OBS16647

• Research type

  Research Study

• Full title

  OBS16647 - a longitudal study to evaluate growth measurements and digital biomarkers in paediatric participants with achondroplasia.

• IRAS ID

  322181

• Contact name

  Melita Irving

• Contact email

  melita.irving@gstt.nhs.uk

• Sponsor organisation

  Sanofi

• Clinicaltrials.gov Identifier

  151799, IND; U1111-1267-9080, WHO

• Duration of Study in the UK

  2 years, 0 months, 0 days

• Research summary

  Research Summary:
  Achondroplasia is a genetic condition that people are born with. In most patients, it is caused by a mutation (change) in a gene called “FGFR3.” The mutation affects bone growth of the skull, spine, arms, and legs, resulting in short stature, difficulty walking, and often frequent ear infections and back pain. More serious effects may include enlarged tonsils, breathing problems while sleeping, called “sleep apnea,” or enlarged ventricles in the brain, all of which may
  require surgery.
  The purpose of this study is to collect information about the child’s condition and related history to obtain a good understanding about the rate at which children with achondroplasia grow, their activity levels, gait, and breathing during sleep, without any study medications.
  During this study no study drug will be prescribed outside of the normal medical care for your child’s condition. The child may be eligible for participation in an interventional drug trial after completion of this longitudinal study. If that is the case, the growth data obtained from children participating in this longitudinal study will be used to define baseline growth for the interventional drug trial. The study will be conducted in participants between the ages of birth to 10 years
  with achondroplasia.
  It will last approximately 24 weeks but for participants under the age of 3 years at the time of enrollment into this study and who plan to enroll into an eligible interventional drug trial, a study duration of 12
  weeks is allowed because they are younger and stand to benefit more from a study drug. It is planned to include approximately 50 participants and be conducted in North America, Europe, Asia, and Australia.

  Summary of Results:
  Background: Achondroplasia is the most common form of dwarfism, caused by a genetic change that affects bone growth. This study was designed to understand how children with achondroplasia grow and develop over time, without testing any medications.

  What the Study Did:

  Collected measurements of children's growth Tracked physical activity and walking patterns in children aged 3 and older Monitored sleep patterns in children aged 3 and older Assessed quality of life in children aged 2 and older Recorded developmental milestones in younger children

  Who Participated:

  37 children were screened for the study
  35 children were enrolled
  The study included children from birth to under 11 years old Participants came from centers in Asia-Pacific, Europe, Middle East, Africa, United States, and United Kingdom

  Main Findings:

  1) Growth Rate (called Annualized Growth Velocity or AGV):

  At 12 weeks: average growth rate was 5.06 centimeters per year At 24 weeks: average growth rate was 4.65 centimeters per year Growth patterns varied among different age groups

  2) Safety Information:

  12 children reported at least one health issue during the study Two children experienced foramen magnum stenosis (narrowing of the opening at the base of the skull) Most common health issues were infections and breathing-related problems One child experienced sleep apnea (breathing problems during sleep)

  Early End of Study: The study was stopped earlier than planned because another related study showed low effectiveness in improving growth rates. Of the 35 enrolled children:

  24 children (68.6%) completed their planned study period
  11 children (31.4%) did not complete the study
  10 children stopped due to the study being terminated
  1 child withdrew from the study

  All children were reported to be alive at their last contact with the study team.

  This summary is based on results from a clinical study report dated April 24, 2025. The study was registered with the World Health Organization's registry platform under number U1111-1267-9080.
  

• REC name

  West Midlands - South Birmingham Research Ethics Committee

• REC reference

  23/WM/0010

• Date of REC Opinion

  27 Jun 2023

• REC opinion

  Further Information Favourable Opinion