Clinical Trial: Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Pilot Study of Intravitreal Injection of Ranibizumab (rhuFAB V2) for Advanced Ocular Disease of Von Hippel-Lindau (VHL) Disease

Brief Summary:

This study will examine whether he drug ranibizumab can slow or stop the growth of angiomas (blood vessel tumors) in patients with Von Hippel-Lindau syndrome (VHL). Angiomas commonly develop in the back of the eye on the retina and the optic nerve in patients with VHL. Although these tumors are not cancerous, they may cause significant vision loss. Current treatments, including laser therapy, cryotherapy, and vitrectomy, may not be successful or possible for all patients. Ranibizumab decreases production of VEGF, a growth factor that is important for the formation of new blood vessels and that is elevated in patients with VHL. Preliminary findings from other studies suggest that ranibizumab can reduce retinal thickening caused by vessel and tumor growth and improve vision.

Patients 18 years of age and older with retinal angiomas due to VHL in one or both eyes and central vision loss of 20/40 or worse may be eligible for this study. Participants undergo the following tests and procedures:

  • Medical history, physical examination, electrocardiogram (EKG) and blood tests.
  • Eye examination, including eye pressure measurement and dilation of the pupils to examine the retina.
  • Fluorescein angiography to evaluate the eye's blood vessels. For this test, a yellow dye is injected into an arm vein and travels to the blood vessels in the eyes. Pictures of the retina are taken using a camera that flashes a blue light into the eye. The pictures show if any dye has leaked from the vessels into the retina, indicating possible blood vessel abnormality.
  • Optical coherence tomography to measure retinal thickness. The eyes are examined through a machine that produces cross-sectional pictures of the retina. These m

    Detailed Summary: Von Hippel-Lindau Syndrome (VHL) is an autosomal dominant heritable disorder in which multiple benign and malignant neoplasms and cysts of specific histopathologies develop in the kidney, adrenal gland, pancreas, brain, spinal cord, eye, inner ear, epididymis, and broad ligament. Retinal angioma may be one of the earliest manifestations of VHL disease and may lead to a significant decrease in visual acuity of the affected individual. These tumors rarely regress spontaneously. The main cause of vision loss is retinal edema, specifically macular edema secondary to enlargement of peripheral retinal angiomas or angiomas found on or around the optic disk. Treatment of retinal angiomas depends on the location and size of the lesions but typically consists of photocoagulation or cryotherapy. However, there is no proven effective therapy for the treatment of VHL ocular lesions on or surrounding the optic nerve or lesions in the peripheral retina too large to respond to the traditional therapies. The genetic mutation found in VHL disease up-regulates the production of vascular endothelial growth factor (VEGF). Immunochemical studies of the VHL ocular lesions, as well as others found elsewhere in the body show marked increase in VEGF. This open-label study will pilot the use of an anti-VEGF therapy, ranibizumab (rhuFab V2) in 5 participants to investigate the potential efficacy as a treatment for retinal angiomas associated with VHL. Participants will receive 7 intravitreal injections of study drug over a 6 month period, with the option of up to seven additional injections at the same dose and schedule during follow-up for a maximum period of 1 year after the initiation of treatment. The primary outcome will be a change in the best corrected visual acuity of 15 letters or more eight weeks after a participant receives the final study injection. The secondary outcomes will be a reduction in retinal thickening and leakage eight weeks after the participants receives the final stu
    Sponsor: National Eye Institute (NEI)

    Current Primary Outcome:

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    Information By: National Institutes of Health Clinical Center (CC)

    Dates:
    Date Received: August 12, 2004
    Date Started: August 10, 2004
    Date Completion: August 15, 2007
    Last Updated: January 24, 2017
    Last Verified: August 15, 2007