Clinical trial NCT06212947: A Multicenter Multinational Observational Study of Children With Hypochondroplasia
Official title: A Multicenter Multinational Observational Study of Children With Hypochondroplasia
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Hypochondroplasia
Lead sponsor: BioMarin Pharmaceutical
Sponsor class: INDUSTRY
First posted: 2024-01-19
Enrollment: 400
Sex: ALL
Maximum age (years): 15
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population will include approximately 400 pediatric individuals with hypochondroplasia.

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


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

Primary outcomes:
measure: Change in annualized growth velocity (AGV)
timeFrame: Every 6 months through end of study, up to 15 years
measure: Change in Height Z-score
timeFrame: Every 6 months through end of study, up to 15 years
measure: Change in Height
timeFrame: Every 6 months through end of study, up to 15 years
measure: Change in BMI
timeFrame: Every 6 months through end of study, up to 15 years
measure: Change in BMI Z-score
timeFrame: Every 6 months through end of study, up to 15 years
measure: Change in ratios of upper to lower body segments
timeFrame: Every 6 months through end of study, up to 15 years
measure: Change in ratios of upper and lower leg length ratio
timeFrame: Every 6 months through end of study, up to 15 years
measure: Change in ratio of arms span to standing height ratio
timeFrame: Every 6 months through end of study, up to 15 years
Secondary outcomes:
measure: Change in Quality of Life in Short Statured Youth (QoLISSY) physical domain
timeFrame: Every 52 weeks through end of study, up to 15 years
measure: Change in Quality of Life in Short Statured Youth (QoLISSY) total score
timeFrame: Every 52 weeks through end of study, up to 15 years
measure: Change in patient global impression of severity (PGI-S)
timeFrame: Every 52 weeks through end of study, up to 15 years
measure: Change in caregiver global impression of severity (CaGI-S)
timeFrame: Every 52 weeks through end of study, up to 15 years
measure: Frequency of event rates of medical events of interest
timeFrame: Every 6 months through end of study, up to 15 years
measure: Proportion of children who report use of growth hormone, treatment patterns and impact on growth
timeFrame: Every 6 months through end of study, up to 15 years
measure: Proportion of children who report limb lengthening surgery
timeFrame: Every 6 months through end of study, up to 15 years
Other outcomes:
Locations:
city: Phoenix
country: United States
facility: Phoenix Children's Hospital
state: Arizona
city: Los Angeles
country: United States
facility: Cedars-Sinai Medical Center
state: California
city: Oakland
country: United States
facility: UCSF Benioff Children's Hospital
state: California
city: Wilmington
country: United States
facility: Nemours Alfred I. Dupont Hospital for Children
state: Delaware
city: Washington
country: United States
facility: Children's National Health System
state: District of Columbia
city: Chicago
country: United States
facility: Ann & Robert H. Lurie Children's Hospital of Chicago
state: Illinois
city: Baltimore
country: United States
facility: The Johns Hopkins University School of Medicine
state: Maryland
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Minneapolis
country: United States
facility: University of Minnesota Masonic Children's Hospital
state: Minnesota
city: Columbia
country: United States
facility: University of Missouri
state: Missouri
city: Saint Louis
country: United States
facility: Washington University School of Medicine in St. Louis
state: Missouri
city: New York
country: United States
facility: Mount Sinai Kravis Children's Hospital
state: New York
city: Akron
country: United States
facility: Akron Children's Hospital
state: Ohio
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
city: Fort Worth
country: United States
facility: Cook Children's Endocrinology
state: Texas
city: Milwaukee
country: United States
facility: Medical College of Wisconsin, Children's Hospital
state: Wisconsin
city: Buenos Aires
country: Argentina
facility: Hospital de Pediatria SAMIC Prof. Dr. Juan P Garrahan
city: Parkville
country: Australia
facility: Royal Children's Hospital Melbourne
state: Victoria
city: Porto Alegre
country: Brazil
facility: Hospital de Clinicas de Porto Algre
state: Rio Grande do Sol
city: Ribeirão Preto
country: Brazil
facility: Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto
state: Sao Paulo
city: Edmonton
country: Canada
facility: Stollery Children's Hospital
state: Alberta
city: Toronto
country: Canada
facility: SickKids - The Hospital for Sick Children
state: Ontario
city: Montréal
country: Canada
facility: Centre Hospitalier Universitaire Sainte-Justine
state: Quebec
city: Lyon
country: France
facility: Hospices Civils de Lyon - Hôpital Femme Mère Enfant
city: Marseille
country: France
facility: Hopital de la Timone
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
city: Toulouse
country: France
facility: CHU de Toulouse - Hopital des Efants
city: Köln
country: Germany
facility: Uniklinik Koln
city: Magdeburg
country: Germany
facility: Universitatskinderklinik Magdeburg
city: Genoa
country: Italy
facility: Istituto Giannina Gaslini
state: Liguria
city: Roma
country: Italy
facility: Ospedale Pediatrico Bambino Gesù
state: Rome
city: Milan
country: Italy
facility: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
city: Rome
country: Italy
facility: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
city: Suita
country: Japan
facility: Osaka University Hospital
state: Osaka
city: Yonago
country: Japan
facility: Tottori University Hospital
state: Tottori
city: Kumamoto
country: Japan
facility: Kumamoto University Hospital
city: Tokushima
country: Japan
facility: Tokushima University Hospital
city: Tokyo
country: Japan
facility: Institute of Science Tokyo Hospital
city: Madrid
country: Spain
facility: Hospital Universitario La Paz
city: Vitoria
country: Spain
facility: Vithas Hospital San Jose
city: London
country: United Kingdom
facility: Great Ormond Street Hospital for Children NHS Foundation Trust
state: England
city: London
country: United Kingdom
facility: Myriad Trials Ltd
state: England
city: Glasgow
country: United Kingdom
facility: NHS Greater Glasgow and Clyde
state: Scottland
Study officials:
affiliation: BioMarin Pharmaceutical
name: Medical Director, MD
role: STUDY_DIRECTOR
References: