UMIN-ICDS Clinical Trial

Public title

Survival and Long-Term Outcomes in Individuals with Campomelic Dysplasia: A Systematic Review

Acronym

Survival and Long-Term Outcomes in Individuals with Campomelic Dysplasia: A Systematic Review

Scientific Title

Survival and Long-Term Outcomes in Individuals with Campomelic Dysplasia: A Systematic Review

Scientific Title:Acronym

Survival and Long-Term Outcomes in Individuals with Campomelic Dysplasia: A Systematic Review

Region

Japan	Asia(except Japan)	North America
South America	Australia	Europe
Africa

Condition

Campomelic dysplasia

Classification by specialty

Pediatrics

Classification by malignancy

Others

Genomic information

YES

Narrative objectives1

What are the characteristics and the survival outcomes of patients with campomelic dysplasia?

Basic objectives2

Others

Basic objectives -Others

1-year, 5-year, and 10-year survival rates

Trial characteristics_1

Trial characteristics_2

Developmental phase

Not applicable

Primary outcomes

1-year, 5-year, and 10-year survival rates

Key secondary outcomes

Causes of death, Complications in long-term survivors
1. Respiratory-related complications and outcomes: Presence or absence of tracheostomy, Duration of intubation, Home ventilatory support / CPAP / HFNC / nasal cannula oxygen, Recurrent respiratory infections, Presence or absence of airway malacia, Presence or absence of laryngeal and/or tracheal stenosis
2. Orthopedic complications: Limb bowing, Scoliosis, Cervical spine abnormalities, Presence or absence of surgical intervention
3. Neurodevelopmental outcomes: Developmental delay, Acquisition of independent walking, Language development, School attendance, educational status
4. Disorders of sex development: 46,XY sex reversal, Gonadectomy, Hormone therapy

Study type

Others,meta-analysis etc

Basic design

Randomization

Randomization unit

Blinding

Control

Stratification

Dynamic allocation

Institution consideration

Blocking

Concealment

No. of arms

Purpose of intervention

Type of intervention

Interventions/Control_1

Interventions/Control_2

Interventions/Control_3

Interventions/Control_4

Interventions/Control_5

Interventions/Control_6

Interventions/Control_7

Interventions/Control_8

Interventions/Control_9

Interventions/Control_10

Age-lower limit

Not applicable

Age-upper limit

Not applicable

Gender

Male and Female

Key inclusion criteria

Types of studies: We will include observational studies (prospective or retrospective cohort studies, case-control studies, cross-sectional studies), case series, and case reports that report survival, mortality, or long-term clinical outcomes in individuals with campomelic dysplasia. Conference abstracts without sufficient outcome data, review articles, editorials, letters without original patient data, and animal or laboratory studies will be excluded. Only studies published in English and Japanese will be included. No restrictions will be applied regarding publication year.
Participants: Individuals of any age with a diagnosis of campomelic dysplasia, established clinically and/or confirmed by genetic testing (e.g., pathogenic variants in the SOX9 gene).

Key exclusion criteria

Studies were excluded if they involved fetal cases, non-human subjects, or cases with unavailable or unknown clinical outcomes.

Target sample size

Name of lead principal investigator

1st name	Chihiro
Middle name
Last name	Takata

Organization

National Center for Child Health and Development

Division name

Center for Maternal-Fetal, Neonatal and Reproductive Medicine Division of Neonatology

Zip code

157-8535

Address

2-10-1 Okura, Setagaya-ku, Tokyo, Japan

TEL

03-3416-0181

Email

takata-c@ncchd.go.jp

Name of contact person

1st name	Chihiro
Middle name
Last name	Takata

Organization

National Center for Child Health and Development

Division name

Center for Maternal-Fetal, Neonatal and Reproductive Medicine Division of Neonatology

Zip code

157-8535

Address

2-10-1 Okura, Setagaya-ku, Tokyo, Japan

TEL

03-3416-0181

Homepage URL

Email

takata-c@ncchd.go.jp

Institute

National Center for Child Health and Development

Institute

Department

Personal name

Chihiro Takata

Organization

None

Organization

Division

Category of Funding Organization

Self funding

Nationality of Funding Organization

Co-sponsor

Name of secondary funder(s)

Organization

National Center for Child Health and Development

Address

2-10-1 Okura, Setagaya-ku, Tokyo, Japan

Tel

03-3416-0181

Email

takata-c@ncchd.go.jp

Secondary IDs

NO

Study ID_1

Org. issuing International ID_1

Study ID_2

Org. issuing International ID_2

IND to MHLW

Institutions

Date of disclosure of the study information

2026

Year

08

Month

31

Day

URL releasing protocol

Publication of results

Unpublished

URL related to results and publications

Number of participants that the trial has enrolled

Results

Results date posted

Results Delayed

Results Delay Reason

Date of the first journal publication of results

Baseline Characteristics

Participant flow

Adverse events

Outcome measures

Plan to share IPD

IPD sharing Plan description

Recruitment status

Preinitiation

Date of protocol fixation

2026

Year

04

Month

17

Day

Date of IRB

2026

Year

04

Month

17

Day

Anticipated trial start date

2026

Year

04

Month

17

Day

Last follow-up date

2027

Year

03

Month

31

Day

Date of closure to data entry

Date trial data considered complete

Date analysis concluded

Other related information

We searched the MEDLINE, EMBASE, and Ichushi-Web databases for articles in which "Campomelic dysplasia", "Campomelic syndrome", "Campomelic dwarfism," appeared in the title, abstract, or keywords. The search was limited to articles published in English or Japanese.
Patient-level clinical data will be extracted from eligible studies, and duplicate reports of the same patient will be identified and consolidated whenever possible before analysis.
For survival outcomes, all patients, including those who died shortly after birth, will be included. Age at death and age at last confirmed follow-up will be collected. Survival status at 1, 5, and 10 years will be assessed, and the number and proportion of surviving patients will be summarized using patients with evaluable survival status at each time point as the denominator. For deceased patients, age and cause of death will also be summarized.
Complications will be categorized by clinical domain, including respiratory/airway, musculoskeletal, neurological, growth and development, renal/urinary, and disorders of sex development/genital abnormalities. The number and proportion of patients with each complication will be summarized using descriptive statistics. Proportions will be calculated using patients with evaluable data for each complication as the denominator, and unreported complications will not be considered absent.
When data are available, age at onset of complications and age-specific clinical courses will also be descriptively evaluated. If sufficient numbers of patients are available, exploratory subgroup analyses will be performed according to campomelic dysplasia versus acampomelic campomelic dysplasia and the type of genetic abnormality. If substantial heterogeneity among studies precludes quantitative synthesis, meta-analysis will not be performed, and the results will be presented using tables, figures, and narrative synthesis.

Registered date

2026

Year

08

Month

31

Day

Last modified on

2026

Year

08

Month

31

Day

Link to view the page

Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000071807