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. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT03794609 |
Recruitment Status :
Active, not recruiting
First Posted : January 7, 2019
Last Update Posted : November 18, 2022
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
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 |
---|
Achondroplasia |
Study Type : | Observational |
Actual Enrollment : | 315 participants |
Observational Model: | Case-Only |
Time Perspective: | Prospective |
Official Title: | An International, Prospective Registry Investigating the Natural History of Participants With Achondroplasia |
Actual Study Start Date : | June 15, 2018 |
Estimated Primary Completion Date : | September 29, 2027 |
Estimated Study Completion Date : | September 29, 2027 |

- 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
- 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
- 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
- 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

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.
Ages Eligible for Study: | 0 Years to 15 Years (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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:
- Written informed consent is obtained from the children's parent(s) / legal guardian(s) before any study-related activity is carried out
- 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
- The child has been diagnosed as having achondroplasia documented by clinical diagnosis
- The child is between 0 years and 10 years of age, inclusive, on the date of consent / assent
- The investigator has considered the family and prospective participating child being able to comply with the study procedures
Exclusion Criteria:
- The child has a diagnosis of hypochondroplasia or any short stature condition other than achondroplasia (eg, spondyloepiphyseal dysplasia congenital [SEDC], pseudoachondroplasia, trisomy 21)
- 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
- 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
- Any surgery that affects the growth plate of the long bones that is planned, or has occurred in the past 18 months
- Participation in any interventional study (investigational product or device) for treatment of achondroplasia or short stature
- 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
- 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.
- Any concurrent disease or condition that in the view of the investigator would interfere with study participation

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 ClinicalTrials.gov identifier (NCT number): NCT03794609

Study Director: | Pfizer Pfizer CT.gov Call Center | Pfizer |
Responsible Party: | Pfizer |
ClinicalTrials.gov Identifier: | NCT03794609 |
Other Study ID Numbers: |
TA46-002 C4181001 ( Other Identifier: Alias Study Number ) |
First Posted: | January 7, 2019 Key Record Dates |
Last Update Posted: | November 18, 2022 |
Last Verified: | November 2022 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
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. |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Achondroplasia Dwarfism Bone Diseases, Developmental Bone Diseases |
Musculoskeletal Diseases Osteochondrodysplasias Genetic Diseases, Inborn |