A Study to Assess Children with Hypochondroplasia

JRCT ID: jRCT1050240030

Registered date:10/05/2024

Basic Information

• Recruitment status: Recruiting
• Health condition(s) or Problem(s) studied: Hypochondroplasia
• Date of first enrollment: 21/05/2024
• Target sample size: 27
• Countries of recruitment: United States,Japan,Argentina,Japan,Australia,Japan,Brazil,Japan,Canada,Japan,France,Japan,Germany,Japan,Italy,Japan,Spain,Japan
• Study type: Observational

Outcome(s)

Primary Outcome

- Change in annualized growth velocity (AGV)
- Change in Height Z-score
- Change in Height
- Change in BMI
- Change in BMI Z-score
- Change in ratios of upper to lower body segments
- Change in ratios of upper and lower leg length ratio
- Change in ratio of arms span to standing height ratio

Secondary Outcome

- Change in Quality of Life in Short Statured Youth (QoLISSY) physical domain
- Change in Quality of Life in Short Statured Youth (QoLISSY) total score
- Change in patient global impression of severity (PGI-S)
- Change in caregiver global impression of severity (CaGI-S)
- Frequency of event rates of medical events of interest
- Proportion of children who report use of growth hormone, treatment patterns and impact on growth
- Proportion of children who report limb lengthening surgery

Key inclusion & exclusion criteria

• Age minimum: Not applicable
• Age maximum: <= 15age old
• Gender: Both

Include criteria

- Participants must be =< 15 years old at the time of signing the informed consent
- Participants must have genetic confirmation of Hypochondroplasia diagnosis

Exclude criteria

- Have a diagnosis of another genetic short stature condition other than Hypochondroplasia or a genetic variant known to cause another genetic syndrome associated with short stature
- Received an investigational product or medical device within 6 months before the Screening visit

Related Information

• Primary Sponsor: Bassi Roberto
• Secondary ID(s): NCT06212947