info
Spinal muscular atrophyOAV-101Phase 3NovartisSafety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) (SMART)More Info
Wet AMDRGX-314Phase 3RegenexbioPivotal 2 Study of RGX-314 Gene Therapy in Participants With nAMD (ASCENT)More Info
Wiskott-Aldrich SyndromeOTL-103Phase 3Orchard TherapeuticsA Clinical Study to Evaluate the Use of a Cryopreserved Formulation of OTL-103 in Subjects With Wiskott-Aldrich SyndromeMore Info

Current Approved Treatments

ProductGeneric NameYear ApprovedIndications
Breyanzilisocabtagenemaraleucel2021Diffuse large B-cell lymphoma; follicular lymphoma
tisagenlecleucel-t2017Acute lymphocytic leukemia; diffuse large B-cell lymphoma
voretigeneneparvovec2017Leber’s congenital amaurosis
axicabtageneciloleucel2017Diffuse large B-cell lymphoma; non-Hodgkin’s lymphoma; follicular lymphoma
onasemnogene abeparvovec2019Spinal muscular atrophy
betibeglogeneautotemcel2022Transfusion-dependent beta thalassemia
brexucabtageneautoleucel2020Mantel cell lymphoma; acute lymphocytic leukemia
idecabtagenevicleucel2021Multiple myeloma
Carvykticiltacabtageneautoleucel2022Multiple myeloma