A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia

This study is enrolling participants by invitation only.
Information provided by (Responsible Party):
BioMarin Pharmaceutical
ClinicalTrials.gov Identifier:
First received: May 11, 2012
Last updated: July 28, 2015
Last verified: July 2015
Multicenter, multinational study to collect consistent baseline growth measurements on pediatric patients with Achondroplasia being considered for subsequent enrollment in Study 111-202. No study drug is administered.


Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia

Resource links provided by NLM:

Further study details as provided by BioMarin Pharmaceutical:

Primary Outcome Measures:
  • Collection of consistent growth measurements [ Time Frame: Assessed every 3 months for up to 60 months ] [ Designated as safety issue: No ]
    Patients will be screened and undergo a series of growth measurements on Day 1 and every 3 months thereafter. No study drug is administered.

Estimated Enrollment: 200
Study Start Date: April 2012
Estimated Study Completion Date: November 2017
Estimated Primary Completion Date: May 2017 (Final data collection date for primary outcome measure)
Growth measurements
Approximately 200 patients aged 0-13.5 will be enrolled. Approximately equal numbers of boys and girls will be enrolled.


Ages Eligible for Study:   up to 13 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
200 boys and girls with achondroplasia aged 0-13.5 will be enrolled

Inclusion Criteria:

  • Parent(s) or guardian(s) willing and able to provide signed informed consent after the nature of the study has been explained and prior to performance of any research-related procedure. Also, willing and able to provide written assent (as needed) after the nature of the study has been explained and prior to performance of any research-related procedure.
  • Aged 0 to 13.5 years, inclusive, at study entry
  • Have ACH, documented by clinical diagnosis
  • Are ambulatory and able to stand without assistance (not applicable for infants)
  • Are willing and able to perform all study procedures as physically possible.

Exclusion Criteria:

  • Have hypochondroplasia or short stature condition other than ACH (e.g., trisomy 21, pseudoachondroplasia)
  • Have any of the following disorders:

    • Hypothyroidism
    • Insulin-requiring diabetes mellitus
    • Autoimmune inflammatory disease
    • Inflammatory bowel disease
    • Autonomic neuropathy
  • Have an unstable clinical condition likely to lead to intervention during the course of the study, including progressive cervical medullary compression
  • Growth plates have fused
  • Have a history of any of the following:

    • Renal insufficiency
    • Anemia
  • Cardiac or vascular disease, including the following:

    • Cardiac dysfunction (abnormal echocardiogram [ECHO] including left ventricle [LV] mass) at Screening Visit
    • Hypertrophic cardiomyopathy
    • Congenital heart disease
    • Cerebrovascular disease, aortic insufficiency
    • Clinically significant atrial or ventricular arrhythmias
  • Current treatment with antihypertensive medications, ACE inhibitors, angiotensin II receptor blockers, diuretics, beta-blockers, calcium-channel blockers, cardiac glycosides, systemic anticholinergic agents, any medication that may impair or enhance compensatory tachycardia, drugs known to alter renal function that is expected to continue for the duration of the study
  • Have been treated with growth hormone, insulin-like growth factor 1 (IGF-1), or anabolic steroids in the previous 6 months or long-term treatment (> 3 months) at any time
  • Have had regular long-term treatment (> 1 month) with oral corticosteroids (low-dose ongoing inhaled steroid for asthma is acceptable)
  • Concomitant medication that prolongs the QT/QTc interval within 14 days or 5 half-lives, whichever is longer, before the Screening visit
  • Have used any other investigational product or investigational medical device for the treatment of ACH or short stature
  • Have had bone-related surgery or expected to have bone-related surgery during the study period. Subjects with previous limb-lengthening surgery may enroll if surgery occurred at least 18 months prior to the study and healing is complete without sequelae.
  • Have any condition that, in the view of the Investigator, places the patient at high risk of poor compliance with the visit schedule or of not completing the study.
  • Concurrent disease or condition that, in the view of the Investigator, would interfere with study participation
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01603095

United States, California
Harbor-UCLA Medical Center
Los Angeles, California, United States, 90048
Children's Hospital and Research Center Oakland
Oakland, California, United States, 94609
United States, Illinois
Ann and Robert H Lurie Children's Hospital of Chicago
Chicago, Illinois, United States, 60614
United States, Maryland
Johns Hopkins McKusick- Institute of Genetic Medicine
Baltimore, Maryland, United States, 21287
United States, Tennessee
Vanderbilt University
Nashville, Tennessee, United States, 37232
United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030
Australia, Victoria
Murdoch Children's Research Institute
Parkville, Victoria, Australia, 3052
Institut Necker
Paris, France, 75015
United Kingdom
Guy's and St. Thomas NHS Foundation Trust Evelina Children's Hospital
London, England, United Kingdom, SE1 9RT
Sponsors and Collaborators
BioMarin Pharmaceutical
Study Director: Medical Director, MD BioMarin Pharmaceutical
  More Information

No publications provided

Responsible Party: BioMarin Pharmaceutical
ClinicalTrials.gov Identifier: NCT01603095     History of Changes
Other Study ID Numbers: BMN 111-901 
Study First Received: May 11, 2012
Last Updated: July 28, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by BioMarin Pharmaceutical:

Additional relevant MeSH terms:
Bone Diseases
Bone Diseases, Developmental
Genetic Diseases, Inborn
Musculoskeletal Diseases

ClinicalTrials.gov processed this record on February 04, 2016