Trial Outcomes & Findings for Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia. (NCT NCT03794609)
NCT ID: NCT03794609
Last Updated: 2024-10-17
Results Overview
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.
Recruitment status
TERMINATED
Target enrollment
315 participants
Primary outcome timeframe
Baseline, 1 year, 2 years, 3 years, 4 years
Results posted on
2024-10-17
Participant Flow
This was a prospective, registry study, and conducted at multiple clinical centers globally. A total of 315 participants with eligibility-verified were enrolled.
Participant milestones
| Measure |
Enrolled Participants
Participants with achondroplasia were followed over 4 years with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
|---|---|
|
Overall Study
STARTED
|
315
|
|
Overall Study
COMPLETED
|
4
|
|
Overall Study
NOT COMPLETED
|
311
|
Reasons for withdrawal
| Measure |
Enrolled Participants
Participants with achondroplasia were followed over 4 years with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
|---|---|
|
Overall Study
Other
|
10
|
|
Overall Study
Withdrawal by Subject
|
66
|
|
Overall Study
The child is enrolled in an interventional study
|
70
|
|
Overall Study
Inclusion/exclusion criteria
|
8
|
|
Overall Study
At sponsor's request
|
151
|
|
Overall Study
Physician Decision
|
1
|
|
Overall Study
Lost to Follow-up
|
5
|
Baseline Characteristics
Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia.
Baseline characteristics by cohort
| Measure |
Enrolled Participants
n=315 Participants
Participants with achondroplasia were followed over 4 years with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
|---|---|
|
Age, Customized
0-2 Years
|
82 Participants
n=99 Participants
|
|
Age, Customized
2-10 Years
|
213 Participants
n=99 Participants
|
|
Age, Customized
≥10 Years
|
18 Participants
n=99 Participants
|
|
Age, Customized
Missing age
|
2 Participants
n=99 Participants
|
|
Sex: Female, Male
Female
|
137 Participants
n=99 Participants
|
|
Sex: Female, Male
Male
|
178 Participants
n=99 Participants
|
|
Ethnicity (NIH/OMB)
Hispanic or Latino
|
22 Participants
n=99 Participants
|
|
Ethnicity (NIH/OMB)
Not Hispanic or Latino
|
288 Participants
n=99 Participants
|
|
Ethnicity (NIH/OMB)
Unknown or Not Reported
|
5 Participants
n=99 Participants
|
|
Race/Ethnicity, Customized
Asian
|
52 Participants
n=99 Participants
|
|
Race/Ethnicity, Customized
Black or African American
|
2 Participants
n=99 Participants
|
|
Race/Ethnicity, Customized
White
|
233 Participants
n=99 Participants
|
|
Race/Ethnicity, Customized
Other
|
24 Participants
n=99 Participants
|
|
Race/Ethnicity, Customized
Not Applicable
|
4 Participants
n=99 Participants
|
PRIMARY outcome
Timeframe: Baseline, 1 year, 2 years, 3 years, 4 yearsPopulation: Analysis population included all enrolled participants, among whom, 2 participants have not been included due to missing age. The "Overall Number of Participants Analyzed" was based on age at baseline. The "Number Analyzed" in a row was based on actually analyzed participants at each visit.
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.
Outcome measures
| Measure |
Male (Aged <2 Years)
n=45 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged <2 Years)
n=37 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥2 Years)
n=131 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥2 Years)
n=100 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥10 Years)
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥10 Years)
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
|---|---|---|---|---|---|---|
|
Change From Baseline in Standing Height
Baseline
|
64.1 centimeter (cm)
Standard Deviation 6.50
|
61.8 centimeter (cm)
Standard Deviation 5.27
|
90.7 centimeter (cm)
Standard Deviation 12.26
|
88.8 centimeter (cm)
Standard Deviation 11.52
|
—
|
—
|
|
Change From Baseline in Standing Height
Change at 1 year
|
8.4 centimeter (cm)
Standard Deviation 5.74
|
9.6 centimeter (cm)
Standard Deviation 2.53
|
4.6 centimeter (cm)
Standard Deviation 1.30
|
4.8 centimeter (cm)
Standard Deviation 1.44
|
—
|
—
|
|
Change From Baseline in Standing Height
Change at 2 years
|
18.8 centimeter (cm)
Standard Deviation 1.72
|
15.7 centimeter (cm)
Standard Deviation 4.94
|
8.8 centimeter (cm)
Standard Deviation 2.03
|
9.0 centimeter (cm)
Standard Deviation 2.01
|
—
|
—
|
|
Change From Baseline in Standing Height
Change at 3 years
|
—
|
—
|
12.5 centimeter (cm)
Standard Deviation 2.69
|
13.4 centimeter (cm)
Standard Deviation 2.79
|
—
|
—
|
|
Change From Baseline in Standing Height
Change at 4 years
|
—
|
—
|
11.6 centimeter (cm)
Standard Deviation 2.03
|
—
|
—
|
—
|
PRIMARY outcome
Timeframe: Baseline, 1 year, 2 years, 3 years, 4 yearsPopulation: Analysis population included all enrolled participants, among whom, 2 participants have not been included due to missing age. The "Overall Number of Participants Analyzed" was based on age at baseline. The "Number Analyzed" in a row was based on actually analyzed participants at each visit.
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.
Outcome measures
| Measure |
Male (Aged <2 Years)
n=45 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged <2 Years)
n=37 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥2 Years)
n=131 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥2 Years)
n=100 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥10 Years)
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥10 Years)
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
|---|---|---|---|---|---|---|
|
Change From Baseline in Sitting Height
Baseline
|
46.2 cm
Standard Deviation 4.39
|
44.8 cm
Standard Deviation 3.54
|
61.3 cm
Standard Deviation 6.78
|
59.9 cm
Standard Deviation 6.64
|
—
|
—
|
|
Change From Baseline in Sitting Height
Change at 1 year
|
7.5 cm
Standard Deviation 5.66
|
6.7 cm
Standard Deviation 1.49
|
2.6 cm
Standard Deviation 1.06
|
2.9 cm
Standard Deviation 1.11
|
—
|
—
|
|
Change From Baseline in Sitting Height
Change at 2 years
|
14.3 cm
Standard Deviation 1.11
|
10.8 cm
Standard Deviation 3.41
|
4.9 cm
Standard Deviation 1.49
|
5.6 cm
Standard Deviation 1.27
|
—
|
—
|
|
Change From Baseline in Sitting Height
Change at 3 years
|
—
|
—
|
7.0 cm
Standard Deviation 1.74
|
7.8 cm
Standard Deviation 1.85
|
—
|
—
|
|
Change From Baseline in Sitting Height
Change at 4 years
|
—
|
—
|
6.3 cm
Standard Deviation 1.65
|
—
|
—
|
—
|
PRIMARY outcome
Timeframe: Baseline, 1 year, 2 years, 3 years, 4 yearsPopulation: Analysis population included all enrolled participants, among whom, 2 participants have not been included due to missing age. The "Overall Number of Participants Analyzed" was based on age at baseline. The "Number Analyzed" in a row was based on actually analyzed participants at each visit.
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.
Outcome measures
| Measure |
Male (Aged <2 Years)
n=45 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged <2 Years)
n=37 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥2 Years)
n=119 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥2 Years)
n=94 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥10 Years)
n=12 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥10 Years)
n=6 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
|---|---|---|---|---|---|---|
|
Change From Baseline in Knee Height
Baseline
|
15.0 cm
Standard Deviation 2.16
|
14.0 cm
Standard Deviation 1.92
|
22.5 cm
Standard Deviation 3.91
|
21.9 cm
Standard Deviation 3.69
|
29.1 cm
Standard Deviation 3.64
|
27.8 cm
Standard Deviation 2.70
|
|
Change From Baseline in Knee Height
Change at 1 year
|
2.3 cm
Standard Deviation 1.39
|
2.7 cm
Standard Deviation 0.95
|
1.6 cm
Standard Deviation 1.00
|
1.5 cm
Standard Deviation 0.93
|
1.3 cm
Standard Deviation 0.83
|
1.4 cm
Standard Deviation 0.16
|
|
Change From Baseline in Knee Height
Change at 2 years
|
4.6 cm
Standard Deviation 1.03
|
4.8 cm
Standard Deviation 1.44
|
3.2 cm
Standard Deviation 1.96
|
3.4 cm
Standard Deviation 1.44
|
2.0 cm
Standard Deviation 0.41
|
—
|
|
Change From Baseline in Knee Height
Change at 3 years
|
6.2 cm
Standard Deviation 0.95
|
6.4 cm
Standard Deviation 1.85
|
4.5 cm
Standard Deviation 2.31
|
5.0 cm
Standard Deviation 1.99
|
3.4 cm
Standard Deviation 0.99
|
—
|
|
Change From Baseline in Knee Height
Change at 4 years
|
—
|
—
|
3.5 cm
Standard Deviation 1.25
|
—
|
—
|
—
|
PRIMARY outcome
Timeframe: Baseline, 1 year, 2 years, 3 years, 4 yearsPopulation: Analysis population included all enrolled participants, among whom, 2 participants have not been included due to missing age. The "Overall Number of Participants Analyzed" was based on age at baseline. The "Number Analyzed" in a row was based on actually analyzed participants at each visit.
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.
Outcome measures
| Measure |
Male (Aged <2 Years)
n=45 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged <2 Years)
n=37 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥2 Years)
n=119 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥2 Years)
n=94 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥10 Years)
n=12 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥10 Years)
n=6 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
|---|---|---|---|---|---|---|
|
Change From Baseline in Head Circumference
Baseline
|
48.9 cm
Standard Deviation 3.75
|
47.7 cm
Standard Deviation 3.10
|
55.5 cm
Standard Deviation 2.28
|
54.4 cm
Standard Deviation 2.42
|
57.2 cm
Standard Deviation 2.56
|
55.2 cm
Standard Deviation 2.11
|
|
Change From Baseline in Head Circumference
Change at 1 year
|
3.8 cm
Standard Deviation 2.31
|
4.0 cm
Standard Deviation 2.43
|
0.6 cm
Standard Deviation 0.70
|
0.4 cm
Standard Deviation 1.02
|
0.2 cm
Standard Deviation 0.43
|
0.9 cm
Standard Deviation 0.51
|
|
Change From Baseline in Head Circumference
Change at 2 years
|
5.6 cm
Standard Deviation 3.27
|
5.3 cm
Standard Deviation 2.79
|
0.9 cm
Standard Deviation 0.74
|
1.1 cm
Standard Deviation 0.71
|
1.0 cm
Standard Deviation 0.38
|
—
|
|
Change From Baseline in Head Circumference
Change at 3 years
|
4.7 cm
Standard Deviation 2.22
|
4.6 cm
Standard Deviation 2.88
|
1.0 cm
Standard Deviation 0.70
|
1.4 cm
Standard Deviation 0.55
|
-0.4 cm
Standard Deviation 3.68
|
—
|
|
Change From Baseline in Head Circumference
Change at 4 years
|
—
|
—
|
1.1 cm
Standard Deviation 0.09
|
—
|
—
|
—
|
PRIMARY outcome
Timeframe: Baseline, 1 year, 2 years, 3 years, 4 yearsPopulation: Analysis population included all enrolled participants, among whom, 2 participants have not been included due to missing age. The "Overall Number of Participants Analyzed" was based on age at baseline. The "Number Analyzed" in a row was based on actually analyzed participants at each visit.
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.
Outcome measures
| Measure |
Male (Aged <2 Years)
n=45 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged <2 Years)
n=37 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥2 Years)
n=119 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥2 Years)
n=94 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥10 Years)
n=12 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥10 Years)
n=6 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
|---|---|---|---|---|---|---|
|
Change From Baseline in Arm Span
Baseline
|
56.5 cm
Standard Deviation 6.13
|
55.2 cm
Standard Deviation 5.89
|
80.5 cm
Standard Deviation 11.07
|
79.4 cm
Standard Deviation 11.51
|
99.3 cm
Standard Deviation 10.09
|
99.3 cm
Standard Deviation 3.54
|
|
Change From Baseline in Arm Span
Change at 1 year
|
7.7 cm
Standard Deviation 1.94
|
8.6 cm
Standard Deviation 2.02
|
4.2 cm
Standard Deviation 1.63
|
4.4 cm
Standard Deviation 1.76
|
-1.1 cm
Standard Deviation 10.93
|
4.2 cm
Standard Deviation 1.16
|
|
Change From Baseline in Arm Span
Change at 2 years
|
12.8 cm
Standard Deviation 2.40
|
14.3 cm
Standard Deviation 3.16
|
8.6 cm
Standard Deviation 2.24
|
8.7 cm
Standard Deviation 2.41
|
7.2 cm
Standard Deviation 0.88
|
—
|
|
Change From Baseline in Arm Span
Change at 3 years
|
17.0 cm
Standard Deviation 2.16
|
17.9 cm
Standard Deviation 4.29
|
11.6 cm
Standard Deviation 2.71
|
12.4 cm
Standard Deviation 2.69
|
10.7 cm
Standard Deviation 0.96
|
—
|
|
Change From Baseline in Arm Span
Change at 4 years
|
—
|
—
|
10.1 cm
Standard Deviation 2.19
|
—
|
—
|
—
|
PRIMARY outcome
Timeframe: Baseline to end of study visit (up to 55 months)Population: Analysis population included all enrolled participants.
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.
Outcome measures
| Measure |
Male (Aged <2 Years)
n=178 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged <2 Years)
n=137 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥2 Years)
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥2 Years)
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥10 Years)
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥10 Years)
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
|---|---|---|---|---|---|---|
|
Number of Participants With Achondroplasia-Related Treatments
Ear Tube Insertion
|
32 Participants
|
17 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Adenoidectomy
|
26 Participants
|
7 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Physiotherapy
|
21 Participants
|
11 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Decompressive Craniectomy
|
11 Participants
|
11 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Speech Rehabilitation
|
13 Participants
|
9 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Tonsillectomy
|
13 Participants
|
4 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Adenotonsillectomy
|
11 Participants
|
5 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Continuous Positive Airway Pressure
|
7 Participants
|
3 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Spinal Support
|
6 Participants
|
3 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Occupational Therapy
|
5 Participants
|
2 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Oxygen Therapy
|
3 Participants
|
4 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Myringotomy
|
5 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Bilevel Positive Airway Pressure
|
4 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Mechanical Ventilation
|
3 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Specialist Consultation
|
3 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Epiphysiodesis
|
1 Participants
|
2 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Ergotherapy
|
2 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Psychotherapy
|
2 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Spinal Decompression
|
2 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Bone Operation
|
2 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Dental Care
|
1 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Middle Ear Operation
|
2 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Orthodontic Procedure
|
1 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Spinal Laminectomy
|
2 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Ventriculo-Peritoneal Shunt
|
1 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Hearing Aid Therapy
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Kinesitherapy
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Laryngoplasty
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Mastoidectomy
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Maxillofacial Operation
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Medical Device Removal
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Nasal Irrigation
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Nasal Operation
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Orthopaedic Insoles
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Osteopathic Treatment
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Pharyngeal Operation
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Pharyngeal Reconstruction
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Posterior Fossa Decompression
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Splint Application
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Therapeutic Procedure
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Tongue Tie Operation
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Tooth Extraction
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Weight Loss Diet
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Magnetic Resonance Imaging
|
3 Participants
|
3 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Audiogram
|
3 Participants
|
2 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Magnetic Resonance Imaging Brain
|
3 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Magnetic Resonance Imaging Neck
|
2 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Magnetic Resonance Imaging Spinal
|
2 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Sleep Study
|
3 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Abdominal X-Ray
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Acoustic Stimulation Tests Normal
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Brain Stem Auditory Evoked Response
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Bronchoscopy
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Ear, Nose And Throat Examination
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Electromyogram
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Laryngoscopy
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Neurological Examination Abnormal
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Otoacoustic Emissions Test
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Otoscopy
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Skeletal Survey
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Sleep Endoscopy
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Somatosensory Evoked Potentials
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Ultrasound Scan
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Ultrasound Skull
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Hearing Aid User
|
3 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Walking Aid User
|
1 Participants
|
0 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Cervical Spinal Stenosis
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Kyphosis
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Lordosis
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Foramen Magnum Stenosis
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
|
Number of Participants With Achondroplasia-Related Treatments
Otitis Media Chronic
|
0 Participants
|
1 Participants
|
—
|
—
|
—
|
—
|
SECONDARY outcome
Timeframe: Baseline, 1 year, 2 years, 3 yearsPopulation: Analysis population included all enrolled participants, among whom, 2 participants have not been included due to missing age. The "Overall Number of Participants Analyzed" was based on age at baseline. The "Number Analyzed" in a row was based on actually analyzed participants at each visit.
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.
Outcome measures
| Measure |
Male (Aged <2 Years)
n=45 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged <2 Years)
n=37 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥2 Years)
n=119 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥2 Years)
n=94 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Male (Aged ≥10 Years)
n=12 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
Female (Aged ≥10 Years)
n=6 Participants
Participants with achondroplasia were followed over a five-year period with respect to achondroplasia symptoms, tests and treatments, anthropometric parameters and biomarkers of bone growth. No study intervention was administered, and no other type of therapy was provided.
|
|---|---|---|---|---|---|---|
|
Baseline and Post-baseline Measurements of Serum Collagen X Marker
Baseline
|
20433 nanogram per liter (ng/L)
Standard Deviation 8479.2
|
20998 nanogram per liter (ng/L)
Standard Deviation 8959.5
|
15336 nanogram per liter (ng/L)
Standard Deviation 4360.7
|
15516 nanogram per liter (ng/L)
Standard Deviation 5019.8
|
11798 nanogram per liter (ng/L)
Standard Deviation 4330.0
|
14433 nanogram per liter (ng/L)
Standard Deviation 2433.7
|
|
Baseline and Post-baseline Measurements of Serum Collagen X Marker
1 year
|
16053 nanogram per liter (ng/L)
Standard Deviation 6025.0
|
18767 nanogram per liter (ng/L)
Standard Deviation 5128.7
|
15623 nanogram per liter (ng/L)
Standard Deviation 4208.9
|
15820 nanogram per liter (ng/L)
Standard Deviation 4830.7
|
13815 nanogram per liter (ng/L)
Standard Deviation 4726.9
|
13343 nanogram per liter (ng/L)
Standard Deviation 4635.4
|
|
Baseline and Post-baseline Measurements of Serum Collagen X Marker
2 years
|
13757 nanogram per liter (ng/L)
Standard Deviation 3906.2
|
17534 nanogram per liter (ng/L)
Standard Deviation 5558.0
|
14046 nanogram per liter (ng/L)
Standard Deviation 4520.1
|
15172 nanogram per liter (ng/L)
Standard Deviation 4932.6
|
13630 nanogram per liter (ng/L)
Standard Deviation 4404.8
|
—
|
|
Baseline and Post-baseline Measurements of Serum Collagen X Marker
3 years
|
13719 nanogram per liter (ng/L)
Standard Deviation 3198.7
|
14953 nanogram per liter (ng/L)
Standard Deviation 3227.0
|
14416 nanogram per liter (ng/L)
Standard Deviation 3943.9
|
14088 nanogram per liter (ng/L)
Standard Deviation 4463.0
|
13597 nanogram per liter (ng/L)
Standard Deviation 6226.5
|
—
|
Adverse Events
Enrolled Participants
Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths
Serious adverse events
Adverse event data not reported
Other adverse events
Adverse event data not reported
Additional Information
Results disclosure agreements
- Principal investigator is a sponsor employee Pfizer has the right to review disclosures, requesting a delay of less than 60 days. Investigator will postpone single center publications until after disclosure of pooled data (all sites), less than 12 months from study completion/termination at all participating sites. Investigator may not disclose previously undisclosed confidential information other than study results.
- Publication restrictions are in place
Restriction type: OTHER