What this page is

A fully static, search-engine-indexable reference (no backend API). Each card lists causal gene, inheritance, genetic test/biomarker, rough disease burden, approved products with sponsors and list prices, other treatments, and a live ClinicalTrials.gov search.

12 diseases with at least one approved therapy in this snapshot
Prices are US list (WAC) where known and change over time
For jurisdictional access pathways, see the Medical Freedom Arbitrage Map and state Right-to-Try maps

Approved only

Showing 14 diseases

Spinal Muscular Atrophy (SMA)

GeneSMN1

InheritanceAutosomal recessive

OMIM253300

Incidence~1 in 10,000 live births

Carrier frequency~1 in 40-50

US patients~10,000-25,000 living

Global patientshundreds of thousands

NotesHistorically the leading genetic cause of infant mortality.

Mechanism

AAV9 delivery of a functional SMN1 gene copy (SMN2 copy number modifies severity).

Biomarker / genetic test

Homozygous SMN1 exon 7 deletion/mutation; SMN2 copy number for prognosis.

SMN1 deletion testing (MLPA/qPCR); included in newborn screening in most US states and a growing number of countries.

Approved gene / cell-gene therapies

Zolgensma (onasemnogene abeparvovec)

AAV9-SMN1, one-time IV

Sponsor: Novartis · Approved: US 2019; EU 2020; Japan 2020

List price: ~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.

ClinicalTrials.gov →

RPE65-mediated inherited retinal dystrophy (Leber congenital amaurosis type 2 / retinitis pigmentosa)

GeneRPE65

InheritanceAutosomal recessive

OMIM204100

IncidenceRPE65 disease affects ~1 in 200,000

US patients~1,000-3,000

Global patientstens of thousands

NotesFirst FDA-approved directly administered gene therapy for an inherited disease.

Mechanism

Subretinal AAV2 delivery of RPE65 to retinal pigment epithelium.

Biomarker / genetic test

Biallelic RPE65 pathogenic variants with viable retinal cells.

Inherited retinal disease gene panel / confirmatory RPE65 sequencing; requires documented biallelic variants.

Approved gene / cell-gene therapies

Luxturna (voretigene neparvovec)

AAV2-RPE65, subretinal, per-eye

Sponsor: Spark Therapeutics (Roche) · Approved: US 2017; EU 2018

List price: ~425,000 per eye (~850,000 bilateral)

Eligibility: Confirmed biallelic RPE65, viable retinal cells

ClinicalTrials.gov →

FDA — Luxturna

Sickle Cell Disease (SCD)

GeneHBB

InheritanceAutosomal recessive

OMIM603903

Incidence~1 in 365 US Black newborns; ~300,000+ affected births/year globally

US patients~100,000

Global patients~7-8 million

NotesMajor global burden concentrated in sub-Saharan Africa and India.

Mechanism

Autologous CD34+ HSC editing — CRISPR of BCL11A enhancer to raise fetal hemoglobin (Casgevy), or lentiviral anti-sickling β-globin (Lyfgenia).

Biomarker / genetic test

Homozygous HbS (βS/βS) or compound heterozygous genotypes; hemoglobin electrophoresis.

Hemoglobin electrophoresis / HBB sequencing; newborn screening universal in the US.

Approved gene / cell-gene therapies

Casgevy (exagamglogene autotemcel, exa-cel)

CRISPR-edited autologous HSCs (ex vivo)

Sponsor: Vertex / CRISPR Therapeutics · Approved: US 2023; UK/EU 2023-2024

List price: ~2,200,000

Eligibility: Age ≥12 with recurrent vaso-occlusive crises

Lyfgenia (lovotibeglogene autotemcel)

Lentiviral β-globin gene addition (ex vivo)

Sponsor: bluebird bio · Approved: US 2023

List price: ~3,100,000

Eligibility: Age ≥12 with vaso-occlusive events

Management / repurposing candidates

Sirolimus —

Tacrolimus Anhydrous —

Abatacept —

Acalabrutinib —

Acalabrutinib Maleate —

Acebutolol —

Acebutolol Hydrochloride —

Aceclidine —

View Disease Profile ClinicalTrials.gov →

Transfusion-dependent β-thalassemia

GeneHBB

InheritanceAutosomal recessive

OMIM613985

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

NotesCarrier frequency very high in endemic regions.

Mechanism

Autologous HSC gene addition of functional β-globin (Zynteglo) or BCL11A editing to raise HbF (Casgevy).

Biomarker / genetic test

HBB pathogenic variants with transfusion dependence.

HBB sequencing; hemoglobin studies; transfusion history.

Approved gene / cell-gene therapies

Zynteglo (betibeglogene autotemcel)

Lentiviral β-globin gene addition (ex vivo)

Sponsor: bluebird bio · Approved: US 2022; (EU approval later withdrawn commercially)

List price: ~2,800,000

Eligibility: Transfusion-dependent, all genotypes

Casgevy (exa-cel)

CRISPR-edited autologous HSCs (ex vivo)

Sponsor: Vertex / CRISPR Therapeutics · Approved: US/UK/EU 2023-2024

List price: ~2,200,000

Eligibility: Age ≥12, transfusion-dependent

Management / repurposing candidates

Sirolimus —

Acetazolamide —

Amitriptyline Hydrochloride —

Amphetamine —

Bicalutamide —

Carbachol —

Ciprofloxacin —

Cladribine —

View Disease Profile ClinicalTrials.gov →

FDA — Zynteglo

Hemophilia B (Factor IX deficiency)

GeneF9

InheritanceX-linked recessive

OMIM306900

Incidence~1 in 30,000 male births

US patients~5,000-7,000

Global patients~35,000-40,000 (diagnosed)

NotesAbout 1/4 as common as hemophilia A.

Mechanism

AAV-delivered F9 (often the hyperactive Padua variant) to hepatocytes for endogenous Factor IX.

Biomarker / genetic test

Low Factor IX activity; F9 pathogenic variant.

Factor IX activity assay + F9 sequencing; AAV neutralizing-antibody screen for eligibility.

Approved gene / cell-gene therapies

Hemgenix (etranacogene dezaparvovec)

AAV5-F9 Padua, one-time IV

Sponsor: CSL Behring / uniQure · Approved: US 2022; EU 2023

List price: ~3,500,000 (one-time)

Eligibility: Adults, low AAV5 neutralizing antibodies

Management / repurposing candidates

Abciximab —

Acetazolamide —

Adalimumab —

Albutrepenonacog Alfa —

Alteplase —

Amphetamine —

Andexanet Alfa —

Anifrolumab —

View Disease Profile ClinicalTrials.gov →

FDA — Hemgenix

Hemophilia A (Factor VIII deficiency)

GeneF8

InheritanceX-linked recessive

OMIM306700

Incidence~1 in 5,000 male births

US patients~20,000-25,000

Global patients~150,000+ (diagnosed)

NotesMost common severe inherited bleeding disorder.

Mechanism

AAV-delivered B-domain-deleted F8 to hepatocytes for endogenous Factor VIII.

Biomarker / genetic test

Low Factor VIII activity; F8 pathogenic variant.

Factor VIII activity assay + F8 sequencing; AAV5 neutralizing-antibody screen.

Approved gene / cell-gene therapies

Roctavian (valoctocogene roxaparvovec)

AAV5-F8 (BDD), one-time IV

Sponsor: BioMarin · Approved: US 2023; EU 2022

List price: ~2,900,000 (one-time)

Eligibility: Adults with severe HemA, low AAV5 antibodies

Management / repurposing candidates

Abciximab —

Acetazolamide —

Adalimumab —

Albutrepenonacog Alfa —

Alteplase —

Amphetamine —

Andexanet Alfa —

Anifrolumab —

View Disease Profile ClinicalTrials.gov →

FDA — Roctavian

Duchenne Muscular Dystrophy (DMD)

GeneDMD (dystrophin)

InheritanceX-linked recessive

OMIM310200

Incidence~1 in 3,500-5,000 male births

US patients~10,000-15,000

Global patients~300,000 males

NotesMicro-dystrophin restores a partial protein, not full-length dystrophin.

Mechanism

AAV delivery of a shortened engineered 'micro-dystrophin' gene to muscle.

Biomarker / genetic test

DMD pathogenic variant; absent/near-absent dystrophin.

DMD deletion/duplication (MLPA) + sequencing; needed to confirm mutation type/amenability.

Approved gene / cell-gene therapies

Elevidys (delandistrogene moxeparvovec)

AAVrh74 micro-dystrophin, one-time IV

Sponsor: Sarepta / Roche · Approved: US 2023 (accelerated; label later expanded)

List price: ~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.

ClinicalTrials.gov →

FDA — Elevidys

Metachromatic Leukodystrophy (MLD)

GeneARSA

InheritanceAutosomal recessive

OMIM250100

Incidence~1 in 40,000-160,000

US patients~low thousands

Global patientstens of thousands

NotesBenefit depends on treating before major neurologic decline.

Mechanism

Ex vivo lentiviral ARSA gene addition to autologous HSCs (pre-symptomatic/early).

Biomarker / genetic test

Low arylsulfatase A activity; ARSA variants; elevated urinary sulfatides.

ARSA enzyme activity + gene sequencing; early/pre-symptomatic detection is critical.

Approved gene / cell-gene therapies

Lenmeldy (atidarsagene autotemcel) / Libmeldy (EU)

Lentiviral ARSA autologous HSCs (ex vivo)

Sponsor: Orchard Therapeutics · Approved: EU 2020 (Libmeldy); US 2024 (Lenmeldy)

List price: ~4,250,000 (among the highest listed)

Eligibility: Pre-/early-symptomatic late-infantile or early-juvenile

ClinicalTrials.gov →

FDA — Lenmeldy

Cerebral Adrenoleukodystrophy (CALD)

GeneABCD1

InheritanceX-linked recessive

OMIM300100

IncidenceX-ALD ~1 in 15,000-17,000 (all forms); a subset develop cerebral form

US patients~thousands (X-ALD overall)

Global patientstens of thousands (X-ALD overall)

NotesSkysona carries a boxed warning for hematologic malignancy risk.

Mechanism

Ex vivo lentiviral ABCD1 gene addition to autologous HSCs.

Biomarker / genetic test

Elevated very-long-chain fatty acids (VLCFA); ABCD1 variant; MRI lesion (Loes score).

Plasma VLCFA + ABCD1 sequencing; MRI surveillance for cerebral progression.

Approved gene / cell-gene therapies

Skysona (elivaldogene autotemcel)

Lentiviral ABCD1 autologous HSCs (ex vivo)

Sponsor: bluebird bio · Approved: US 2022; EU 2021

List price: ~3,000,000

Eligibility: Early active CALD, boys 4-17, when no matched donor

ClinicalTrials.gov →

FDA — Skysona

Aromatic L-amino Acid Decarboxylase (AADC) Deficiency

GeneDDC

InheritanceAutosomal recessive

OMIM608643

IncidenceUltra-rare; hundreds reported worldwide (higher in Taiwan/Japan)

US patients<100 known

Global patientshundreds

NotesFirst approved gene therapy delivered directly into the brain.

Mechanism

Stereotactic AAV2-hAADC delivered directly to the putamen.

Biomarker / genetic test

Low AADC activity; DDC variants; low CSF neurotransmitter metabolites.

DDC sequencing + CSF neurotransmitter metabolites + plasma AADC activity.

Approved gene / cell-gene therapies

Kebilidi (eladocagene exuparvovec) / Upstaza (EU)

AAV2-hAADC, intraputaminal

Sponsor: PTC Therapeutics · Approved: EU 2022 (Upstaza); US 2024 (Kebilidi)

List price: ~3,000,000 (region-dependent)

Eligibility: Confirmed AADC deficiency, ≥18 months

ClinicalTrials.gov →

FDA — Kebilidi

ADA-SCID (severe combined immunodeficiency due to adenosine deaminase deficiency)

GeneADA

InheritanceAutosomal recessive

OMIM102700

IncidenceADA-SCID ~1 in 200,000-1,000,000

US patients<100 (very rare)

Global patientshundreds

NotesStrimvelis is delivered at a single center in Milan, Italy.

Mechanism

Ex vivo gammaretroviral/lentiviral ADA gene addition to autologous HSCs.

Biomarker / genetic test

Absent ADA enzyme activity; ADA variants; very low T/B/NK cells.

ADA enzyme activity + gene sequencing; SCID picked up on TREC newborn screening.

Approved gene / cell-gene therapies

Strimvelis

Gammaretroviral ADA autologous CD34+ cells (ex vivo)

Sponsor: Orchard Therapeutics · Approved: EU 2016

List price: ~700,000 (EU, single-center)

Eligibility: ADA-SCID with no matched related donor

Other treatments: Enzyme replacement (PEG-ADA) and allogeneic HSCT are alternatives.

ClinicalTrials.gov →

EMA — Strimvelis

Lipoprotein Lipase Deficiency (LPLD)

GeneLPL

InheritanceAutosomal recessive

OMIM238600

Incidence~1 in 1,000,000

US patients<500

Global patients~thousands

NotesGlybera 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.

Mechanism

AAV1-LPL(S447X) intramuscular injection (historical).

Biomarker / genetic test

Severe hypertriglyceridemia; absent LPL activity; LPL variants.

LPL sequencing + post-heparin lipase activity.

Approved gene / cell-gene therapies

Glybera (alipogene tiparvovec) — WITHDRAWN

AAV1-LPL(S447X), intramuscular

Sponsor: uniQure · Approved: EU 2012 (withdrawn 2017)

List price: ~1,000,000 (historical; treated ~1 commercial patient)

Eligibility: Historical

ClinicalTrials.gov →

EMA — Glybera (withdrawn)

Cystic Fibrosis (CF)

GeneCFTR

InheritanceAutosomal recessive

OMIM219700

Incidence~1 in 2,500-3,500 in populations of European descent

US patients~40,000

Global patients~100,000+

NotesCFTR modulators (e.g., Trikafta) transformed care but do not help all genotypes — the gap gene therapy targets.

Mechanism

No gene therapy approved. Active inhaled gene/mRNA and editing programs aim to address mutations not covered by modulators.

Biomarker / genetic test

CFTR variants (e.g., F508del); sweat chloride; included in newborn screening.

CFTR variant panel / full-gene sequencing + sweat chloride test.

Approved gene / cell-gene therapies

Inhaled lentiviral, AAV, and LNP/mRNA CFTR programs are in clinical/preclinical development.

Other treatments: CFTR modulators (ivacaftor, lumacaftor, tezacaftor, elexacaftor/Trikafta) are approved small molecules, not gene therapy.

Management / repurposing candidates

Ciprofloxacin —

Acetazolamide —

Adalimumab —

Alclometasone —

Alclometasone Dipropionate —

Amcinonide —

Amphetamine —

Apigenin —

View Disease Profile ClinicalTrials.gov →

Cystic Fibrosis Foundation

Leber Hereditary Optic Neuropathy (LHON)

GeneMT-ND4 (mitochondrial)

InheritanceMitochondrial (maternal)

OMIM535000

Incidence~1 in 30,000-50,000

US patients~thousands

Global patientstens of thousands

NotesLate-stage trials (e.g., lenadogene nolparvovec) reported bilateral improvement; regulatory status still evolving.

Mechanism

Intravitreal AAV2 allotopic expression of ND4 (investigational; not yet approved).

Biomarker / genetic test

Primary mtDNA variants (m.11778G>A most common).

Mitochondrial DNA testing for the three primary LHON variants.

Approved gene / cell-gene therapies

Lenadogene nolparvovec (GS010) and related AAV2-ND4 programs are in late-stage development; no full approval as of the AS_OF date.

ClinicalTrials.gov →

ClinicalTrials.gov — LHON gene therapy