Polygen Defi-Alpha: Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort

Plain-language summary

This study investigated genetic polymorphisms (genetic variations) that may influence the course of alpha-1 antitrypsin deficiency in children, using blood sampling. It included children and young individuals with this deficiency who were enrolled in the DEFI-ALPHA cohort. The study was carried out as a non-phase study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Completed

Sponsor

Hospices Civils de Lyon

Intervention

blood sampling

Start date

5/1/2013

Estimated completion

11/1/2017

Countries

France

Related genes

Locations

• Amiens, France
• Besançon, France
• Bordeaux, France
• Bron, France
• Clermont-Ferrand, France
• La Tronche, France
• Le Havre, France
• Le Kremlin-Bicêtre, France
• Lille, France
• Marseille, France
• Nancy, France
• Nantes, France
• Paris, France
• Rennes, France
• Rouen, France
• Saint-Etienne, France
• Saint-Nazaire, France
• Strasbourg, France
• Toulouse, France
• Tours, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Children included in the DefiAlpha cohort or adult aged under 18 years at the time of inclusion in the cohort Defi-Alpha, with a deficiency of of alpha-1 antitrypsin
* Beneficiaries subjects of a social security system
* Presence of a signed informed consent (patient or parents) at the time of inclusion

Exclusion Criteria:

\- Lack of consent