Characterization of Phenotype and Genotype of Early Onset Enteropathies

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorImagine Institute

About this trial

This study has been set up in order to characterize phenotypes and genotypes of patients with early onset enteropathies.

In that goal, Investigators will collect biological samples (mainly blood) of patients suffering from early onset enteropathies and their healthy relatives.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

Severe chronic enteropathy

Patients developing their first symptoms within the first 6 years of life and, in priority within the first two years of life, or patients with a disease of later onset, in case of a familial history suggestive of inherited mutations notably in families comprising several affected members

OR : Be a patient's relative, even if presenting with enteropathy of later onset.

Disqualifiers

Subject having participated to any therapeutical clinical study in the 30 days preceding the inclusion in this study,

Trial population

Inclusion of patients with chronic severe entheropathy and of their healthy relatives

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • Biological sampling

    Other intervention

    Biological sampling including blood, feces, biopsies...

Treatment groups

1,445 Participants
are divided into 2 treatment groups
Group A: Sick patients1 intervention
Group B: Healthy relatives1 intervention

Trial outcomes

Primary outcomes

1

Increasing the current rate (20%) of genetic characterization of early onset entheropathies

Currently, around 20% of early onset entheropathies are genetically characterized. Investigators want to increase this rate via this research protocol. Our long term objective is to characterize phenotypes and genotypes of patients with early onset enteropathies.

Time frame
40 years

Secondary outcomes

Other outcomes

Sponsors and contacts

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