Metformin Benefits Patients with Tuberous Sclerosis Complex

Could repurposing certain drugs help treat other conditions? Well, according to Technology Networks, yes. Recently, researchers from the UCL Great Ormond Institute of Child Health and the Great Ormond Street Hospital (GOSH) determined that a drug often used to treat patients with type 2 diabetes may also have benefits for patients with tuberous sclerosis complex (TSC). In fact, researchers discovered that metformin has the ability to lower symptom impact in relation to tumor size and seizure frequency. See the research paper published in EClinicalMedicine.


Altogether, 51 patients enrolled in the study. Of these patients, all 51 had kidney tumors, 21 had seizures, and 27 had brain tumors. During the research, patients received either metformin or a placebo. Those who received metformin had a dose commonly given to patients with diabetes. According to MedLine Plus:

Metformin is in a class of drugs called biguanides. Metformin helps to control the amount of glucose (sugar) in your blood, decreases the amount of glucose you absorb from your food and the amount of glucose made by your liver, [and] increases your body’s response to insulin, a natural substance that controls the amount of glucose in the blood.

Outside of diabetes, metformin can also be used to treat polycystic ovarian syndrome (PCOS). Researchers determined that metformin inhibits the same cell growth pathway that spurs TSC. Thus, they wondered if treating patients with TSC with metformin would confer benefits. Altogether, patients were treated over a 1-year period.

Following treatment, researchers found that:

  • Metformin was extremely effective in younger patients,
  • Patients with seizures who received metformin experienced a 44% reduction in frequency.
  • Additionally, those with brain tumors who received metformin experienced a 21% size reduction. Alternately, patients taking a placebo saw a 3% increase in tumor size.
  • Metformin had no real impact on treating kidney tumors. However, researchers wonder if changing the dose could address this issue.
  • The drug offers a cost-effective and beneficial treatment option for patients with TSC.

Tuberous Sclerosis Complex (TSC)

Overall, TSC1 or TSC2 gene mutations cause tuberous sclerosis complex, a rare genetic disease characterized by benign tumors and growths throughout the body. Typically, both genes control normal cell growth. However, the mutations allow for the rapid growth and proliferation of cells. Tumors often form in the brain, lungs, kidneys, heart, and skin. While patients with TSC often live a normal life span, some symptoms and complications may be dangerous. Symptoms include:

  • Intellectual and developmental delays
  • Seizures
  • Facial lesions resembling acne
  • Light-colored or thickened skin
  • Repetitive behaviors
  • Self-harming behavior
  • Hyperactivity
  • Aggression
  • Growths under or around the nails
  • Lymphangioleiomyomatosis (LAM)
    • Note:  This lung disease causes too much smooth muscle-like tissue in the lungs, and may ultimately lead to lung collapse.
  • Chest pain
  • Difficulty with social interaction and/or communication
  • Cough
  • Kidney cysts and angiomyolipomas
  • Shortness of breath and/or difficulty breathing
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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