Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia.

An International, Prospective Registry Investigating the Natural History of Participants With Achondroplasia

This is a registry study in children with achondroplasia, age 0-10 years, to be conducted at multiple clinical centers in several countries. Information collected will include in anthropometric characteristics, related symptoms, tests, & treatments

Children's information will be collected in the registry for a maximum of 5 years.

Study Overview

• Status: Terminated
• Conditions: Achondroplasia

• Study Type: Observational
• Enrollment (Actual): 315

Contacts and Locations

Study Locations

• Australia
  • Melbourne, Australia
    • Childrens Hospital Melbourne
  • Victoria
    • Parkville, Victoria, Australia, 3052
      • Murdoch Childrens Research Institute
• Belgium
  • Antwerp, Belgium, 2650
    • Antwerp University Hospital
  • Edegem, Belgium, 2650
    • Universitair Ziekenhuis Antwerpen (UZA)
• Canada
  • Toronto, Canada
    • The Hospital for Sick Children
  • Ontario
    • Toronto, Ontario, Canada, M5G 1X8
      • The Hospital for Sick Children
  • Quebec
    • Montreal, Quebec, Canada, H3T 1C5
      • CHU Sainte-Justine
• China
  • Beijing, China, 100045
    • Beijing Children's Hospital, Capital Medical University
  • Guangdong
    • Guangzhou, Guangdong, China, 510080
      • The First Affiliated Hospital, Sun Yat-sen University
• Denmark
  • Copenhagen, Denmark, 2100
    • Righospitalet
  • Copenhagen, Denmark, 2400
    • Bispebjerg Hospital
• France
  • Marseille, France, 13385
    • Centre Hospitalier Univesitaire La Timone
  • Marseille, France, 13385
    • Centre Hospitalier Universitaire La Timone
  • Paris, France, 75015
    • Hopital Necker-Enfants malades
• Germany
  • Cologne, Germany, 50937
    • University Hospital of Cologne
  • Cologne, Germany, 50937
    • Center for Rare Skeletal Diseases in Childhood and Adolescence
  • Magdeburg, Germany, 39120
    • Otto-von-Guericke-Universitat Magdeburg
  • Magdeburg, Germany, 39120
    • Otto-von-Guericke- Universität Magdeburg
• Italy
  • Como, Italy, 22042
    • ASST Lariana Como
  • Genova, Italy, 6147
    • IRCCS Istituto Giannina Gaslini
  • Milan, Italy, 20132
    • San Raffaele Hospital
  • Rome, Italy, 00168
    • Center for Rare Diseases, Department of Pediatrics, Polo Salute Donna e Bambino
  • Rome, Italy, 00168
    • Fondazione Policlinico Universitario A.Gemelli
  • Como
    • San Fermo della Battaglia, Como, Italy, 22042
      • ASST Lariana Como
  • Genoa
    • Genova, Genoa, Italy, 16147
      • IRCCS Istituto Giannina Gaslini
• Japan
  • Okayama, Japan, 700-8558
    • Okayama University Hospital
  • Osaka
    • Izumi, Osaka, Japan, 594-1101
      • Osaka Women's and Children's Hospital
    • Suita, Osaka, Japan, 565-0871
      • Osaka University Hospital
• Portugal
  • Coimbra, Portugal, 3000-602
    • Hospital Pediatrico de Coimbra
• Spain
  • Barcelona, Spain, 08035
    • Vall d'Hebron University Hospital
  • Barcelona, Spain
    • Vall D'Hebron Univeristy Hospital
  • Málaga, Spain
    • Hospital Quironsalud Malaga
• Switzerland
  • Lausanne, Switzerland, 1011
    • Centre Hospitalier Universitaire Vaudois -CHUV
  • Lausanne, Switzerland, 1011
    • CENTRE HOSPITALIER UNIVERSITAIRE VAUDOIS -CHUV Hôpital Neslé
• United Kingdom
  • Bristol, United Kingdom, BS2 8BJ
    • University Hospitals Bristol NHS Foundation Trust
  • Bristol, United Kingdom, BS2 8BJ
    • Bristol Royal Childrens Hospital
  • London, United Kingdom, SE1 7EH
    • Guy's & St Thomas NHS Trust, St Thomas' Hospital
  • London, United Kingdom, SE1 7EH
    • Guys & St Thomas NHS Trust
  • Newcastle, United Kingdom, NE1 3BZ
    • Newcastle Hospital NHS Foundation Trust
  • Newcastle upon Tyne, United Kingdom, NE1 3BZ
    • Newcastle Hospitals NHS Foundation Trust
  • Sheffield, United Kingdom, S10 2TH
    • Sheffield Children's NHS Foundation Trust
  • Sheffield, United Kingdom, S10 2TH
    • Sheffield Childrens NHS Foundation Trust
• United States
  • California
    • Los Angeles, California, United States, 90502
      • Los Angeles Biomedical Research Institute At Harbour-UCLA Medical Centre
    • Torrance, California, United States, 90502
      • Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center
  • Delaware
    • Wilmington, Delaware, United States, 419803-3607
      • Alfred I. duPont Hospital for Children - Wilmington
    • Wilmington, Delaware, United States, 419803
      • Alfred I. DuPont Hospital for Children
  • Maryland
    • Baltimore, Maryland, United States, 21287
      • The Johns Hopkins Hospital
    • Baltimore, Maryland, United States, 21287
      • The John Hopkins
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Boston Children's Hospital
    • Boston, Massachusetts, United States, 02115
      • Boston Childrens Hospital
  • Missouri
    • Columbia, Missouri, United States, 65203
      • Univesity of Missouri - Columbia
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Children's Hospital Medical Center
  • Texas
    • Houston, Texas, United States, 77030
      • Texas Children's Hospital
    • Houston, Texas, United States, 77030
      • Texas Children Hospital
  • Utah
    • Salt Lake City, Utah, United States, 84132
      • University of Utah Health
  • Washington
    • Seattle, Washington, United States, 98105
      • Seattle Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 15 years (Child)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

It is assumed that each of the study sites will enroll approximately 10-15 children of both genders and of various ages (0-10 years old).

The total number of children planned to be enrolled across all sites is approximately 200.

Description

Inclusion Criteria:

1. Written informed consent is obtained from the children's parent(s) / legal guardian(s) before any study-related activity is carried out
2. The child is able to provide written informed assent, where this is required according to national legislation, before any study related activity is carried out
3. The child has been diagnosed as having achondroplasia documented by clinical diagnosis
4. The child is between 0 years and 10 years of age, inclusive, on the date of consent / assent
5. The investigator has considered the family and prospective participating child being able to comply with the study procedures

Exclusion Criteria:

1. The child has a diagnosis of hypochondroplasia or any short stature condition other than achondroplasia (eg, spondyloepiphyseal dysplasia congenital [SEDC], pseudoachondroplasia, trisomy 21)
2. The child has any medical condition that may impact growth or where the treatment is known to impact growth, such as but not limited to hypothyroidism or hyperthyroidism, insulin-requiring diabetes mellitus, autoimmune inflammatory disease (including celiac disease, systemic lupus erythematosus [SLE], juvenile dermatomyositis, scleroderma, and others), autonomic neuropathy, or inflammatory bowel disease
3. Treatment in the previous 12 months prior to consent and assent with growth hormone, insulin-like growth factor 1 (IGF-1), anabolic steroids, or any other drug expected to affect growth velocity
4. Any surgery that affects the growth plate of the long bones that is planned, or has occurred in the past 18 months
5. Participation in any interventional study (investigational product or device) for treatment of achondroplasia or short stature
6. Has had bone-related surgery impacting assessment of anthropometric measurements or is expected to have it during the study period. Children with previous limb-lengthening surgery may enroll if surgery occurred at least 18 months prior to the date of consent/assent and healing is complete without sequelae as determined by the investigator
7. Has any condition that in the view of the investigator places the child at high risk of poor compliance with the visit schedule or of not completing the study.
8. Any concurrent disease or condition that in the view of the investigator would interfere with study participation

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Collection of Natural History of Achondroplasia Characteristics in a cohort of Children aged 0-10 years old diagnosed with Achondroplasia	To quantify the number & type of Achondroplasia Characteristics by review of medical records	Up to 5 Years
Collection of Natural History of Achondroplasia Symptoms in a cohort of Children aged 0-10 years old diagnosed with Achondroplasia	To quantify the number & type of Achondroplasia Symptoms by review of medical records	Up to 5 Years
Collection of Natural History of Achondroplasia related Tests & Treatments in a cohort of Children aged 0-10 years old diagnosed with Achondroplasia	To quantify the number & type of Achondroplasia related Tests & Treatments by review of medical records	Up to 5 Years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Measurement of biomarkers for bone growth	changes from Baseline in blood samples of collagen fragments	Baseline, Month 12, Month 24, Month 36, Month 48, Month 60

Collaborators and Investigators

• Sponsor: Pfizer
• Investigators: Study Director: Pfizer Pfizer CT.gov Call Center, Pfizer

Publications and helpful links

Helpful Links

• To obtain contact information for a study center near you, click here.

Study record dates

Study Major Dates

• Study Start (Actual): June 15, 2018
• Primary Completion (Actual): January 13, 2023
• Study Completion (Actual): January 13, 2023

Study Registration Dates

• First Submitted: November 19, 2018
• First Submitted That Met QC Criteria: January 3, 2019
• First Posted (Actual): January 7, 2019

Study Record Updates

• Last Update Posted (Actual): July 25, 2023
• Last Update Submitted That Met QC Criteria: July 21, 2023
• Last Verified: July 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Musculoskeletal Diseases; Bone Diseases; Dwarfism; Bone Diseases, Developmental; Osteochondrodysplasias; Achondroplasia
• Other Study ID Numbers: TA46-002; C4181001 (Other Identifier: Alias Study Number)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Pfizer will provide access to individual de-identified participant data and related study documents (e.g. protocol, Statistical Analysis Plan (SAP), Clinical Study Report (CSR)) upon request from qualified researchers, and subject to certain criteria, conditions, and exceptions. Further details on Pfizer's data sharing criteria and process for requesting access can be found at: https://www.pfizer.com/science/clinical_trials/trial_data_and_results/data_requests.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No