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

NCT ID: NCT01603095

Last Updated: 2021-04-13

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 363 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2012-04-30
• Study Completion Date: 2021-02-28

Brief 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.

Conditions

Achondroplasia

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Study Groups

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.

No interventions assigned to this group

Eligibility Criteria

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 <= 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.

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 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

• Maximum Eligible Age: 17 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

BioMarin Pharmaceutical

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Medical Director, MD

Role: STUDY_DIRECTOR

BioMarin Pharmaceutical

Locations

Harbor-UCLA Medical Center

Los Angeles, California, United States

Children's Hospital and Research Center Oakland

Oakland, California, United States

Nemours/Alfred I. duPont Hospital for Children

Wilmington, Delaware, United States

Emory University

Decatur, Georgia, United States

Ann and Robert H Lurie Children's Hospital of Chicago

Chicago, Illinois, United States

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Vanderbilt University

Nashville, Tennessee, United States

Baylor College of Medicine

Houston, Texas, United States

Medical College of Wisconsin, Children's Hospital

Milwaukee, Wisconsin, United States

Murdoch Children's Research Institute

Parkville, Victoria, Australia

The Children's Hospital at Westmead

Westmead, , Australia

Osaka University Hospital

Osaka, , Japan

Saitama Children's Medical Center

Saitama, , Japan

Tokushima University Hospital

Tokushima, , Japan

Institut Catala de Traumatologica I Medicina de l'Esport

Barcelona, , Spain

Hospital Sant Joan de Deu Barcelona

Barcelona, , Spain

Hospital Universitario Virgen de la Victoria

Málaga, , Spain

Acibadem University School of Medicine

Istanbul, , Turkey (Türkiye)

Guy's and St. Thomas NHS Foundation Trust Evelina Children's Hospital

London, , United Kingdom

Sheffield Children's NHS Foundation Trust

Sheffield, , United Kingdom

Countries

United States; Australia; Japan; Spain; Turkey (Türkiye); United Kingdom

References

Savarirayan 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.

Reference Type: DERIVED

PMID: 36107167 (View on PubMed)

Chan 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.

Reference Type: DERIVED

PMID: 34431071 (View on PubMed)

Savarirayan 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.

Reference Type: DERIVED

PMID: 31269546 (View on PubMed)

Other Identifiers

2017-000701-21

Identifier Type: EUDRACT_NUMBER

Identifier Source: secondary_id

111-901

Identifier Type: -

Identifier Source: org_study_id