Trial Review

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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
Trial website
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

No information has been provided regarding IPD availability


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

No documents have been uploaded by study researchers.

Results not provided in https://clinicaltrials.gov/study/NCT06212947