Clinical trials on Von Hippel-Lindau disease (VHL)

Von Hippel-Lindau disease (VHL) is a rare genetic disorder characterized by the formation of tumors and cysts throughout the body, particularly in the kidneys, adrenal glands, pancreas, and central nervous system. This inherited condition results from mutations in the VHL gene, which is involved in cell growth regulation. Tumors can be either benign or malignant and tend to appear in young adulthood. Complications of Von Hippel-Lindau Disease include:
  • Hemangioblastomas: These are blood vessel tumors that most commonly occur in the brain and spinal cord, potentially causing headaches, vomiting, weakness, and loss of muscle coordination.
  • Pheochromocytomas: Tumors of the adrenal gland that can cause high blood pressure, headaches, heart palpitations, and excessive sweating.
  • Renal Cell Carcinoma: Kidney cancer, which can be life-threatening and may lead to the loss of kidney function.
  • Pancreatic Cysts and Neuroendocrine Tumors: These can disrupt the digestive process and may lead to diabetes or pancreatic pain.
  • Retinal Angiomas: Tumors in the eye that can cause vision loss if not treated promptly.
Currently available therapies for Von Hippel-Lindau Disease include:
  • Surgery: The primary treatment for removing tumors before they cause serious complications. Surgical approaches depend on the tumor’s size, location, and type.
  • Radiation Therapy: Used particularly for hemangioblastomas that are difficult to access surgically.
  • Medication for symptom management: Includes antihypertensives for pheochromocytomas and pain management for pancreatic tumors.
  • Regular surveillance: Due to the progressive nature of VHL, regular monitoring via MRI, CT scans, and other diagnostic tests is crucial to detect new tumors early.
Prognosis of Von Hippel-Lindau Disease: The prognosis for individuals with Von Hippel-Lindau disease varies significantly based on the types and locations of tumors that develop. Early detection and treatment of tumors are critical for managing the disease effectively and improving outcomes. With careful ongoing monitoring and prompt treatment of tumors, individuals with VHL can manage symptoms and reduce the risk of developing more severe complications. The genetic nature of the disease requires family members to consider genetic testing to identify carriers or early manifestations of the disease.
  • CT-EU-00112395

    Study of belzutifan for treating advanced cancers

    This clinical trial aim is to test out a new drug called belzutifan, also known as MK-6482 or WELIREG™. It’s a pill patient can take once a day, and the main goal is to see if it can shrink or get rid of tumors in folks with certain types of cancer.

    The cancers the researchers are looking at are pheochromocytoma and paraganglioma, which are tumors that start in the adrenal glands or nervous system. Pancreatic neuroendocrine tumors, tumors related to von Hippel-Lindau disease, advanced gastrointestinal stromal tumors, and other solid tumors with certain genetic changes that involve a protein called HIF-2α, there will be also tested.

    The big thing the researchers are  keeping an eye on is the objective response rate, which means how many folks see their tumors shrink or disappear completely while taking this drug. The researchers will be watching closely for any side effects too, of course, to make sure this new medicine is safe.

    • Belzutifan