IDMet (RaDiCo Cohort) (RaDiCo-IDMet)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

2000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-03-10

Study Completion Date

2028-03-31

Brief Summary

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The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center.

The main questions it aims to answer are:

* Can we identify common metabolic profiles for all imprinted diseases?
* Which imprinting disorders have an impact on the metabolic profiles of IDs?
* Which are the metabolic risks associated to IDs?
* Can we use the metabolic profiles for the clinical classification and prognosis of IDs?
* Are there common therapeutic approaches for all IDs?

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Detailed Description

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Conditions

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Silver Russell Syndrome Beckwith-Wiedemann Syndrome Transient Neonatal Diabetes Mellitus Angelman Syndrome Prader-Willi Syndrome Temple Syndrome Kagami-Ogata Syndrome Pseudohypoparathyroidism Familial Precocious Puberty

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Eligibility Criteria

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Inclusion Criteria

* Patients (adults and children) affected with an ID regardless of the severity of the disease
* A confirmed diagnosis of ID (based on molecular diagnosis)
* A signed informed consent for adults or signed informed consent of parents/guardians of minors/ protected adult.

Eligible Sex

ALL

Accepts Healthy Volunteers

No