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A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy (OPA-LONG)

2026年7月21日更新者：Maximilian-Joachim Gerhardt、Ludwig-Maximilians - University of Munich

Clinical Characterisation of OPA1-Associated Autosomal-Dominant Optic Atrophy

This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy. Participants will undergo standardized ophthalmic and functional assessments, including visual acuity testing, visual field testing, color vision and contrast sensitivity testing, optical coherence tomography, retinal flavoprotein fluorescence imaging, and video-oculography-based ocular motor and pupillary measurements. The study aims to characterize disease severity and progression over time and to identify structural, metabolic, and functional biomarkers that may serve as clinical endpoints for future therapeutic studies.

研究概览

地位

招聘中

条件

研究类型

观察性的

注册 (估计的)

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习联系方式

姓名：Sarah Marxsen
电话号码：+49 89 4400 53770
邮箱：sarah.marxsen@med.uni-muenchen.de

研究联系人备份

姓名：Ursula Reinstein, Dr. med. vet.
邮箱：ursula.reinstein@med.uni-muenchen.de

学习地点

德国
- Bavaria
  - Munich、Bavaria、德国、80336
    - 招聘中
    - Department of Ophthalmology, LMU University Hospital, LMU Medizin, Ludwig-Maximilians-Universität München
    - 接触：
      
      Sarah Marxsen
      
      电话号码：+49-89-4400-53770
      
      邮箱：sarah.marxsen@med.uni-muenchen.de
    - 副研究员：
      
      Claudia Priglinger, Prof. Dr. med.
    - 副研究员：
      
      Günther Rudolph, Prof. Dr. med.

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

孩子
成人
年长者

接受健康志愿者

不

取样方法

非概率样本

研究人群

Participants will be recruited from the inherited retinal disease and ophthalmogenetics clinic of the Department of Ophthalmology, University Hospital, Ludwig-Maximilians-Universität München, Germany. The study population consists of patients followed at this tertiary referral center. Additional participants may be referred by genetic diagnostic centers or other physicians in Germany or abroad after molecular genetic testing and clinical suspicion of OPA1-related disease. Self-referral by patients with a previous diagnosis of OPA1-associated autosomal dominant optic atrophy is also accepted.

描述

Inclusion Criteria:

Age 6 years or older
Clinical diagnosis or clinical features consistent with optic atrophy
Molecular genetic confirmation of a pathogenic or likely pathogenic variant in the OPA1 gene
Ability of the participant, or the participant's parent or legal guardian, to understand the nature of the study and provide written informed consent

(Participants are eligible for inclusion if all of the criteria mentioned above are met)

Exclusion Criteria:

- Severe systemic disease or medical condition that, in the opinion of the investigator, would preclude participation in the study-related examinations

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

研究衡量的是什么？

主要结果指标

结果测量	措施说明	大体时间
Change in 2.5% low-contrast visual acuity measured with Sloan letter charts 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in low-contrast visual acuity measured using 2.5% low-contrast Sloan letter charts. Low-contrast visual acuity will be recorded as the number of Sloan letters correctly read and may be converted to logMAR for analysis. The unit of measure is number of Sloan letters correctly read.	Baseline and follow-up visits up to 3 years
Change in contrast sensitivity 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in contrast sensitivity measured using the Manifold® Platform from Adaptive Sensory Technology. The unit of measure is log contrast sensitivity.	Baseline and follow-up visits up to 3 years
Change in macular ganglion cell layer thickness measured by optical coherence tomography 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in macular ganglion cell layer thickness, or ganglion cell-inner plexiform layer thickness where applicable, measured by optical coherence tomography. The unit of measure is micrometers.	Baseline and follow-up visits up to 3 years
Change in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in peripapillary retinal nerve fiber layer thickness measured by optical coherence tomography. The unit of measure is micrometers.	Baseline and follow-up visits up to 3 years

次要结果测量

结果测量	措施说明	大体时间
Change in retinal flavoprotein fluorescence intensity measured by flavoprotein fluorescence imaging 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in retinal autofluorescence intensity measured using the OcuMet Beacon confocal scanning ophthalmoscope. The unit of measure is a device-specific autofluorescence intensity score.	Baseline and follow-up visits up to 3 years
Change in central visual field sensitivity measured by Humphrey 10-2 automated perimetry 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in central visual field sensitivity measured using Humphrey 10-2 automated perimetry. The unit of measure is decibels.	Baseline and follow-up visits up to 3 years
Change in protan and tritan colour contrast thresholds measured by the Arden Colour Contrast Test 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in protan and tritan colour contrast thresholds measured using the Arden Colour Contrast Test. Protan and tritan thresholds will be reported separately. The unit of measure is percent contrast.	Baseline and follow-up visits up to 3 years
Change in best-corrected visual acuity (BCVA) measured with high-contrast visual acuity testing 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in best-corrected visual acuity (BCVA) measured using standardized high-contrast visual acuity testing. BCVA will be recorded as the number of letters correctly read or converted to logMAR for analysis. The unit of measure is logMAR or number of letters correctly read.	Baseline and follow-up visits up to 3 years

其他结果措施

结果测量	措施说明	大体时间
Change in pupil diameter measured by video-oculography using BulbiCAM 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in pupil diameter measured by video-oculography using the BulbiCAM Pupil Dynamics test. The unit of measure is millimeters.	Baseline and follow-up visits up to 3 years
Change in pupillary peak velocity measured by video-oculography using BulbiCAM 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in pupillary peak constriction and dilation velocity measured by video-oculography using the BulbiCAM Pupil Dynamics test. Constriction and dilation velocity will be reported separately. The unit of measure is millimeters per second.	Baseline and follow-up visits up to 3 years
Change in cumulative fixation time measured by BulbiCAM Fixation test 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in the cumulative fixation time measured using the BulbiCAM. The unit of measure is seconds.	Baseline and follow-up visits up to 3 years
Change in smooth pursuit gain measured by video-oculography using BulbiCAM 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in device-derived smooth pursuit gain measured during the BulbiCAM Smooth Pursuit test. The unit of measure is percent.	Baseline and follow-up visits up to 3 years
Change in objective central visual field sensitivity measured by KONAN ObjectiveFIELD Analyzer 大体时间：Baseline and follow-up visits up to 3 years	Change from baseline in objective central visual field sensitivity measured using the KONAN ObjectiveFIELD Analyzer with multifocal pupillographic objective perimetry. The unit of measure is decibels.	Baseline and follow-up visits up to 3 years

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

Ludwig-Maximilians - University of Munich

调查人员

首席研究员：Maximilian-Joachim Gerhardt, Dr. med.、Department of Ophthalmology, LMU University Hospital, Ludwig-Maximilians-Universität München

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (实际的)

2026年7月16日

初级完成 (估计的)

2030年10月1日

研究完成 (估计的)

2030年11月1日

研究注册日期

首次提交

2026年6月21日

首先提交符合 QC 标准的

2026年7月21日

首次发布 (实际的)

2026年7月28日

研究记录更新

最后更新发布 (实际的)

2026年7月28日

上次提交的符合 QC 标准的更新

2026年7月21日

最后验证

2026年7月1日

A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy (OPA-LONG)

Clinical Characterisation of OPA1-Associated Autosomal-Dominant Optic Atrophy

研究概览

地位

条件

研究类型

注册 (估计的)

联系人和位置

学习联系方式

研究联系人备份

学习地点

参与标准

资格标准

适合学习的年龄

接受健康志愿者

取样方法

研究人群

描述

学习计划

研究是如何设计的？

设计细节

研究衡量的是什么？

主要结果指标

结果测量

措施说明

大体时间

次要结果测量

结果测量

措施说明

大体时间

其他结果措施

结果测量

措施说明

大体时间

合作者和调查者

赞助

调查人员

研究记录日期

研究主要日期

学习开始 (实际的)

初级完成 (估计的)

研究完成 (估计的)

研究注册日期

首次提交

首先提交符合 QC 标准的

首次发布 (实际的)

研究记录更新

最后更新发布 (实际的)

上次提交的符合 QC 标准的更新

最后验证

更多信息

与本研究相关的术语

其他相关的 MeSH 术语

其他研究编号

计划个人参与者数据 (IPD)

计划共享个人参与者数据 (IPD)？

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