Other Clinical Trial - Clinical & Molecular Study of CHARGE Syndrom

Clinical Trial Summary

1. Clinical description of a French cohort of patients with CHARGE syndrome.

2. Search any phenotype-genotype correlation in typical, atypical or incomplete form of the syndrome

3. Using Next generation Sequencing, try to identify other genes involved in this syndrome, as the CHD7 gene is involved in only 40-60% of cases

Interventional studies are often prospective and are specifically tailored to evaluate direct impacts of treatment or preventive measures on disease.

Observational studies are often retrospective and are used to assess potential causation in exposure-outcome relationships and therefore influence preventive methods.

Expanded access is a means by which manufacturers make investigational new drugs available, under certain circumstances, to treat a patient(s) with a serious disease or condition who cannot participate in a controlled clinical trial.

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

NCT number	NCT03186144
Study type	Interventional
Source	Poitiers University Hospital
Contact
Status	Completed
Phase	N/A
Start date	February 2012
Completion date	December 2015

Clinical and Molecular Study of CHARGE Syndrom — CHARGE

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms