Impact of MEKi on learning

• Research type

  Research Study

• Full title

  Evaluating the impact of MEK inhibitors on neurocognitive functioning of children and young people with Neurofibromatosis 1

• IRAS ID

  351799

• Contact name

  Shruti Garg

• Contact email

  shruti.garg@manchester.ac.uk

• Sponsor organisation

  University of Manchester

• Duration of Study in the UK

  2 years, 7 months, 27 days

• Research summary

  Neurofibromatosis 1 (NF1) is a common autosomal dominant genetic condition affecting about 1:2700 individuals. NF1 is associated with a wide range of symptoms but up to 80% of people with NF1 will experience cognitive difficulties or neurodevelopment conditions (such as ASD and ADHD) and a significant proportion experience psychological comorbidities. Combined, these difficulties are frequently cited as the biggest cause of challenge and concern for children and young people with NF1 and their families.
  Since 2022, MEK inhibitors (MEKi) have been available in the UK to treat severe, inoperable physical symptoms of NF1 (plexiform neurofibromas [PNs]) in children and young people. These medications work by addressing underlying mechanisms associated with NF1 on a molecular level and represent a breakthrough intervention for management of the physical symptoms. There is evidence to suggest these mechanisms also drive the cognitive and psychological difficulties experienced by some with NF1 and some early studies have shown that MEKi have positive effects on these symptoms. This study will use a broad assessment battery which includes; blood samples, objective/direct measures of cognition and brain function alongside objective and subjective questionnaires and optional qualitative interview to evaluate the impact of MEKi on a wider range of cognitive and psychological functioning of children and young people. Participants will undergo assessments on 4 research visits starting prior to commencing MEKi treatment up to 6 months after treatment. Research visits will be conducted either at MFT to coincide with clinical appointments or participants home address.

• REC name

  North West - Haydock Research Ethics Committee

• REC reference

  25/NW/0101

• Date of REC Opinion

  17 Apr 2025

• REC opinion

  Further Information Favourable Opinion