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NCT Number: NCT06212947

A Multicenter Multinational Observational Study of Children With Hypochondroplasia

This study will assess growth over time and the clinical course of HCH in children by collecting growth measurements and other variables of interest.

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Key information

Conditions

Hypochondroplasia

Age range

Up to 15 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital de Pediatria SAMIC Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Participants must be ≤ 15 years old at the time of signing the informed consent
  • Participants must have genetic confirmation of Hypochondroplasia diagnosis

Exclusion 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

Treatment and study plan

Primary outcomes

  1. Change in annualized growth velocity (AGV)

    Time frame: Every 6 months through end of study, up to 15 years

  2. Change in Height Z-score

    Time frame: Every 6 months through end of study, up to 15 years

  3. Change in Height

    Time frame: Every 6 months through end of study, up to 15 years

  4. Change in BMI

    Time frame: Every 6 months through end of study, up to 15 years

  5. Change in BMI Z-score

    Time frame: Every 6 months through end of study, up to 15 years

  6. Change in ratios of upper to lower body segments

    Time frame: Every 6 months through end of study, up to 15 years

  7. Change in ratios of upper and lower leg length ratio

    Time frame: Every 6 months through end of study, up to 15 years

  8. Change in ratio of arms span to standing height ratio

    Time frame: Every 6 months through end of study, up to 15 years

Secondary outcomes

  1. Change in Quality of Life in Short Statured Youth (QoLISSY) physical domain

    Time frame: Every 52 weeks through end of study, up to 15 years

  2. Change in Quality of Life in Short Statured Youth (QoLISSY) total score

    Time frame: Every 52 weeks through end of study, up to 15 years

  3. Change in patient global impression of severity (PGI-S)

    Time frame: Every 52 weeks through end of study, up to 15 years

  4. Change in caregiver global impression of severity (CaGI-S)

    Time frame: Every 52 weeks through end of study, up to 15 years

  5. Frequency of event rates of medical events of interest

    Time frame: Every 6 months through end of study, up to 15 years

  6. Proportion of children who report use of growth hormone, treatment patterns and impact on growth

    Time frame: Every 6 months through end of study, up to 15 years

  7. Proportion of children who report limb lengthening surgery

    Time frame: Every 6 months through end of study, up to 15 years

Study contacts

Contact information is provided by the study sponsor or research team.

Trial Specialist

CONTACT

[email protected]

1-800-983-4587

Sponsors and collaborators

Lead sponsor

BioMarin Pharmaceutical

Industry

Registry information

Important dates

Study start
2023
Primary completion
2043
Study completion
2043
First posted
Jan 19, 2024
Registry last updated
Apr 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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