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

NCT01603095 | Completed

• 2 other identifiers: 111-9012017-000701-21
• Study Type: observational
• Target: 363
• Locations: 6 countries
• Sites: 20

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

Keywords

Achondroplasia; dwarfism

Outcome Measures

Primary Outcomes (1)

• 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.

  Assessed every 3 months for up to 84 months

Study Arms (1)

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.

Eligibility Criteria

• Age: Up to 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

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.

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• BioMarin Pharmaceutical: lead

Study Sites (20)

Harbor-UCLA Medical Center

Los Angeles, California, 90048, United States

Location

Children's Hospital and Research Center Oakland

Oakland, California, 94609, United States

Location

Nemours/Alfred I. duPont Hospital for Children

Wilmington, Delaware, 19803, United States

Location

Emory University

Decatur, Georgia, 30033, United States

Location

Ann and Robert H Lurie Children's Hospital of Chicago

Chicago, Illinois, 60614, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Vanderbilt University

Nashville, Tennessee, 37232, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

Medical College of Wisconsin, Children's Hospital

Milwaukee, Wisconsin, 53226, United States

Location

Murdoch Children's Research Institute

Parkville, Victoria, 3052, Australia

Location

The Children's Hospital at Westmead

Westmead, 2145, Australia

Location

Osaka University Hospital

Osaka, Japan

Location

Saitama Children's Medical Center

Saitama, Japan

Location

Tokushima University Hospital

Tokushima, Japan

Location

Institut Catala de Traumatologica I Medicina de l'Esport

Barcelona, 08028, Spain

Location

Hospital Sant Joan de Deu Barcelona

Barcelona, 08950, Spain

Location

Hospital Universitario Virgen de la Victoria

Málaga, 29010, Spain

Location

Acibadem University School of Medicine

Istanbul, 34752, Turkey (Türkiye)

Location

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

London, SE1 9RT, United Kingdom

Location

Sheffield Children's NHS Foundation Trust

Sheffield, S10 2TH, United Kingdom

Location

Related Publications (3)

• 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.

  PMID: 36107167 DERIVED

• 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.

  PMID: 34431071 DERIVED

• 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.

  PMID: 31269546 DERIVED

MeSH Terms

Conditions

Achondroplasia; Dwarfism

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases

Study Officials

• Medical Director, MD

  BioMarin Pharmaceutical

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 11, 2012
• First Posted: May 22, 2012
• Study Start: April 1, 2012
• Primary Completion: February 1, 2021
• Study Completion: February 1, 2021
• Last Updated: April 13, 2021

Record last verified: 2021-04

Locations

JP (3); GB (2); ES (3); TU (1); US (9); AU (2)