NCT02510989

Brief Summary

Syndromic obesity are rare forms of obesity (1% of cases), involving severe obesity and early to multi organ involvement (mental retardation, dysmorphic, sensorineural damage and / or endocrine). To date, the genetic defects are identified in only 5% of cases (Prader-Willi syndrome, Bardet-Biedl syndrome, mutation of leptin or its receptor, the proconvertase-1, proopiomelanocortin or SIM-1 and TRKB genes, high resolution karyotype or abnormal DNA chips, ...). Precocity and severity of obesity are those for a little dependent genetic environment. The investigators aim is to identify new gene variants in subjects with syndromic obesity sharing common phenotypic features.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
27

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jul 2016

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

July 2, 2015

Completed
27 days until next milestone

First Posted

Study publicly available on registry

July 29, 2015

Completed
11 months until next milestone

Study Start

First participant enrolled

July 4, 2016

Completed
2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 4, 2018

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 4, 2018

Completed
Last Updated

June 8, 2022

Status Verified

June 1, 2022

Enrollment Period

2 years

First QC Date

July 2, 2015

Last Update Submit

June 3, 2022

Conditions

Syndromic Obesity

Keywords

Syndromic obesityGenesExome

Outcome Measures

Primary Outcomes (1)

  • Presence of exonic variants or onsertions/deletions in subjects with syndromic obesity, not founr in related non-obese subjects

    Up to 2 years after the last inclusion

Secondary Outcomes (2)

  • Number of shared variants in candidate genes among patients with syndromic obesity

    Up to 2 years after the last inclusion

  • Number of unshared variants but located in the same candidate gene among patients with syndromic obesity

    Up to 2 years after the last inclusion

Eligibility Criteria

Age1 Year+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

10 unrelated subjects sharing phenotypic features will be selected as their two parents and one unaffected sibling corresponding to a total of 40 subjects.

You may qualify if:

  • Patient age ≥ 1 year with no upper age limit, with early onset (age of obesity onset \<6 years) and severe (Z-score of BMI ≥ + 3DS) obesity associated with psychomotor retardation or mental , food impulsiveness, +/- dysmorphy and / or endocrine abnormalities

You may not qualify if:

  • Identified syndromic obesity

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Gastroentérologie et Nutrition Pédiatriques , Hôpital Trousseau

Paris, 75012, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Tubes of blood for genetic analysis (20 ml of blood/subject)

Study Officials

  • Béatrice DUBERN, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 2, 2015

First Posted

July 29, 2015

Study Start

July 4, 2016

Primary Completion

July 4, 2018

Study Completion

July 4, 2018

Last Updated

June 8, 2022

Record last verified: 2022-06

Locations

FR(1)