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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03794609
Recruitment Status : Recruiting
First Posted : January 7, 2019
Last Update Posted : April 18, 2019
Information provided by (Responsible Party):
Therachon SAS

Brief Summary:

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.

Condition or disease

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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Multi-center, Prospective, Longitudinal, Observational Study to Investigate the Clinical and Anthropometric Characteristics of Children With the Diagnosis Achondroplasia.
Actual Study Start Date : June 15, 2018
Estimated Primary Completion Date : June 15, 2023
Estimated Study Completion Date : June 15, 2023

Primary Outcome Measures :
  1. Collection of Natural History of Achondroplasia Characteristics in a cohort of Children aged 0-10 years old diagnosed with Achondroplasia [ Time Frame: Up to 5 Years ]
    To quantify the number & type of Achondroplasia Characteristics by review of medical records

  2. Collection of Natural History of Achondroplasia Symptoms in a cohort of Children aged 0-10 years old diagnosed with Achondroplasia [ Time Frame: Up to 5 Years ]
    To quantify the number & type of Achondroplasia Symptoms by review of medical records

  3. Collection of Natural History of Achondroplasia related Tests & Treatments in a cohort of Children aged 0-10 years old diagnosed with Achondroplasia [ Time Frame: Up to 5 Years ]
    To quantify the number & type of Achondroplasia related Tests & Treatments by review of medical records

Secondary Outcome Measures :
  1. Measurement of biomarkers for bone growth [ Time Frame: Baseline, Month 12, Month 24, Month 36, Month 48, Month 60 ]
    changes from Baseline in blood samples of collagen fragments

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   up to 10 Years   (Child)
Sexes Eligible for Study:   All
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.


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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03794609

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Contact: Alison Slade +41 61 551 3030

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United States, Delaware
Alfred I. duPont Hospital for Children Recruiting
Wilmington, Delaware, United States, 419803
United States, Maryland
The John Hopkins Recruiting
Baltimore, Maryland, United States, 21287
United States, Massachusetts
Boston Childrens Hospital Not yet recruiting
Boston, Massachusetts, United States, 02115
United States, Utah
University of Utah Health Not yet recruiting
Salt Lake City, Utah, United States, 84132
Antwerp University Hospital Recruiting
Antwerp, Belgium, 2650
The Hospital for Sick Children Recruiting
Toronto, Canada
Righospitalet Recruiting
Copenhagen, Denmark, 2100
Centre Hospitalier Universitaire La Timone Not yet recruiting
Marseille, France, 13385
Hopital Necker-Enfants Malades Not yet recruiting
Paris, France, 75015
University Hospital of Cologne Recruiting
Cologne, Germany, 50937
Otto-von-Guericke- Universitat Magdeburg Recruiting
Magdeburg, Germany, 39120
ASST Lariana Como Not yet recruiting
Como, Italy, 22042
IRCCS Istituto Giannina Gaslini Recruiting
Genova, Italy, 6147
San Raffaele Hospital Recruiting
Milan, Italy, 20132
Fondazione Policlinico Universitario A.Gemelli Not yet recruiting
Rome, Italy, 00168
Hospital Pediatrico de Coimbra Not yet recruiting
Coimbra, Portugal, 3000-602
Hospital Quironsalud Malaga Recruiting
Málaga, Spain
United Kingdom
Bristol Royal Childrens Hospital Recruiting
Bristol, United Kingdom, BS2 8BJ
Guys & St Thomas NHS Trust Recruiting
London, United Kingdom, SE1 7EH
Newcastle Hospital NHS Foundation Trust Recruiting
Newcastle, United Kingdom, NE1 3BZ
Sheffield Childrens NHS Foundation Trust Recruiting
Sheffield, United Kingdom, S10 2TH
Sponsors and Collaborators
Therachon SAS
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Study Director: Sam Collins, MD Therachon SAS

Additional Information:
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Responsible Party: Therachon SAS Identifier: NCT03794609     History of Changes
Other Study ID Numbers: TA46-002
First Posted: January 7, 2019    Key Record Dates
Last Update Posted: April 18, 2019
Last Verified: April 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Genetic Diseases, Inborn