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指定難病 — No.301

黄斑ジストロフィー

検索語 Macular Dystrophy ・ 最終更新 2026-07-22 22:15 ・ 最新に更新

Data Sheet
指定 No.301
Src PubMed · CT.gov · jRCT

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( 01 )EVIDENCE / PUBMED · 5件

世界の論文

直近の研究を、やさしい日本語で

各論文の見出しにある「確からしさ」は、その研究がどれくらい信頼できるかの目安です。「理論段階」はまだ仮説に近く、下にいくほど多くの患者で検証されていて、「メタ解析」がもっとも信頼できます。

観察研究
MK-01 · PMID 42484821

Aflibercept 8mg for neovascular age related macular degeneration refractory to faricimab

Abstract / 原文

PURPOSE: To evaluate the short-term efficacy of intravitreal aflibercept 8 mg in patients with neovascular age-related macular degeneration (nAMD) who exhibited persistent or recurrent exudation two months after faricimab treatment during the maintenance phase following anti-vascular endothelial growth factor (VEGF) loading therapy. STUDY DESIGN: Retrospective observational study. METHODS: Twenty-seven eyes with nAMD were included. Best-corrected visual acuity (BCVA) and optical coherence tomography (OCT) biomarkers-including intraretinal fluid (IRF), subretinal fluid (SRF), and sub-retinal pigment epithelium (sub-RPE) fluid at the subfoveal and macular areas-were evaluated before and two months after treatment with faricimab and aflibercept 8 mg. Subgroup analyses were performed according to AMD subtype (typical nAMD vs. polypoidal choroidal vasculopathy [PCV]) and pachychoroid characteristics (pachychoroid vs. non-pachychoroid). RESULTS: BCVA did not show significant changes after either faricimab or aflibercept 8 mg treatment. However, aflibercept 8 mg resulted in a significant reduction in subfoveal SRF (from 44.4% to 11.1%, P = 0.014) and macular SRF (from 85.2% to 29.6%, P < 0.0001), whereas faricimab did not produce significant anatomical improvements. No significant changes were observed in IRF or sub-RPE fluid with either treatment, possibly due to the low prevalence of the fluid at baseline. Subgroup analyses demonstrated no substantial differences in treatment response between typical nAMD and PCV, or between pachychoroid and non-pachychoroid eyes. CONCLUSION: Intravitreal aflibercept 8 mg may provide short-term anatomical benefits, particularly in reducing subretinal fluid, in eyes with nAMD showing persistent or recurrent exudation after faricimab treatment during the maintenance phase, regardless of nAMD subtype or pachychoroid status.

Journal
Japanese journal of ophthalmology(2026 Jul)
Authors
3名
Type
Journal Article
PubMedで原文を見る
観察研究
MK-02 · PMID 42484729

Teleophthalmology for Retinal Disease Screening and Referral in Low- and Middle-Income Countries: A Case Overview of India

Abstract / 原文

Innovations like teleophthalmology have made great strides in improving access to care for patients with retinal disease by enabling prompt screening and referral, especially in underprivileged areas. This review highlights the growing role of teleophthalmology in addressing the burden of few retinal diseases like diabetic retinopathy (DR), age-related macular degeneration (ARMD), and retinopathy of prematurity (ROP), artificial intelligence (AI), electronic medical records (EMR) and portable imaging technologies have greatly increased the precision of detection and care coordination. Its scalability is further supported by high patient satisfaction and cost-effectiveness. Barriers to implementation, however, include inadequate training, data security concerns, limited infrastructure and upfront investment costs. We offer focused solutions to address existing gaps, drawing primarily on evidence and national teleophthalmology initiatives from India, which is presented as a representative LMIC case study. The findings may guide the development and scale-up of teleophthalmology services in other LMICs settings. Teleophthalmology can become the backbone of equitable retinal disease care delivery with appropriate policy support and standardization of processes involved. These findings have broader implications for teleophthalmology implementation in LMICs that face similar healthcare delivery challenges.

Journal
International ophthalmology(2026 Jul)
Authors
3名
Type
Journal Article, Review
PubMedで原文を見る
観察研究
MK-03 · PMID 42484679

Comparative outcomes of aflibercept 8 mg and faricimab in neovascular AMD refractory to aflibercept 2 mg

Abstract / 原文

PURPOSE: To evaluate the real-world outcomes of switching to aflibercept 8 mg or faricimab in patients with neovascular age-related macular degeneration (nAMD) who showed resistance to aflibercept 2 mg. METHODS: This retrospective chart review included 159 patients with refractory nAMD who had received at least three consecutive injections of aflibercept 2 mg at 4-6-week intervals before switching therapy. Patients who showed resistance to aflibercept 2 mg were switched to faricimab or aflibercept 8 mg between February 2024 and January 2025. After switching, assessments included best-corrected visual acuity (BCVA), central retinal thickness (CRT), choroidal thickness, maximum height and width of pigment epithelial detachment (PED), choroidal vascularity index (CVI), and the presence of intraretinal or subretinal fluid (IRF/SRF). RESULTS: Over six months, mean BCVA and CRT did not show a significant difference between aflibercept 8 mg group (n = 78) and the faricimab group (n = 81). At month 6, the faricimab group demonstrated significant reductions in CRT, subfoveal choroidal thickness (SFCT), Haller layer thickness, and maximum PED height, whereas the aflibercept 8 mg group did not show significant changes in these parameters. CVI increased significantly after switching to faricimab, whereas no significant change was observed after switching to aflibercept 8 mg. In addition, a lower proportion of eyes with IRF and/or SRF was observed in the faricimab group at month 6. CONCLUSION: In nAMD patients resistant to aflibercept 2 mg, aflibercept 8 mg and faricimab achieved similar BCVA and CRT outcomes. However, faricimab induced greater anatomical changes, characterized by larger reductions in PED height and Haller layer thickness, improved fluid resolution, and a greater increase in CVI. These findings suggest that faricimab may provide additional anatomical benefits, particularly in choroidal structural parameters, in aflibercept 2 mg-resistant nAMD.

Journal
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie(2026 Jul)
Authors
3名
Type
Journal Article
PubMedで原文を見る
ランダム化比較試験(RCT)
MK-04 · PMID 42484595

Incomplete Retinal Pigment Epithelium and Outer Retinal Atrophy Characterized Using Fundus Autofluorescence: An 18-Month Post Hoc Analysis of GATHER2

Abstract / 原文

PURPOSE: To identify fundus autofluorescence (FAF) characteristics corresponding to incomplete retinal pigment epithelial and outer retina atrophy (iRORA), defined using optical coherence tomography (OCT), and progression of iRORA to complete lesions (cRORA). METHODS: In this GATHER2 (NCT04435366) post hoc analysis, pooled eyes from participants assigned to avacincaptad pegol (2 mg) or sham were analyzed for baseline iRORA beyond the borders of geographic atrophy; each iRORA was assessed for progression to cRORA at months 6, 12, and 18 using OCT. For each OCT-defined lesion at baseline and at each follow-up visit, FAF patterns were defined as none (no autofluorescence abnormalities), not classifiable, increased autofluorescence (IAF), questionably decreased (QDAF), or definite decreased (DDAF). RESULTS: Overall, 153 iRORA from 95 eyes were identified at baseline, and the majority demonstrated none (34.6%; n = 53) or QDAF (34.6%; n = 53) patterns. A smaller proportion of baseline iRORA exhibited a DDAF pattern (7.2%; n = 11). At month 18, the proportion of iRORA manifesting QDAF and DDAF patterns increased to 38.1% and 23.0%, respectively, and the none pattern decreased to 16.8%. The majority of lesions that remained as iRORA at month 18 demonstrated either none (52.8%) or QDAF (49.1%). iRORA that progressed to cRORA by month 18 was more likely to have more advanced FAF abnormalities, with 44.4% having IAF, 30.2% QDAF, and 27.3% DDAF. CONCLUSIONS: Findings from this large study reporting FAF characteristics of iRORA highlight the heterogeneity of these lesions and the association of the multimodal phenotype on progression over time.

Journal
Investigative ophthalmology & visual science(2026 Jul)
Authors
11名
Type
Journal Article, Randomized Controlled Trial, Multicenter Study
PubMedで原文を見る
観察研究
MK-05 · PMID 42484594

Lens Opacity in ABCA4-Associated Stargardt Disease Patients in the ProgStar Study

Abstract / 原文

PURPOSE: The purpose of this study was to estimate lens opacity (LO) and associated risk factors in patients with ABCA4 associated Stargardt disease (STGD1). METHODS: This is a secondary analysis of the multicenter ProgStar study. Patients with molecularly confirmed STGD1 aged ≥6 years from the United States and Europe were enrolled and followed for 2 years. LO was graded using the Age-Related Eye Disease Study (AREDS) protocol during slit lamp examinations. Baseline prevalence and 2-year incidence of LO were estimated. Logistic regression with generalized estimating equation was used to identify risk factors associated with LO. RESULTS: Of the 259 participants, 54% were women, 86% were Caucasian, and the median age of STGD1 symptom onset was 19 years. At baseline, median age = 31 (interquartile range [IQR] = 21-44, range = 6-68) years; LO prevalence = 14.3% (69/483) of study eyes. Older age and later disease symptom onset were significantly associated with LO prevalence: for every decade older, adjusted odds ratio (adjOR) = 4.6 (95% confidence interval [CI] = 2.6-7.9); adjOR for every decade later in symptom onset = 0.7 (95% CI = 0.4-1.0). Among the 354 eyes without LO at baseline, 2-year incidence was 5.6%. Older age was associated with incidence: adjOR for every decade older = 4.1 (95% CI = 1.8-9.1). Posterior-subcapsular cataract was rare and nuclear cataract was the most prevalent or incident type. CONCLUSIONS: LO prevalence in ProgStar is higher than in age-matched general population. Age and age of symptom onset were risk factors of LO, suggesting both biological and accelerated aging due to retinal degeneration in STGD1. Trials of STGD1 should closely monitor safety in the anterior segment and consider excluding patients expecting cataract surgery soon.

Journal
Investigative ophthalmology & visual science(2026 Jul)
Authors
15名
Type
Journal Article, Multicenter Study
PubMedで原文を見る
( 02 )TRIALS / JAPAN · 5件

日本で参加できる治験

現在 募集中のもの

各治験の「対象の目安」は年齢などの参加条件の一部です。ここに合っていても他の条件(病状・治療歴など)があります。詳しい参加条件は各治験ページで確認し、参加の可否は必ず主治医とご相談ください。

募集中
TR-01 · NCT07064759

加齢黄斑変性に伴う黄斑新生血管を有する患者さんを対象とした、4D-150の単回硝子体内(IVT)注射に関する試験

Single Intravitreal (IVT) Injection of 4D-150 in Patients With Macular Neovascularization Secondary to Age-Related Macular Degeneration

Phase
PHASE3
対象の目安
50歳以上
Country
日本・Latvia・Lithuania・アメリカ・アルゼンチン・イギリス・イタリア・オーストラリア・シンガポール・スペイン・ドイツ・ハンガリー・ブルガリア・ポルトガル
詳細・参加条件を見る
募集中
TR-02 · NCT07441642

加齢黄斑変性に伴う地理的萎縮を有する参加者を対象に、FWY003の効果と安全性をプラセボと比較して調べる試験

A Study to Investigate Efficacy and Safety of FWY003 Compared With Placebo in Participants With Geographic Atrophy Secondary to Age-related Macular Degeneration

Phase
PHASE2
対象の目安
50歳以上
Country
日本・Puerto Rico・アメリカ・イギリス・イタリア・オーストラリア・カナダ・スペイン・チェコ・ドイツ・ハンガリー・フランス・ブルガリア・ポーランド・ルーマニア
詳細・参加条件を見る
募集中
TR-03 · NCT05407636

新生血管を伴う加齢黄斑変性(nAMD)を対象としたRGX-314遺伝子治療に関する重要な第2相試験

Pivotal 2 Study of RGX-314 Gene Therapy in Participants With nAMD

Phase
PHASE3
対象の目安
50歳〜89歳
Country
日本・Puerto Rico・アメリカ・イギリス・イタリア・カナダ・スペイン・ドイツ・ハンガリー・フランス
詳細・参加条件を見る
募集中
TR-04 · NCT07005323

VEGF抵抗性加齢黄斑変性における進行抑制と網膜退縮

Progression Suppression and Retinal Regression in VEGF-resistant AMD

Phase
NA
対象の目安
50歳〜85歳
Country
日本
詳細・参加条件を見る
募集中
TR-05 · NCT06962839

BI 1815368が糖尿病黄斑浮腫という目の病気を持つ人々に役立つかどうかを調べる試験

A Study to Test Whether BI 1815368 Helps People With an Eye Condition Called Diabetic Macular Edema

Phase
PHASE2
対象の目安
18歳以上
Country
日本・Slovakia・アメリカ・イギリス・チェコ・ドイツ・ハンガリー・ポーランド・中国
詳細・参加条件を見る
( 03 )REGISTRY / jRCT

治験をもっと探す

日本の公式レジストリで全件を確認

上の一覧は ClinicalTrials.gov の一部です。日本国内の治験の多くは、日本の公式レジストリ jRCT にのみ登録されています。下記から最新の全件をご確認ください。

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( 04 )SUPPORT

患者会・相談窓口

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