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

21 de julio de 2026 actualizado por: 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.

Descripción general del estudio

Estado

Reclutamiento

Condiciones

Tipo de estudio

De observación

Inscripción (Estimado)

50

Contactos y Ubicaciones

Esta sección proporciona los datos de contacto de quienes realizan el estudio e información sobre dónde se lleva a cabo este estudio.

Estudio Contacto

Copia de seguridad de contactos de estudio

Ubicaciones de estudio

  • Alemania
    • Bavaria
      • Munich, Bavaria, Alemania, 80336
        • Reclutamiento
        • Department of Ophthalmology, LMU University Hospital, LMU Medizin, Ludwig-Maximilians-Universität München
        • Contacto:
        • Sub-Investigador:
          • Claudia Priglinger, Prof. Dr. med.
        • Sub-Investigador:
          • Günther Rudolph, Prof. Dr. med.

Criterios de participación

Los investigadores buscan personas que se ajusten a una determinada descripción, denominada criterio de elegibilidad. Algunos ejemplos de estos criterios son el estado de salud general de una persona o tratamientos previos.

Criterio de elegibilidad

Edades elegibles para estudiar

  • Niño
  • Adulto
  • Adulto Mayor

Acepta Voluntarios Saludables

No

Método de muestreo

Muestra no probabilística

Población de estudio

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.

Descripción

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

Plan de estudios

Esta sección proporciona detalles del plan de estudio, incluido cómo está diseñado el estudio y qué mide el estudio.

¿Cómo está diseñado el estudio?

Detalles de diseño

¿Qué mide el estudio?

Medidas de resultado primarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Change in 2.5% low-contrast visual acuity measured with Sloan letter charts
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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

Medidas de resultado secundarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Change in retinal flavoprotein fluorescence intensity measured by flavoprotein fluorescence imaging
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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

Otras medidas de resultado

Medida de resultado
Medida Descripción
Periodo de tiempo
Change in pupil diameter measured by video-oculography using BulbiCAM
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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

Colaboradores e Investigadores

Aquí es donde encontrará personas y organizaciones involucradas en este estudio.

Patrocinador

Ludwig-Maximilians - University of Munich

Investigadores

  • Investigador principal: Maximilian-Joachim Gerhardt, Dr. med., Department of Ophthalmology, LMU University Hospital, Ludwig-Maximilians-Universität München

Fechas de registro del estudio

Estas fechas rastrean el progreso del registro del estudio y los envíos de resultados resumidos a ClinicalTrials.gov. Los registros del estudio y los resultados informados son revisados ​​por la Biblioteca Nacional de Medicina (NLM) para asegurarse de que cumplan con los estándares de control de calidad específicos antes de publicarlos en el sitio web público.

Fechas importantes del estudio

Inicio del estudio (Actual)

16 de julio de 2026

Finalización primaria (Estimado)

1 de octubre de 2030

Finalización del estudio (Estimado)

1 de noviembre de 2030

Fechas de registro del estudio

Enviado por primera vez

21 de junio de 2026

Primero enviado que cumplió con los criterios de control de calidad

21 de julio de 2026

Publicado por primera vez (Actual)

28 de julio de 2026

Actualizaciones de registros de estudio

Última actualización publicada (Actual)

28 de julio de 2026

Última actualización enviada que cumplió con los criterios de control de calidad

21 de julio de 2026

Última verificación

1 de julio de 2026

Más información

Términos relacionados con este estudio

Términos MeSH relevantes adicionales

Otros números de identificación del estudio

  • 25-0268

Plan de datos de participantes individuales (IPD)

¿Planea compartir datos de participantes individuales (IPD)?

NO

Información sobre medicamentos y dispositivos, documentos del estudio

Estudia un producto farmacéutico regulado por la FDA de EE. UU.

No

Estudia un producto de dispositivo regulado por la FDA de EE. UU.

No

Esta información se obtuvo directamente del sitio web clinicaltrials.gov sin cambios. Si tiene alguna solicitud para cambiar, eliminar o actualizar los detalles de su estudio, comuníquese con register@clinicaltrials.gov. Tan pronto como se implemente un cambio en clinicaltrials.gov, también se actualizará automáticamente en nuestro sitio web. .

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