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

Terminated
Conditions
Achondroplasia
Registration Number
NCT03794609
Lead Sponsor
Pfizer
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.

Detailed Description

Not available

Recruitment & Eligibility

Status
TERMINATED
Sex
All
Target Recruitment
315
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 & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Change From Baseline in Standing HeightBaseline, 1 year, 2 years, 3 years, 4 years

Standing height (for participants aged ≥2 years) is an assessment of maximum vertical size. Standing height was measured using a stadiometer with a fixed vertical backboard and an adjustable head piece. Height in supine position (or length for participants aged \<2 years) was measured using measuring board. Three valid measurements were performed at each visit and the average of the 3 valid measurements was reported and used in descriptive summaries. Data is reported according to age group (\<2 years and ≥2 years) and gender of the participants.

Change From Baseline in Sitting HeightBaseline, 1 year, 2 years, 3 years, 4 years

Sitting height (for participants aged ≥2 years) is a measure of the trunk of the body from the buttocks to the top of the head when the participant is sitting upright. Sitting height was measured using a stadiometer and sitting height table. Crown-rump length (for participants aged \<2 years) was measured using measuring board. Three valid measurements were performed at each visit and the average of the 3 valid measurements was reported and used in descriptive summaries. Data is reported according to age group (\<2 years and ≥2 years) and gender of the participants.

Change From Baseline in Knee HeightBaseline, 1 year, 2 years, 3 years, 4 years

Knee height means lower segment length (lower segment=standing height - sitting height). Knee height was measured using knee height caliper. Three valid measurements were performed at each visit and the average of the 3 valid measurements was reported and used in descriptive summaries. Data is reported according to age group (\<2 years, 2-10 years, and ≥10 years) and gender of the participants.

Change From Baseline in Head CircumferenceBaseline, 1 year, 2 years, 3 years, 4 years

Head circumference is a measurement of the circumference of the child's head at its largest area, above the eyebrows and ears and around the back of the head. Head circumfernce was measured using measuring tape. Three valid measurements were performed at each visit and the average of the 3 valid measurements was reported and used in descriptive summaries. Data is reported according to age group (\<2 years, 2-10 years, and ≥10 years) and gender of the participants.

Change From Baseline in Arm SpanBaseline, 1 year, 2 years, 3 years, 4 years

Arm span measurement is the distance between fingertips when the arms are outstretched. All participants should be measured supine lying on the measurement grid. Three valid measurements were performed at each visit and the average of the 3 valid measurements was reported and used in descriptive summaries. Data is reported according to age group (\<2 years, 2-10 years, and ≥10 years) and gender of the participants.

Number of Participants With Achondroplasia-Related TreatmentsBaseline to end of study visit (up to 55 months)

Achondroplasia-related treatments were collected in a prospective and standardized fashion to allow characterization of the natural history of the disease course in the youngest participants in relation to the level of actual disease burden over time due to treatments, as well as data to support identification of possible risk factors. Data is reported according to the gender of the participants.

Secondary Outcome Measures
NameTimeMethod
Baseline and Post-baseline Measurements of Serum Collagen X MarkerBaseline, 1 year, 2 years, 3 years

Collagen X Marker (CXM), is a degradation by-product of endochondral ossification that is released into the circulation in proportion to overall growth plate activity. This marker corresponds to the rate of linear bone growth at time of measurement as recently demonstrated in children of normal average growth. Data is reported according to age group (\<2 years, 2-10 years, and ≥10 years) and gender of the participants.

Trial Locations

Locations (54)

Los Angeles Biomedical Research Institute At Harbour-UCLA Medical Centre

🇺🇸

Los Angeles, California, United States

Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center

🇺🇸

Torrance, California, United States

Alfred I. duPont Hospital for Children - Wilmington

🇺🇸

Wilmington, Delaware, United States

Alfred I. duPont Hospital for Children

🇺🇸

Wilmington, Delaware, United States

The John Hopkins

🇺🇸

Baltimore, Maryland, United States

The Johns Hopkins Hospital

🇺🇸

Baltimore, Maryland, United States

Boston Children's Hospital

🇺🇸

Boston, Massachusetts, United States

Boston Childrens Hospital

🇺🇸

Boston, Massachusetts, United States

Univesity of Missouri - Columbia

🇺🇸

Columbia, Missouri, United States

Cincinnati Children's Hospital Medical Center

🇺🇸

Cincinnati, Ohio, United States

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Los Angeles Biomedical Research Institute At Harbour-UCLA Medical Centre
🇺🇸Los Angeles, California, United States

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