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Recruiting NCT06212947

A Multicenter Multinational Observational Study of Children With Hypochondroplasia

— Observational Hypochondroplasia

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Hypochondroplasia. Basic parameters: up to 15 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States, Argentina, Australia, Brazil, Canada +6
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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

Primary outcome measures

  • Change in annualized growth velocity (AGV) [Time frame: Every 6 months through end of study, up to 15 years]
  • Change in Height Z-score [Time frame: Every 6 months through end of study, up to 15 years]
  • Change in Height [Time frame: Every 6 months through end of study, up to 15 years]
  • Change in BMI [Time frame: Every 6 months through end of study, up to 15 years]
  • Change in BMI Z-score [Time frame: Every 6 months through end of study, up to 15 years]
  • Change in ratios of upper to lower body segments [Time frame: Every 6 months through end of study, up to 15 years]
  • Change in ratios of upper and lower leg length ratio [Time frame: Every 6 months through end of study, up to 15 years]
  • Change in ratio of arms span to standing height ratio [Time frame: Every 6 months through end of study, up to 15 years]
Secondary outcome measures (7)
  • 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]
  • 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]
  • Change in patient global impression of severity (PGI-S) [Time frame: Every 52 weeks through end of study, up to 15 years]
  • Change in caregiver global impression of severity (CaGI-S) [Time frame: Every 52 weeks through end of study, up to 15 years]
  • Frequency of event rates of medical events of interest [Time frame: Every 6 months through end of study, up to 15 years]
  • 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]
  • Proportion of children who report limb lengthening surgery [Time frame: Every 6 months through end of study, up to 15 years]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 16 centers
  • Phoenix Children's Hospital — Phoenix
  • Cedars-Sinai Medical Center — Los Angeles
  • UCSF Benioff Children's Hospital — Oakland
  • Nemours Alfred I. Dupont Hospital for Children — Wilmington
  • Children's National Health System — Washington D.C.
  • Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago
  • The Johns Hopkins University School of Medicine — Baltimore
  • Boston Children's Hospital — Boston
  • … and 8 more centers
Japan · 5 centers
  • Kumamoto University Hospital — Kumamoto
  • Osaka University Hospital — Suita
  • Tottori University Hospital — Yonago
  • Tokushima University Hospital — Tokushima
  • Institute of Science Tokyo Hospital — Tokyo
France · 4 centers
  • Hospices Civils de Lyon - Hôpital Femme Mère Enfant — Lyon
  • Hopital de la Timone — Marseille
  • Hôpital Necker-Enfants Malades — Paris
  • CHU de Toulouse - Hopital des Efants — Toulouse
Italy · 4 centers
  • Istituto Giannina Gaslini — Genoa
  • Ospedale Pediatrico Bambino Gesù — Roma
  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico — Milan
  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS — Rome
Canada · 3 centers
  • Stollery Children's Hospital — Edmonton
  • SickKids - The Hospital for Sick Children — Toronto
  • Centre Hospitalier Universitaire Sainte-Justine — Montreal
United Kingdom · 3 centers
  • Great Ormond Street Hospital for Children NHS Foundation Trust — London
  • Myriad Trials Ltd — London
  • NHS Greater Glasgow and Clyde — Glasgow
Brazil · 2 centers
  • Hospital de Clinicas de Porto Algre — Porto Alegre
  • Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto — Ribeirão Preto
Germany · 2 centers
  • Uniklinik Koln — Cologne
  • Universitatskinderklinik Magdeburg — Magdeburg
Spain · 2 centers
  • Hospital Universitario La Paz — Madrid
  • Vithas Hospital San Jose — Vitoria-Gasteiz
Argentina · 1 center
  • Hospital de Pediatria SAMIC Prof. Dr. Juan P Garrahan — Buenos Aires
Australia · 1 center
  • Royal Children's Hospital Melbourne — Parkville

Identifiers

NCT: NCT06212947 · 111-902

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗