臨床研究等提出・公開システム

Date of registration	May. 10, 2024
Last modified on	Sept. 08, 2026
Trial ID	jRCT1050240030

Scientific Title	A Multicenter Multinational Observational Study of Children with Hypochondroplasia
Public Title	A Study to Assess Children with Hypochondroplasia

Contact for Scientific Queries	Name	Bassi Roberto
	Affiliation	BioMarin Pharmaceutical Inc.
	Address	105 Digital Drive Novato, CA, 94949 USA
	Telephone	1-415-455-7644
	E-mail	roberto.bassi@bmrn.com
Contact for Public Queries	Name	Clinical trial contact
	Affiliation	ICON Clinical Research GK
	Address	Kyutaromachi 4-chome 1-3, Chuo-ku, Osaka city, Osaka
	Telephone	+81-6-4560-2001
	E-mail	Japan-Chiken@iconplc.com

Recruitment status	Recruiting

Anticipated date of first enrollment		May. 13, 2024
Actual date of first enrollment		May. 21, 2024
Target sample size		27
Study Type		Observational
Study Design	allocation	single arm study
	masking	open(masking not used)
	control	uncontrolled control
	assignment	single assignment
	purpose	other
Key inclusion & exclusion 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
	Age Minimum	No limit
	Age Maximum	15age old under
	Gender	Both
Health Condition(s) or Problem(s) Studied		Hypochondroplasia
Primary Outcome(s)		- Change in annualized growth velocity (AGV) - Change in Height Z-score - Change in Height - Change in BMI - Change in BMI Z-score - Change in ratios of upper to lower body segments - Change in ratios of upper and lower leg length ratio - Change in ratio of arms span to standing height ratio
Secondary Outcome(s)		- Change in Quality of Life in Short Statured Youth (QoLISSY) physical domain - Change in Quality of Life in Short Statured Youth (QoLISSY) total score - Change in patient global impression of severity (PGI-S) - Change in caregiver global impression of severity (CaGI-S) - Frequency of event rates of medical events of interest - Proportion of children who report use of growth hormone, treatment patterns and impact on growth - Proportion of children who report limb lengthening surgery

Primary Sponsor	BioMarin Pharmaceutical Inc.

Secondary Sponsor

Name of Certified Review Board	Institutional Review Board of Osaka University Hospital
Address	2-15 Yamadaoka, Suita-shi, 565-0871, Japan, Osaka
Telephone	+81-6-6210-8290
E-Mail	jim-chiken@hp-crc.med.osaka-u.ac.jp
Approval Status	Approval
Date of approval	Mar. 12, 2024

Plan to share IPD	No

Secondary ID(s)	NCT06212947

Countries of Recruitment（Except Japan）	United States/Argentina/Australia/Brazil/Canada/France/Germany/Italy/Spain

History of Changes

No	Publication date
4	Sept. 08, 2026	(this page)	Changes
3	Oct. 03, 2024	Detail	Changes
2	June. 13, 2024	Detail	Changes
1	May. 10, 2024	Detail

List of change history