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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT06212947




Registration number
NCT06212947
Ethics application status
Date submitted
14/12/2023
Date registered
19/01/2024
Date last updated
19/09/2024

Titles & IDs
Public title
A Multicenter Multinational Observational Study of Children With Hypochondroplasia
Scientific title
A Multicenter Multinational Observational Study of Children With Hypochondroplasia
Secondary ID [1] 0 0
111-902
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Hypochondroplasia 0 0
Condition category
Condition code
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders
Metabolic and Endocrine 0 0 0 0
Other endocrine disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Musculoskeletal 0 0 0 0
Normal musculoskeletal and cartilage development and function
Reproductive Health and Childbirth 0 0 0 0
Complications of newborn

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Children with Hypochondroplasia - Children with Hypochondroplasia
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Change in annualized growth velocity (AGV)
Timepoint [1] 0 0
Every 6 months through end of study, up to 15 years
Primary outcome [2] 0 0
Change in Height Z-score
Timepoint [2] 0 0
Every 6 months through end of study, up to 15 years
Primary outcome [3] 0 0
Change in Height
Timepoint [3] 0 0
Every 6 months through end of study, up to 15 years
Primary outcome [4] 0 0
Change in BMI
Timepoint [4] 0 0
Every 6 months through end of study, up to 15 years
Primary outcome [5] 0 0
Change in BMI Z-score
Timepoint [5] 0 0
Every 6 months through end of study, up to 15 years
Primary outcome [6] 0 0
Change in ratios of upper to lower body segments
Timepoint [6] 0 0
Every 6 months through end of study, up to 15 years
Primary outcome [7] 0 0
Change in ratios of upper and lower leg length ratio
Timepoint [7] 0 0
Every 6 months through end of study, up to 15 years
Primary outcome [8] 0 0
Change in ratio of arms span to standing height ratio
Timepoint [8] 0 0
Every 6 months through end of study, up to 15 years
Secondary outcome [1] 0 0
Change in Quality of Life in Short Statured Youth (QoLISSY) physical domain
Timepoint [1] 0 0
Every 52 weeks through end of study, up to 15 years
Secondary outcome [2] 0 0
Change in Quality of Life in Short Statured Youth (QoLISSY) total score
Timepoint [2] 0 0
Every 52 weeks through end of study, up to 15 years
Secondary outcome [3] 0 0
Change in patient global impression of severity (PGI-S)
Timepoint [3] 0 0
Every 52 weeks through end of study, up to 15 years
Secondary outcome [4] 0 0
Change in caregiver global impression of severity (CaGI-S)
Timepoint [4] 0 0
Every 52 weeks through end of study, up to 15 years
Secondary outcome [5] 0 0
Frequency of event rates of medical events of interest
Timepoint [5] 0 0
Every 6 months through end of study, up to 15 years
Secondary outcome [6] 0 0
Proportion of children who report use of growth hormone, treatment patterns and impact on growth
Timepoint [6] 0 0
Every 6 months through end of study, up to 15 years
Secondary outcome [7] 0 0
Proportion of children who report limb lengthening surgery
Timepoint [7] 0 0
Every 6 months through end of study, up to 15 years

Eligibility
Key inclusion criteria
* Participants must be = 15 years old at the time of signing the informed consent
* Participants must have genetic confirmation of Hypochondroplasia diagnosis
Minimum age
No limit
Maximum age
15 Years
Sex
Both males and females
Can healthy volunteers participate?
No
Key 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

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
27/11/2023
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
31/12/2043
Actual
Sample size
Target
400
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
Royal Children's Hospital Melbourne - Parkville
Recruitment postcode(s) [1] 0 0
3052 - Parkville
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Arizona
Country [2] 0 0
United States of America
State/province [2] 0 0
California
Country [3] 0 0
United States of America
State/province [3] 0 0
Delaware
Country [4] 0 0
United States of America
State/province [4] 0 0
District of Columbia
Country [5] 0 0
United States of America
State/province [5] 0 0
Illinois
Country [6] 0 0
United States of America
State/province [6] 0 0
Maryland
Country [7] 0 0
United States of America
State/province [7] 0 0
Massachusetts
Country [8] 0 0
United States of America
State/province [8] 0 0
Minnesota
Country [9] 0 0
United States of America
State/province [9] 0 0
Missouri
Country [10] 0 0
United States of America
State/province [10] 0 0
New York
Country [11] 0 0
United States of America
State/province [11] 0 0
Ohio
Country [12] 0 0
United States of America
State/province [12] 0 0
Texas
Country [13] 0 0
United States of America
State/province [13] 0 0
Wisconsin
Country [14] 0 0
Argentina
State/province [14] 0 0
Buenos Aires
Country [15] 0 0
Brazil
State/province [15] 0 0
Rio Grande Do Sol
Country [16] 0 0
Brazil
State/province [16] 0 0
Sao Paulo
Country [17] 0 0
Canada
State/province [17] 0 0
Alberta
Country [18] 0 0
Canada
State/province [18] 0 0
Ontario
Country [19] 0 0
Canada
State/province [19] 0 0
Quebec
Country [20] 0 0
France
State/province [20] 0 0
Lyon
Country [21] 0 0
France
State/province [21] 0 0
Marseille
Country [22] 0 0
France
State/province [22] 0 0
Paris
Country [23] 0 0
France
State/province [23] 0 0
Toulouse
Country [24] 0 0
Germany
State/province [24] 0 0
Köln
Country [25] 0 0
Germany
State/province [25] 0 0
Magdeburg
Country [26] 0 0
Italy
State/province [26] 0 0
Liguria
Country [27] 0 0
Italy
State/province [27] 0 0
Rome
Country [28] 0 0
Italy
State/province [28] 0 0
Milan
Country [29] 0 0
Japan
State/province [29] 0 0
Osaka
Country [30] 0 0
Japan
State/province [30] 0 0
Tottori
Country [31] 0 0
Japan
State/province [31] 0 0
Kumamoto
Country [32] 0 0
Japan
State/province [32] 0 0
Tokushima
Country [33] 0 0
Japan
State/province [33] 0 0
Tokyo
Country [34] 0 0
Spain
State/province [34] 0 0
Madrid
Country [35] 0 0
Spain
State/province [35] 0 0
Vitoria
Country [36] 0 0
United Kingdom
State/province [36] 0 0
England
Country [37] 0 0
United Kingdom
State/province [37] 0 0
Scottland

Funding & Sponsors
Primary sponsor type
Commercial sector/industry
Name
BioMarin Pharmaceutical
Address
Country

Ethics approval
Ethics application status

Summary
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.
Trial website
https://clinicaltrials.gov/study/NCT06212947
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Medical Director, MD
Address 0 0
BioMarin Pharmaceutical
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Trial Specialist
Address 0 0
Country 0 0
Phone 0 0
1-800-938-4587
Fax 0 0
Email 0 0
[email protected]
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT06212947