AchondroplasiaNCT01603095
A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia
An observational study of Achondroplasia, run by BioMarin Pharmaceutical at 20 sites in 6 countries.
Trial summary
Multicenter, multinational study to collect consistent baseline growth measurements on pediatric patients with Achondroplasia being considered for subsequent enrollment in future studies sponsored by BioMarin. No study drug is administered. Read more about this study
- Who is it for?
- Ages Up to 17 years
- Conditions the study is for
- Achondroplasia
- How many people
- 363 participants
- Where
- 20 sitesin 6 countries
- Study dates
- Apr 2012to Feb 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: Approximately 500 patients will be enrolled. Patients from birth to <= 17 years, inclusive, on the date of consent will be enrolled. Approximately equal numbers of boys and girls will be enrolled.
Who may be able to join
- 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 <= 17 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.
Who cannot join
- 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
Show all 26Show fewer
- 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 angiotensin-converting enzyme (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
Trial locations and contacts
20 sites in 6 countries.
20 sites in 6 countries
United States9 sites
Ann and Robert H Lurie Children's Hospital of Chicago
Chicago, Illinois, 60614
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Emory University
Decatur, Georgia, 30033
Baylor College of Medicine
Houston, Texas, 77030
Harbor-UCLA Medical Center
Los Angeles, California, 90048
Medical College of Wisconsin, Children's Hospital
Milwaukee, Wisconsin, 53226
Vanderbilt University
Nashville, Tennessee, 37232
Children's Hospital and Research Center Oakland
Oakland, California, 94609
Nemours/Alfred I. duPont Hospital for Children
Wilmington, Delaware, 19803
Japan3 sites
Osaka University Hospital
Osaka
Saitama Children's Medical Center
Saitama
Tokushima University Hospital
Tokushima
Spain3 sites
Institut Catala de Traumatologica I Medicina de l'Esport
Barcelona, 08028
Hospital Sant Joan de Deu Barcelona
Barcelona, 08950
Hospital Universitario Virgen de la Victoria
Málaga, 29010
Australia2 sites
Murdoch Children's Research Institute
Parkville, Victoria, 3052
The Children's Hospital at Westmead
Westmead, 2145
United Kingdom2 sites
Guy's and St. Thomas NHS Foundation Trust Evelina Children's Hospital
London, SE1 9RT
Sheffield Children's NHS Foundation Trust
Sheffield, S10 2TH
Turkey (Türkiye)1 site
Acibadem University School of Medicine
Istanbul, 34752
About this study
Multicenter, multinational study to collect consistent baseline growth measurements on pediatric patients with Achondroplasia being considered for subsequent enrollment in future studies sponsored by BioMarin. No study drug is administered.
- Conditions
- Achondroplasia
- Keywords
- Achondroplasia, dwarfism
- Medical subject headings
- Achondroplasia, Dwarfism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Growth measurements | Approximately 500 patients will be enrolled. Patients from birth to <= 17 years on the date of consent will be enrolled. Approximately equal numbers of boys and girls will be enrolled. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Collection of consistent growth measurements
Patients will be screened and undergo a series of growth measurements on Day 1 and every 3 months thereafter. No study drug is administered.
Measured: Assessed every 3 months for up to 84 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 May 2012 (estimated)
- Study startApr 2012
- Primary completionFeb 2021
- Study completionFeb 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for AchondroplasiaStudies of the same condition, open and under way.
- More trials run by BioMarin PharmaceuticalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 363 participants (actual)
Sponsor and investigators
- Lead sponsor
- BioMarin Pharmaceutical
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, MD, Study director, BioMarin Pharmaceutical
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01603095
- Sponsor's protocol ID
- 111-901
- Other IDs
- 2017-000701-21, 2017
- Status last verified
- Apr 2021
- First submitted
- 11 May 2012
- Last updated
- 13 Apr 2021
- Results posted
- No
- Data monitoring committee
- No
Publications
Savarirayan R, Irving M, Wilcox WR, Bacino CA, Hoover-Fong JE, Harmatz P, Polgreen LE, Palm K, Prada CE, Kubota T, Arundel P, Kotani Y, Leiva-Gea A, Bober MB, Hecht JT, Legare JM, Lawrinson S, Low A, Sabir I, Huntsman-Labed A, Day JRS. Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study. Med. 2025 May 9;6(5):100566. doi: 10.1016/j.medj.2024.11.019. Epub 2024 Dec 30.
PubMed 39740666Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang KH, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Genet Med. 2022 Dec;24(12):2444-2452. doi: 10.1016/j.gim.2022.08.015. Epub 2022 Sep 16.
PubMed 36107167Chan ML, Qi Y, Larimore K, Cherukuri A, Seid L, Jayaram K, Jeha G, Fisheleva E, Day J, Huntsman-Labed A, Savarirayan R, Irving M, Bacino CA, Hoover-Fong J, Ozono K, Mohnike K, Wilcox WR, Horton WA, Henshaw J. Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia. Clin Pharmacokinet. 2022 Feb;61(2):263-280. doi: 10.1007/s40262-021-01059-1. Epub 2021 Aug 25.
PubMed 34431071Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong J. C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. N Engl J Med. 2019 Jul 4;381(1):25-35. doi: 10.1056/NEJMoa1813446. Epub 2019 Jun 18.
PubMed 31269546
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia
- ClinicalTrials.gov ID
- NCT01603095
- Acronym / sponsor ID
- 111-901
- Conditions
- Achondroplasia
- Keywords
- Achondroplasia, dwarfism
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 363 participants (actual)
- Lead sponsor
- BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
- Study start
- Apr 2012
- Primary completion
- Feb 2021 (actual)
- Study completion
- Feb 2021 (actual)
- First posted
- 22 May 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Multicenter, multinational study to collect consistent baseline growth measurements on pediatric patients with Achondroplasia being considered for subsequent enrollment in future studies sponsored by BioMarin. No study drug is administered.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Growth measurements | – | –Approximately 500 patients will be enrolled. Patients from birth to <= 17 years on the date of consent will be enrolled. Approximately equal numbers of boys and girls will be enrolled. |
Who may qualify
- Ages
- Up to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Approximately 500 patients will be enrolled. Patients from birth to <= 17 years, inclusive, on the date of consent will be enrolled. Approximately equal numbers of boys and girls will be enrolled.
Key inclusion criteria (5 listed)
- 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 <= 17 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.
Key exclusion criteria (26 listed)
- Have hypochondroplasia or short stature condition other than ACH (e.g., trisomy 21, pseudoachondroplasia)
- Have any of the following disorders:
- 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:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Collection of consistent growth measurements
Time frame: Assessed every 3 months for up to 84 months
Patients will be screened and undergo a series of growth measurements on Day 1 and every 3 months thereafter. No study drug is administered.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Apr 2021.
- Derived from this study: PubMed 39740666Savarirayan R, Irving M, Wilcox WR, Bacino CA, Hoover-Fong JE, Harmatz P, Polgreen LE, Palm K, Prada CE, Kubota T, Arundel P, Kotani Y, Leiva-Gea A, Bober MB, Hecht JT, Legare JM, Lawrinson S, Low A, Sabir I, Huntsman-Labed A, Day JRS. Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study. Med. 2025 May 9;6(5):100566. doi: 10.1016/j.medj.2024.11.019. Epub 2024 Dec 30.
- Derived from this study: PubMed 36107167Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang KH, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J. Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Genet Med. 2022 Dec;24(12):2444-2452. doi: 10.1016/j.gim.2022.08.015. Epub 2022 Sep 16.
- Derived from this study: PubMed 34431071Chan ML, Qi Y, Larimore K, Cherukuri A, Seid L, Jayaram K, Jeha G, Fisheleva E, Day J, Huntsman-Labed A, Savarirayan R, Irving M, Bacino CA, Hoover-Fong J, Ozono K, Mohnike K, Wilcox WR, Horton WA, Henshaw J. Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia. Clin Pharmacokinet. 2022 Feb;61(2):263-280. doi: 10.1007/s40262-021-01059-1. Epub 2021 Aug 25.
- Derived from this study: PubMed 31269546Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong J. C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. N Engl J Med. 2019 Jul 4;381(1):25-35. doi: 10.1056/NEJMoa1813446. Epub 2019 Jun 18.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Director, MD study director
BioMarin Pharmaceutical
20 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Achondroplasia, run by BioMarin Pharmaceutical at 20 sites in 6 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 26 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Apr 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 20 sites in United States, Japan, Spain, Australia, United Kingdom and 1 more country. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collection of consistent growth measurements (time frame: Assessed every 3 months for up to 84 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01603095, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Apr 2021.