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Inherited retinal dystrophy (RPE65): 국가별 선택지

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선택지 정리됨희귀·유전 질환최종 확인 2026.06

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임상시험 검색어

Inherited retinal dystrophy (RPE65) clinical trial

국가별 선택지

국가별 치료 선택지

공식 규제·평가 기관 출처를 바탕으로 한 국가별 승인·접근 상태입니다. 무엇이 어디에 존재하는지를 보여줄 뿐, 추천이 아닙니다.

United States

  • voretigene neparvovec-rzyl (Luxturna)[1]FDA-approvedconfirmed biallelic RPE65 mutations; viable retinal cells required in label/source context; One-time subretinal gene therapy for each eligible eye in confirmed biallelic RPE65 mutation-associated retinal dystrophy, if viable retinal cells are present. · Genetic confirmation and sufficient viable retinal cells are central source caveats. The label includes surgical-suite administration, corticosteroid regimen, intraocular-injection risks, retinal abnormalities, intraocular pressure, air-bubble precautions, cataract, and pediatric-use caveats. This entry does not imply eligibility or availability at every eye center. Confidence/conflicts: High for U.S. label-backed status; no conflicts identified.
  • voretigene neparvovec-rzyl (Luxturna)[1]FDA-approvedconfirmed biallelic RPE65 mutations; viable retinal cells required in label/source context; One-time subretinal gene therapy for each eligible eye in confirmed biallelic RPE65 mutation-associated retinal dystrophy, if viable retinal cells are present. · Genetic confirmation and sufficient viable retinal cells are central source caveats. The label includes surgical-suite administration, corticosteroid regimen, intraocular-injection risks, retinal abnormalities, intraocular pressure, air-bubble precautions, cataract, and pediatric-use caveats. This entry does not imply eligibility or availability at every eye center. Confidence/conflicts: High for U.S. label-backed status; no conflicts identified.

European Union

  • voretigene neparvovec (Luxturna)[2]EMA authorisedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; Gene therapy for RPE65-mediated inherited retinal dystrophy with vision loss and viable retinal cells. · EMA authorization does not by itself establish reimbursement in each EU member state. NICE guidance is UK/England health-technology guidance and lists its next review as 2022, so current access details should be refreshed with local commissioning sources. Confidence/conflicts: High for EMA/NICE scope; medium for current UK operational access because refreshed commissioning details were not fetched this cycle.
  • voretigene neparvovec (Luxturna)[2]EMA authorisedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; Gene therapy for RPE65-mediated inherited retinal dystrophy with vision loss and viable retinal cells. · EMA authorization does not by itself establish reimbursement in each EU member state. NICE guidance is UK/England health-technology guidance and lists its next review as 2022, so current access details should be refreshed with local commissioning sources. Confidence/conflicts: High for EMA/NICE scope; medium for current UK operational access because refreshed commissioning details were not fetched this cycle.
  • voretigene neparvovec (Luxturna)[3]EMA authorisedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; Reimbursement opinion for Luxturna in the stated RPE65-mediated inherited retinal dystrophy population. · HAS favourable reimbursement opinion does not by itself identify every treating center, individual eligibility outcome, or administrative access step. Long-term follow-up and chorioretinal atrophy uncertainty are noted in the HAS summary. Confidence/conflicts: High for France reimbursement-opinion status; no conflict identified.
  • voretigene neparvovec (Luxturna)[3]EMA authorisedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; Reimbursement opinion for Luxturna in the stated RPE65-mediated inherited retinal dystrophy population. · HAS favourable reimbursement opinion does not by itself identify every treating center, individual eligibility outcome, or administrative access step. Long-term follow-up and chorioretinal atrophy uncertainty are noted in the HAS summary. Confidence/conflicts: High for France reimbursement-opinion status; no conflict identified.
  • voretigene neparvovec (Luxturna)[4]Approvedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; German benefit assessment/quality-assured use context for Luxturna in the approved RPE65-mediated inherited retinal dystrophy population. · The English G-BA documents are courtesy translations and the German versions are legally binding. Earlier resolution validity was time-limited; this entry records the fetched G-BA benefit-assessment and resolution context, not a fresh 2026 reimbursement contract. Confidence/conflicts: Medium-high for German benefit-assessment context; medium for current access because the fetched English resolution is time-limited and legally non-binding.
  • voretigene neparvovec (Luxturna)[4]Approvedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; German benefit assessment/quality-assured use context for Luxturna in the approved RPE65-mediated inherited retinal dystrophy population. · The English G-BA documents are courtesy translations and the German versions are legally binding. Earlier resolution validity was time-limited; this entry records the fetched G-BA benefit-assessment and resolution context, not a fresh 2026 reimbursement contract. Confidence/conflicts: Medium-high for German benefit-assessment context; medium for current access because the fetched English resolution is time-limited and legally non-binding.

Japan

  • voretigene neparvovec (Luxturna Injection)[5]PMDA-approved (Japan)biallelic RPE65 mutation confirmed by genetic testing; sufficient viable retinal cells per PMDA review; Gene therapy for biallelic RPE65 mutation-associated inherited retinal dystrophy; Japan review includes LCA/RP phenotype discussion but supports gene-based indication wording. · PMDA review notes limited information for some phenotype subgroups and emphasizes gene-based selection plus retinal viability. Reimbursement and treatment-center logistics were not fully verified in this pass. Confidence/conflicts: High for PMDA approval/review status; no conflict identified.
  • voretigene neparvovec (Luxturna Injection)[5]PMDA-approved (Japan)biallelic RPE65 mutation confirmed by genetic testing; sufficient viable retinal cells per PMDA review; Gene therapy for biallelic RPE65 mutation-associated inherited retinal dystrophy; Japan review includes LCA/RP phenotype discussion but supports gene-based indication wording. · PMDA review notes limited information for some phenotype subgroups and emphasizes gene-based selection plus retinal viability. Reimbursement and treatment-center logistics were not fully verified in this pass. Confidence/conflicts: High for PMDA approval/review status; no conflict identified.
  • voretigene neparvovec (Luxturna Injection)[6]PMDA-approved (Japan)confirmed biallelic RPE65 gene mutations; viable retinal-cell assessment is relevant per source context; inherited retinal dystrophy caused by biallelic RPE65 gene mutations; subretinal administration as a gene therapy product. · The PMDA review describes Luxturna as a recombinant adeno-associated virus vector carrying the human RPE65 gene and expected to improve visual function by compensating for loss of RPE65 function. This entry does not establish Japanese reimbursement details, designated treatment-center requirements, genetic-testing access, or individual eligibility; specialist ophthalmology/genetics evaluation is required. Confidence/conflicts: High for Japanese PMDA approval and indication summary; no conflict identified. Reimbursement, center designation, and testing pathway remain unresolved.

Australia

  • ophthalmic assessment, genetic testing/counselling, low-vision and mobility support, gene-therapy referral where relevant[7]Standard option (per Retina Australia)over 300 IRD-associated genes; RPE65 is one gene-specific therapy context; Australian genetic testing/counselling, registry, and supportive-care infrastructure for IRDs before or alongside gene-specific treatment. · These are patient-support/education sources, not gene-therapy eligibility rules. A negative or inconclusive genetic test does not rule out IRD, and RPE65 therapy only applies to the specific biallelic RPE65 context with viable retinal cells. Confidence/conflicts: Medium-high for Australian support/genetic-testing navigation; not a regulator or payer source. No conflict identified.
  • specialist IRD assessment and management guideline; genetic diagnosis and gene-therapy readiness context[8]Standard option (per Royal Australian and New Zealand College of Ophthalmologists)gene-specific diagnosis required for gene-targeted therapy; RPE65 and many non-RPE65 genes; Professional ophthalmology assessment/management framework for inherited retinal degenerations, including gene-therapy-era considerations. · This entry records professional-guideline context and does not extract a drug-specific recommendation beyond the document's scope and references. Specific treatment eligibility must be checked against current TGA/MSAC/Luxturna criteria and specialist center protocols. Confidence/conflicts: Medium-high for professional-guideline context; current specific gene-therapy recommendations need live source confirmation. No conflict identified.
  • voretigene neparvovec (Luxturna)[9]TGA-registered (Australia)pathological biallelic RPE65 mutations confirmed by NATA or ILAC accredited laboratory; sufficient viable retinal cells; Gene therapy for biallelic RPE65-mediated inherited retinal dystrophy; service/technology delivery requires subretinal injection after vitrectomy per MSAC summary. · TGA approval is not the same as full funding/access at every Australian site. MSAC source documents assessment context but this entry does not map current state-by-state treatment-center logistics. Confidence/conflicts: High for TGA approval and MSAC assessment context; medium for current funding/treatment-center pathways. confirm current TGA ARTG registration status Availability/reimbursement outside the approving regulator not established.
  • voretigene neparvovec (Luxturna)[9]TGA-registered (Australia)pathological biallelic RPE65 mutations confirmed by NATA or ILAC accredited laboratory; sufficient viable retinal cells; Gene therapy for biallelic RPE65-mediated inherited retinal dystrophy; service/technology delivery requires subretinal injection after vitrectomy per MSAC summary. · TGA approval is not the same as full funding/access at every Australian site. MSAC source documents assessment context but this entry does not map current state-by-state treatment-center logistics. Confidence/conflicts: High for TGA approval and MSAC assessment context; medium for current funding/treatment-center pathways. confirm current TGA ARTG registration status Availability/reimbursement outside the approving regulator not established.
  • voretigene neparvovec (Luxturna)[10]Approvedconfirmed biallelic RPE65 pathogenic variants; sufficient viable retinal cells; Australian public funding/service-delivery assessment context for Luxturna in RPE65-mediated IRD. · MSAC funding/service advice is not the same as individual eligibility or treatment-center availability. Registry/managed-access data collection and specialist center arrangements may apply. Confidence/conflicts: High for Australian MSAC funding-service assessment; treatment-center map remains source-pending. No conflict identified. Availability/reimbursement outside the approving regulator not established.
  • voretigene neparvovec (Luxturna)[10]Approvedconfirmed biallelic RPE65 pathogenic variants; sufficient viable retinal cells; Australian public funding/service-delivery assessment context for Luxturna in RPE65-mediated IRD. · MSAC funding/service advice is not the same as individual eligibility or treatment-center availability. Registry/managed-access data collection and specialist center arrangements may apply. Confidence/conflicts: High for Australian MSAC funding-service assessment; treatment-center map remains source-pending. No conflict identified. Availability/reimbursement outside the approving regulator not established.
  • voretigene neparvovec (Luxturna)[10]Approvedconfirmed biallelic RPE65 pathogenic variants; sufficient viable retinal cells; Australian public funding/service-delivery assessment context for Luxturna in RPE65-mediated IRD. · MSAC funding/service advice is not the same as individual eligibility or treatment-center availability. Registry/managed-access data collection and specialist center arrangements may apply. Confidence/conflicts: High for Australian MSAC funding-service assessment; treatment-center map remains source-pending. No conflict identified. Availability/reimbursement outside the approving regulator not established.

Canada

  • voretigene neparvovec (Luxturna)[11]Approvedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; Canadian Health Canada/CADTH review context for one-time subretinal gene therapy in RPE65-mediated IRD with viable retinal cells. · CADTH review is not province-specific reimbursement. Genetic confirmation, retinal viability, treatment-center readiness, surgery, immunomodulation, and follow-up all require specialist inherited-retinal-disease assessment. Confidence/conflicts: High for Canadian indication/review context; reimbursement varies by province. No conflict identified.
  • voretigene neparvovec (Luxturna)[11]Approvedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; Canadian Health Canada/CADTH review context for one-time subretinal gene therapy in RPE65-mediated IRD with viable retinal cells. · CADTH review is not province-specific reimbursement. Genetic confirmation, retinal viability, treatment-center readiness, surgery, immunomodulation, and follow-up all require specialist inherited-retinal-disease assessment. Confidence/conflicts: High for Canadian indication/review context; reimbursement varies by province. No conflict identified.
  • voretigene neparvovec (Luxturna)[12]Health Canada approvedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; BC PharmaCare coverage-decision context for Luxturna in RPE65-mediated IRD. · The decision document is informational and does not replace physician advice. Exact BC special authority/current coverage criteria should be checked directly before assuming eligibility. Confidence/conflicts: High for BC coverage-decision context; exact live criteria remain source-pending. No conflict identified.
  • voretigene neparvovec (Luxturna)[12]Health Canada approvedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; BC PharmaCare coverage-decision context for Luxturna in RPE65-mediated IRD. · The decision document is informational and does not replace physician advice. Exact BC special authority/current coverage criteria should be checked directly before assuming eligibility. Confidence/conflicts: High for BC coverage-decision context; exact live criteria remain source-pending. No conflict identified.
  • voretigene neparvovec (Luxturna)[12]Health Canada approvedconfirmed biallelic RPE65 mutations; sufficient viable retinal cells; BC PharmaCare coverage-decision context for Luxturna in RPE65-mediated IRD. · The decision document is informational and does not replace physician advice. Exact BC special authority/current coverage criteria should be checked directly before assuming eligibility. Confidence/conflicts: High for BC coverage-decision context; exact live criteria remain source-pending. No conflict identified.

출처

  1. DailyMed / U.S. National Library of Medicine — official drug label · official drug label
  2. European Medicines Agency (EMA) — regulator EPAR · regulator EPAR
  3. Haute Autorité de Santé (HAS) — health technology reimbursement opinion · health technology reimbursement opinion
  4. Gemeinsamer Bundesausschuss (G-BA) — benefit-assessment justification · benefit-assessment justification
  5. Pharmaceuticals and Medical Devices Agency (PMDA) — regulator approved-products review list · regulator approved-products review list
  6. Pharmaceuticals and Medical Devices Agency (PMDA) — regulator review report PDF · regulator review report PDF
  7. Retina Australia — patient-advocacy education · patient-advocacy education
  8. Royal Australian and New Zealand College of Ophthalmologists (RANZCO) — professional guideline · professional guideline
  9. Therapeutic Goods Administration (TGA) — regulator public assessment summary · regulator public assessment summary
  10. Medical Services Advisory Committee (MSAC) — public summary document / funding-service assessment · public summary document / funding-service assessment
  11. NCBI Bookshelf / CADTH — clinical review report · clinical review report
  12. British Columbia Ministry of Health / PharmaCare — provincial drug coverage decision · provincial drug coverage decision

위 내용은 공식 규제·접근 상태일 뿐, 의학적 조언이나 추천이 아니고, 적격성을 판단하지도 않습니다. 어떤 선택지가 적합한지는 환자의 상황과 종양내과 팀에 달려 있습니다. 규제 상태는 바뀔 수 있으니 표시된 출처에서 확인하세요. 임상 세부 내용은 영문이 정본입니다. 최종 확인 2026-06-12.