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NCT Number: NCT04153344

Function of the Pigment Epithelium in Patients With Type 1 Neurofibromatosis

The objective of this study is to study the function of the pigment epithelium in patients with neurofibromatosis type 1 using electro-oculogram to confirm abnormally high values reported in previous studies, but also to correlate this hyperactivity of the pigment epithelium with the presence and size of choroidal hyperreflective areas observed in infra-red imaging of the fundus.

The hypothesis of the study is that the function of the pigment epithelium measured by the electro-oculogram correlates with the surface of choroidal hyperreflective areas. Finally, the potential consequences of a supra-normal function of the pigment epithelium on the global retinal function are not known. A full-field electroretinogram will evaluate the global neurosensory retinal function.

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Key information

Conditions

Neurofibromatosis Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Neoplasms Neoplasms by Histologic Type Neoplasms, Nerve Tissue Neoplastic Syndromes, Hereditary Nerve Sheath Neoplasms Nervous System Diseases Neurocutaneous Syndromes Neurodegenerative Diseases Neurofibroma Neurofibromatoses Neurofibromatosis 1 Neuromuscular Diseases Peripheral Nervous System Diseases

Age range

7 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hôpital Necker-Enfants Malades

Paris, 75015, France

About this study

Patients with neurofibromatosis type 1 have numerous eye problems: glioma of the optic pathways, Lisch nodules, palpebral involvement by plexiform neurofibromas, orbital dysplasia, etc. With the emergence of multimodal imaging in ophthalmology a new ocular involvement has been described: choroidal hyperreflective areas. They are located in the most superficial layers of the choroid, adjacent to the retinal pigment epithelium, visible only on infra-red imaging of the fundus. These areas are frequently observed, about 90% in adults and 70 to 80% in children. With a sensitivity of 0.83 and a specificity of 0.96, these lesions would have their place as a diagnostic criterion for neurofibromatosis type 1.

In parallel, two successive studies have evaluated the function of the retinal pigment epithelium using electro-oculograms; they showed in patients with neurofibromatosis type 1 a significant increase in the Arden ratio, reflecting hyperactivity of the pigment epithelium.

The objective of this study is to study the function of the pigment epithelium in patients with neurofibromatosis type 1, using electro-oculogram to confirm these abnormally high values, but also to correlate this hyperactivity of the pigment epithelium to the presence and total area of choroidal lesions observed in infra-red imaging of the fundus.

The hypothesis of the study is that the function of the pigment epithelium measured by the electro-oculogram correlates with the surface of the choroidal hyperreflective areas. Finally, the potential consequences of a supra-normal function of the pigment epithelium on the global retinal function are not known. A full-field electroretinogram will evaluate the global neurosensory retinal function.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Patients with neurofibromatosis type 1, aged 7 years or older:
  • Presence of hyper-reflective choroidal lesions in infra-red imaging in the group with choroidal lesions.
  • Absence of hyper-reflective choroidal lesions in infra-red imaging in the group without choroidal lesions.
  • Control patients free from retinal or choroidal pathology, matched for age to patients in the group with neurofibromatosis type 1.
  • Patients consulting the ophthalmology department of Necker-Enfants Malades Hospital.
  • Non-opposition of the holders of the parental authority and the minor patient; non-opposition of the major patient.

Exclusion criteria

  • Impossibility to perform an electro-oculogram, especially because of an oculomotor disorder, or an electroretinogram, for example because of hyperactivity.
  • Significant impairment of visual function.
  • Retinal pathology proved.

Treatment and study plan

Electro-oculogram

Other

Electrophysiological recording of changes in electrical potential across the retinal pigmentary epithelium during successive periods of dark and light adaptation, according to ISCEV standards. Results will comprise dark trough value and light/dark (Arden) ratio.

Full-field electroretinogram

Other

Electrophysiological recording of retinal function. Results will comprise amplitudes and latencies of each electroretinography response (dark-adapted 0.01, dark-adapted 3.0, dark-adapted 10.0, dark-adapted 3.0 oscillatory potentials, light-adapted 3.0, light-adapted 3.0 flicker).

Primary outcomes

  1. Dark trough value

    Time frame: 12 months

    Electro-oculogram : dark trough value (μV).

  2. Light/dark (Arden) ratio

    Time frame: 12 months

    Electro-oculogram : ratio between the light and dark potentials.

Secondary outcomes

  1. Number and area of infrared hyperreflective areas

    Time frame: 12 months

    Infrared fundus picture.

  2. Values of the amplitudes

    Time frame: 12 months

    Electroretinogram : values of the amplitudes (μV) of a- and/or b-waves for dark-adapted 0.01, dark adapted 3.0, dark-adapted 10.0, dark-adapted 3.0 oscillatory potentials, light-adapted 3.0, and light-adapted 3.0 flicker.

  3. Values of the peak times

    Time frame: 12 months

    Electroretinogram : values of the peak times (ms) of a- and/or b-waves for dark-adapted 0.01, dark adapted 3.0, dark-adapted 10.0, dark-adapted 3.0 oscillatory potentials, light-adapted 3.0, and value of the peak-to-peak time (ms) for light-adapted 3.0 flicker.

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Collaborators

  • URC-CIC Paris Descartes Necker Cochin

Registry information

Acronym: NEF-1

Important dates

Study start
2020
Primary completion
2020
Study completion
2020
First posted
Nov 6, 2019
Registry last updated
Sep 12, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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