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Congenital Disorders

MCDS - In Follow-up

An open label phase I/IIa trial repurposing carbamazepine (CBZ) for the treatment of skeletal dysplasia in children

  • Study stage: In Follow-up
  • Sponsor: The Newcastle upon Tyne Hospitals NHS Foundation Trust
  • Funder: European Commission: Horizon 2020
  • Therapeutic area: Congenital Disorder
  • Type of study: CTIMP (Rare Disease)

Aim: To assess the safety and tolerability of carbamazepine (CBZ) in the treatment of children with MCDS who are ambulant but have not yet reached skeletal maturity (open epiphyses)

Primary outcome:

Stage 1:

    • Laboratory safety assessments, adverse events and physical examinations collected post IMP administration.
    • Outcome of dose-titration safety review at 6 months post IMP treatment initiation.

Stage 2:

    • Alteration from baseline in growth velocity over 12 months
    • Growth velocity follow-up data at 12 months post treatment initiation
  • Population: Paediatric
  • Phase: I/IIa
  • Design: Two-stage, open label
  • Setting: Secondary care
  • Planned Sample Size: 40 (11 participants Stage 1 dose titration; 29 participants Stage 2 treatment)