{ "as_of": "2026-07", "count": 14, "approved_therapy_count": 14, "disclaimer": "Reference data for research and market-mapping only — not medical advice. Disease-burden figures are rough estimates from public sources; prices are US list (WAC) and change over time; trial links are live ClinicalTrials.gov searches.", "items": [ { "id": "sma", "disease": "Spinal Muscular Atrophy (SMA)", "gene": "SMN1", "inheritance": "Autosomal recessive", "omim": "253300", "mechanism": "AAV9 delivery of a functional SMN1 gene copy (SMN2 copy number modifies severity).", "biomarker": "Homozygous SMN1 exon 7 deletion/mutation; SMN2 copy number for prognosis.", "genetic_test": "SMN1 deletion testing (MLPA/qPCR); included in newborn screening in most US states and a growing number of countries.", "burden": { "incidence": "~1 in 10,000 live births", "carrier_frequency": "~1 in 40-50", "us_patients": "~10,000-25,000 living", "global_patients": "hundreds of thousands", "notes": "Historically the leading genetic cause of infant mortality." }, "approved_therapies": [ { "name": "Zolgensma (onasemnogene abeparvovec)", "construct": "AAV9-SMN1, one-time IV", "sponsor": "Novartis", "approved": "US 2019; EU 2020; Japan 2020", "list_price_usd": "~2,100,000 (one-time)", "eligibility": "Typically <2 years; weight-based dosing" } ], "other_treatments": "Nusinersen (Spinraza, antisense, intrathecal) and risdiplam (Evrysdi, oral) are non-gene-therapy disease-modifying drugs.", "sources": [ { "title": "FDA — Zolgensma", "url": "https://www.fda.gov/vaccines-blood-biologics/zolgensma" }, { "title": "Cure SMA — About SMA", "url": "https://www.curesma.org/about-sma/" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Spinal+Muscular+Atrophy&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Spinal+Muscular+Atrophy&term=gene+therapy", "approved_count": 1, "has_approved": true, "repurpos": null }, { "id": "rpe65-lca", "disease": "RPE65-mediated inherited retinal dystrophy (Leber congenital amaurosis type 2 / retinitis pigmentosa)", "gene": "RPE65", "inheritance": "Autosomal recessive", "omim": "204100", "mechanism": "Subretinal AAV2 delivery of RPE65 to retinal pigment epithelium.", "biomarker": "Biallelic RPE65 pathogenic variants with viable retinal cells.", "genetic_test": "Inherited retinal disease gene panel / confirmatory RPE65 sequencing; requires documented biallelic variants.", "burden": { "incidence": "RPE65 disease affects ~1 in 200,000", "us_patients": "~1,000-3,000", "global_patients": "tens of thousands", "notes": "First FDA-approved directly administered gene therapy for an inherited disease." }, "approved_therapies": [ { "name": "Luxturna (voretigene neparvovec)", "construct": "AAV2-RPE65, subretinal, per-eye", "sponsor": "Spark Therapeutics (Roche)", "approved": "US 2017; EU 2018", "list_price_usd": "~425,000 per eye (~850,000 bilateral)", "eligibility": "Confirmed biallelic RPE65, viable retinal cells" } ], "sources": [ { "title": "FDA — Luxturna", "url": "https://www.fda.gov/vaccines-blood-biologics/luxturna" } ], "trials_url": "https://clinicaltrials.gov/search?cond=RPE65-mediated+inherited+retinal+dystrophy&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=RPE65-mediated+inherited+retinal+dystrophy&term=gene+therapy", "approved_count": 1, "has_approved": true, "repurpos": null }, { "id": "scd", "disease": "Sickle Cell Disease (SCD)", "gene": "HBB", "inheritance": "Autosomal recessive", "omim": "603903", "mechanism": "Autologous CD34+ HSC editing — CRISPR of BCL11A enhancer to raise fetal hemoglobin (Casgevy), or lentiviral anti-sickling β-globin (Lyfgenia).", "biomarker": "Homozygous HbS (βS/βS) or compound heterozygous genotypes; hemoglobin electrophoresis.", "genetic_test": "Hemoglobin electrophoresis / HBB sequencing; newborn screening universal in the US.", "burden": { "incidence": "~1 in 365 US Black newborns; ~300,000+ affected births/year globally", "us_patients": "~100,000", "global_patients": "~7-8 million", "notes": "Major global burden concentrated in sub-Saharan Africa and India." }, "approved_therapies": [ { "name": "Casgevy (exagamglogene autotemcel, exa-cel)", "construct": "CRISPR-edited autologous HSCs (ex vivo)", "sponsor": "Vertex / CRISPR Therapeutics", "approved": "US 2023; UK/EU 2023-2024", "list_price_usd": "~2,200,000", "eligibility": "Age ≥12 with recurrent vaso-occlusive crises" }, { "name": "Lyfgenia (lovotibeglogene autotemcel)", "construct": "Lentiviral β-globin gene addition (ex vivo)", "sponsor": "bluebird bio", "approved": "US 2023", "list_price_usd": "~3,100,000", "eligibility": "Age ≥12 with vaso-occlusive events" } ], "sources": [ { "title": "FDA — Casgevy / Lyfgenia approvals", "url": "https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapies-treat-patients-sickle-cell-disease" }, { "title": "CDC — Sickle Cell Data", "url": "https://www.cdc.gov/sickle-cell/data/" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Sickle+Cell+Disease&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Sickle+Cell+Disease&term=gene+therapy", "approved_count": 2, "has_approved": true, "repurpos": { "slug": "sickle-cell-disease", "url": "https://research.opensourcemed.info/disease-intelligence/sickle-cell-disease.html", "condition": "Sickle Cell Disease", "candidate_total": 508, "candidates": [ { "name": "Sirolimus", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": false, "score": 100, "url": "https://platform.opentargets.org/drug/CHEMBL413" }, { "name": "Tacrolimus Anhydrous", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": false, "score": 100, "url": "https://platform.opentargets.org/drug/CHEMBL269732" }, { "name": "Abatacept", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Acalabrutinib", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Acalabrutinib Maleate", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/chembl:CHEMBL4594293" }, { "name": "Acebutolol", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Acebutolol Hydrochloride", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/chembl:CHEMBL1200813" }, { "name": "Aceclidine", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null } ] } }, { "id": "beta-thal", "disease": "Transfusion-dependent β-thalassemia", "gene": "HBB", "inheritance": "Autosomal recessive", "omim": "613985", "mechanism": "Autologous HSC gene addition of functional β-globin (Zynteglo) or BCL11A editing to raise HbF (Casgevy).", "biomarker": "HBB pathogenic variants with transfusion dependence.", "genetic_test": "HBB sequencing; hemoglobin studies; transfusion history.", "burden": { "incidence": "~1 in 100,000 globally (much higher in Mediterranean, Middle East, South/SE Asia)", "us_patients": "~1,000 transfusion-dependent", "global_patients": "~hundreds of thousands transfusion-dependent", "notes": "Carrier frequency very high in endemic regions." }, "approved_therapies": [ { "name": "Zynteglo (betibeglogene autotemcel)", "construct": "Lentiviral β-globin gene addition (ex vivo)", "sponsor": "bluebird bio", "approved": "US 2022; (EU approval later withdrawn commercially)", "list_price_usd": "~2,800,000", "eligibility": "Transfusion-dependent, all genotypes" }, { "name": "Casgevy (exa-cel)", "construct": "CRISPR-edited autologous HSCs (ex vivo)", "sponsor": "Vertex / CRISPR Therapeutics", "approved": "US/UK/EU 2023-2024", "list_price_usd": "~2,200,000", "eligibility": "Age ≥12, transfusion-dependent" } ], "sources": [ { "title": "FDA — Zynteglo", "url": "https://www.fda.gov/vaccines-blood-biologics/zynteglo" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Transfusion-dependent+%CE%B2-thalassemia&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Transfusion-dependent+%CE%B2-thalassemia&term=gene+therapy", "approved_count": 2, "has_approved": true, "repurpos": { "slug": "beta-thalassemia", "url": "https://research.opensourcemed.info/disease-intelligence/beta-thalassemia.html", "condition": "Beta Thalassemia", "candidate_total": 124, "candidates": [ { "name": "Sirolimus", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": false, "score": 100, "url": "https://platform.opentargets.org/drug/CHEMBL413" }, { "name": "Acetazolamide", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL20" }, { "name": "Amitriptyline Hydrochloride", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Amphetamine", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL405" }, { "name": "Bicalutamide", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL409" }, { "name": "Carbachol", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL14" }, { "name": "Ciprofloxacin", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL8" }, { "name": "Cladribine", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null } ] } }, { "id": "hemophilia-b", "disease": "Hemophilia B (Factor IX deficiency)", "gene": "F9", "inheritance": "X-linked recessive", "omim": "306900", "mechanism": "AAV-delivered F9 (often the hyperactive Padua variant) to hepatocytes for endogenous Factor IX.", "biomarker": "Low Factor IX activity; F9 pathogenic variant.", "genetic_test": "Factor IX activity assay + F9 sequencing; AAV neutralizing-antibody screen for eligibility.", "burden": { "incidence": "~1 in 30,000 male births", "us_patients": "~5,000-7,000", "global_patients": "~35,000-40,000 (diagnosed)", "notes": "About 1/4 as common as hemophilia A." }, "approved_therapies": [ { "name": "Hemgenix (etranacogene dezaparvovec)", "construct": "AAV5-F9 Padua, one-time IV", "sponsor": "CSL Behring / uniQure", "approved": "US 2022; EU 2023", "list_price_usd": "~3,500,000 (one-time)", "eligibility": "Adults, low AAV5 neutralizing antibodies" } ], "sources": [ { "title": "FDA — Hemgenix", "url": "https://www.fda.gov/vaccines-blood-biologics/hemgenix" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Hemophilia+B&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Hemophilia+B&term=gene+therapy", "approved_count": 1, "has_approved": true, "repurpos": { "slug": "hemophilia", "url": "https://research.opensourcemed.info/disease-intelligence/hemophilia.html", "condition": "Hemophilia", "candidate_total": 181, "candidates": [ { "name": "Abciximab", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Acetazolamide", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL20" }, { "name": "Adalimumab", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Albutrepenonacog Alfa", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/chembl:CHEMBL5315076" }, { "name": "Alteplase", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Amphetamine", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL405" }, { "name": "Andexanet Alfa", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Anifrolumab", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null } ] } }, { "id": "hemophilia-a", "disease": "Hemophilia A (Factor VIII deficiency)", "gene": "F8", "inheritance": "X-linked recessive", "omim": "306700", "mechanism": "AAV-delivered B-domain-deleted F8 to hepatocytes for endogenous Factor VIII.", "biomarker": "Low Factor VIII activity; F8 pathogenic variant.", "genetic_test": "Factor VIII activity assay + F8 sequencing; AAV5 neutralizing-antibody screen.", "burden": { "incidence": "~1 in 5,000 male births", "us_patients": "~20,000-25,000", "global_patients": "~150,000+ (diagnosed)", "notes": "Most common severe inherited bleeding disorder." }, "approved_therapies": [ { "name": "Roctavian (valoctocogene roxaparvovec)", "construct": "AAV5-F8 (BDD), one-time IV", "sponsor": "BioMarin", "approved": "US 2023; EU 2022", "list_price_usd": "~2,900,000 (one-time)", "eligibility": "Adults with severe HemA, low AAV5 antibodies" } ], "sources": [ { "title": "FDA — Roctavian", "url": "https://www.fda.gov/vaccines-blood-biologics/roctavian" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Hemophilia+A&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Hemophilia+A&term=gene+therapy", "approved_count": 1, "has_approved": true, "repurpos": { "slug": "hemophilia", "url": "https://research.opensourcemed.info/disease-intelligence/hemophilia.html", "condition": "Hemophilia", "candidate_total": 181, "candidates": [ { "name": "Abciximab", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Acetazolamide", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL20" }, { "name": "Adalimumab", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Albutrepenonacog Alfa", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/chembl:CHEMBL5315076" }, { "name": "Alteplase", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Amphetamine", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL405" }, { "name": "Andexanet Alfa", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Anifrolumab", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null } ] } }, { "id": "dmd", "disease": "Duchenne Muscular Dystrophy (DMD)", "gene": "DMD (dystrophin)", "inheritance": "X-linked recessive", "omim": "310200", "mechanism": "AAV delivery of a shortened engineered 'micro-dystrophin' gene to muscle.", "biomarker": "DMD pathogenic variant; absent/near-absent dystrophin.", "genetic_test": "DMD deletion/duplication (MLPA) + sequencing; needed to confirm mutation type/amenability.", "burden": { "incidence": "~1 in 3,500-5,000 male births", "us_patients": "~10,000-15,000", "global_patients": "~300,000 males", "notes": "Micro-dystrophin restores a partial protein, not full-length dystrophin." }, "approved_therapies": [ { "name": "Elevidys (delandistrogene moxeparvovec)", "construct": "AAVrh74 micro-dystrophin, one-time IV", "sponsor": "Sarepta / Roche", "approved": "US 2023 (accelerated; label later expanded)", "list_price_usd": "~3,200,000 (one-time)", "eligibility": "Ambulatory/non-ambulatory per evolving label; confirmed DMD mutation" } ], "other_treatments": "Exon-skipping antisense drugs (eteplirsen, golodirsen, viltolarsen, casimersen) are mutation-specific, non-gene-therapy options.", "sources": [ { "title": "FDA — Elevidys", "url": "https://www.fda.gov/vaccines-blood-biologics/elevidys" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Duchenne+Muscular+Dystrophy&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Duchenne+Muscular+Dystrophy&term=gene+therapy", "approved_count": 1, "has_approved": true, "repurpos": null }, { "id": "mld", "disease": "Metachromatic Leukodystrophy (MLD)", "gene": "ARSA", "inheritance": "Autosomal recessive", "omim": "250100", "mechanism": "Ex vivo lentiviral ARSA gene addition to autologous HSCs (pre-symptomatic/early).", "biomarker": "Low arylsulfatase A activity; ARSA variants; elevated urinary sulfatides.", "genetic_test": "ARSA enzyme activity + gene sequencing; early/pre-symptomatic detection is critical.", "burden": { "incidence": "~1 in 40,000-160,000", "us_patients": "~low thousands", "global_patients": "tens of thousands", "notes": "Benefit depends on treating before major neurologic decline." }, "approved_therapies": [ { "name": "Lenmeldy (atidarsagene autotemcel) / Libmeldy (EU)", "construct": "Lentiviral ARSA autologous HSCs (ex vivo)", "sponsor": "Orchard Therapeutics", "approved": "EU 2020 (Libmeldy); US 2024 (Lenmeldy)", "list_price_usd": "~4,250,000 (among the highest listed)", "eligibility": "Pre-/early-symptomatic late-infantile or early-juvenile" } ], "sources": [ { "title": "FDA — Lenmeldy", "url": "https://www.fda.gov/vaccines-blood-biologics/lenmeldy" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Metachromatic+Leukodystrophy&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Metachromatic+Leukodystrophy&term=gene+therapy", "approved_count": 1, "has_approved": true, "repurpos": null }, { "id": "cald", "disease": "Cerebral Adrenoleukodystrophy (CALD)", "gene": "ABCD1", "inheritance": "X-linked recessive", "omim": "300100", "mechanism": "Ex vivo lentiviral ABCD1 gene addition to autologous HSCs.", "biomarker": "Elevated very-long-chain fatty acids (VLCFA); ABCD1 variant; MRI lesion (Loes score).", "genetic_test": "Plasma VLCFA + ABCD1 sequencing; MRI surveillance for cerebral progression.", "burden": { "incidence": "X-ALD ~1 in 15,000-17,000 (all forms); a subset develop cerebral form", "us_patients": "~thousands (X-ALD overall)", "global_patients": "tens of thousands (X-ALD overall)", "notes": "Skysona carries a boxed warning for hematologic malignancy risk." }, "approved_therapies": [ { "name": "Skysona (elivaldogene autotemcel)", "construct": "Lentiviral ABCD1 autologous HSCs (ex vivo)", "sponsor": "bluebird bio", "approved": "US 2022; EU 2021", "list_price_usd": "~3,000,000", "eligibility": "Early active CALD, boys 4-17, when no matched donor" } ], "sources": [ { "title": "FDA — Skysona", "url": "https://www.fda.gov/vaccines-blood-biologics/skysona" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Cerebral+Adrenoleukodystrophy&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Cerebral+Adrenoleukodystrophy&term=gene+therapy", "approved_count": 1, "has_approved": true, "repurpos": null }, { "id": "aadc", "disease": "Aromatic L-amino Acid Decarboxylase (AADC) Deficiency", "gene": "DDC", "inheritance": "Autosomal recessive", "omim": "608643", "mechanism": "Stereotactic AAV2-hAADC delivered directly to the putamen.", "biomarker": "Low AADC activity; DDC variants; low CSF neurotransmitter metabolites.", "genetic_test": "DDC sequencing + CSF neurotransmitter metabolites + plasma AADC activity.", "burden": { "incidence": "Ultra-rare; hundreds reported worldwide (higher in Taiwan/Japan)", "us_patients": "<100 known", "global_patients": "hundreds", "notes": "First approved gene therapy delivered directly into the brain." }, "approved_therapies": [ { "name": "Kebilidi (eladocagene exuparvovec) / Upstaza (EU)", "construct": "AAV2-hAADC, intraputaminal", "sponsor": "PTC Therapeutics", "approved": "EU 2022 (Upstaza); US 2024 (Kebilidi)", "list_price_usd": "~3,000,000 (region-dependent)", "eligibility": "Confirmed AADC deficiency, ≥18 months" } ], "sources": [ { "title": "FDA — Kebilidi", "url": "https://www.fda.gov/vaccines-blood-biologics/kebilidi" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Aromatic+L-amino+Acid+Decarboxylase&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Aromatic+L-amino+Acid+Decarboxylase&term=gene+therapy", "approved_count": 1, "has_approved": true, "repurpos": null }, { "id": "ada-scid", "disease": "ADA-SCID (severe combined immunodeficiency due to adenosine deaminase deficiency)", "gene": "ADA", "inheritance": "Autosomal recessive", "omim": "102700", "mechanism": "Ex vivo gammaretroviral/lentiviral ADA gene addition to autologous HSCs.", "biomarker": "Absent ADA enzyme activity; ADA variants; very low T/B/NK cells.", "genetic_test": "ADA enzyme activity + gene sequencing; SCID picked up on TREC newborn screening.", "burden": { "incidence": "ADA-SCID ~1 in 200,000-1,000,000", "us_patients": "<100 (very rare)", "global_patients": "hundreds", "notes": "Strimvelis is delivered at a single center in Milan, Italy." }, "approved_therapies": [ { "name": "Strimvelis", "construct": "Gammaretroviral ADA autologous CD34+ cells (ex vivo)", "sponsor": "Orchard Therapeutics", "approved": "EU 2016", "list_price_usd": "~700,000 (EU, single-center)", "eligibility": "ADA-SCID with no matched related donor" } ], "other_treatments": "Enzyme replacement (PEG-ADA) and allogeneic HSCT are alternatives.", "sources": [ { "title": "EMA — Strimvelis", "url": "https://www.ema.europa.eu/en/medicines/human/EPAR/strimvelis" } ], "trials_url": "https://clinicaltrials.gov/search?cond=ADA-SCID&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=ADA-SCID&term=gene+therapy", "approved_count": 1, "has_approved": true, "repurpos": null }, { "id": "lpld", "disease": "Lipoprotein Lipase Deficiency (LPLD)", "gene": "LPL", "inheritance": "Autosomal recessive", "omim": "238600", "mechanism": "AAV1-LPL(S447X) intramuscular injection (historical).", "biomarker": "Severe hypertriglyceridemia; absent LPL activity; LPL variants.", "genetic_test": "LPL sequencing + post-heparin lipase activity.", "burden": { "incidence": "~1 in 1,000,000", "us_patients": "<500", "global_patients": "~thousands", "notes": "Glybera was the first gene therapy approved in the West (EU 2012) but was withdrawn commercially in 2017 — a landmark cautionary tale on ultra-rare pricing." }, "approved_therapies": [ { "name": "Glybera (alipogene tiparvovec) — WITHDRAWN", "construct": "AAV1-LPL(S447X), intramuscular", "sponsor": "uniQure", "approved": "EU 2012 (withdrawn 2017)", "list_price_usd": "~1,000,000 (historical; treated ~1 commercial patient)", "eligibility": "Historical" } ], "sources": [ { "title": "EMA — Glybera (withdrawn)", "url": "https://www.ema.europa.eu/en/medicines/human/EPAR/glybera" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Lipoprotein+Lipase+Deficiency&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Lipoprotein+Lipase+Deficiency&term=gene+therapy", "approved_count": 1, "has_approved": true, "repurpos": null }, { "id": "cf", "disease": "Cystic Fibrosis (CF)", "gene": "CFTR", "inheritance": "Autosomal recessive", "omim": "219700", "mechanism": "No gene therapy approved. Active inhaled gene/mRNA and editing programs aim to address mutations not covered by modulators.", "biomarker": "CFTR variants (e.g., F508del); sweat chloride; included in newborn screening.", "genetic_test": "CFTR variant panel / full-gene sequencing + sweat chloride test.", "burden": { "incidence": "~1 in 2,500-3,500 in populations of European descent", "us_patients": "~40,000", "global_patients": "~100,000+", "notes": "CFTR modulators (e.g., Trikafta) transformed care but do not help all genotypes — the gap gene therapy targets." }, "approved_therapies": [], "other_treatments": "CFTR modulators (ivacaftor, lumacaftor, tezacaftor, elexacaftor/Trikafta) are approved small molecules, not gene therapy.", "pipeline_note": "Inhaled lentiviral, AAV, and LNP/mRNA CFTR programs are in clinical/preclinical development.", "sources": [ { "title": "Cystic Fibrosis Foundation", "url": "https://www.cff.org/" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Cystic+Fibrosis&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Cystic+Fibrosis&term=gene+therapy", "approved_count": 0, "has_approved": false, "repurpos": { "slug": "cystic-fibrosis", "url": "https://research.opensourcemed.info/disease-intelligence/cystic-fibrosis.html", "condition": "Cystic Fibrosis", "candidate_total": 332, "candidates": [ { "name": "Ciprofloxacin", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": false, "score": 100, "url": "https://platform.opentargets.org/drug/CHEMBL8" }, { "name": "Acetazolamide", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL20" }, { "name": "Adalimumab", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Alclometasone", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Alclometasone Dipropionate", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/chembl:CHEMBL1200989" }, { "name": "Amcinonide", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null }, { "name": "Amphetamine", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": "https://platform.opentargets.org/drug/CHEMBL405" }, { "name": "Apigenin", "drug_type": "Small molecule", "phase": "Approved", "evidence": "Strong", "repurposing": true, "score": 95, "url": null } ] } }, { "id": "lhon", "disease": "Leber Hereditary Optic Neuropathy (LHON)", "gene": "MT-ND4 (mitochondrial)", "inheritance": "Mitochondrial (maternal)", "omim": "535000", "mechanism": "Intravitreal AAV2 allotopic expression of ND4 (investigational; not yet approved).", "biomarker": "Primary mtDNA variants (m.11778G>A most common).", "genetic_test": "Mitochondrial DNA testing for the three primary LHON variants.", "burden": { "incidence": "~1 in 30,000-50,000", "us_patients": "~thousands", "global_patients": "tens of thousands", "notes": "Late-stage trials (e.g., lenadogene nolparvovec) reported bilateral improvement; regulatory status still evolving." }, "approved_therapies": [], "pipeline_note": "Lenadogene nolparvovec (GS010) and related AAV2-ND4 programs are in late-stage development; no full approval as of the AS_OF date.", "sources": [ { "title": "ClinicalTrials.gov — LHON gene therapy", "url": "https://clinicaltrials.gov/search?cond=Leber%20Hereditary%20Optic%20Neuropathy&term=gene%20therapy" } ], "trials_url": "https://clinicaltrials.gov/search?cond=Leber+Hereditary+Optic+Neuropathy&term=gene+therapy&aggFilters=status:rec", "trials_url_all": "https://clinicaltrials.gov/search?cond=Leber+Hereditary+Optic+Neuropathy&term=gene+therapy", "approved_count": 0, "has_approved": false, "repurpos": null } ] }