MedDataX Logo

Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy

NCT ID: NCT03293134

Last Updated: 2017-09-26

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

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

25 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-07-08

Study Completion Date

2016-10-06

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

As principal objective, the study aims to:

1. Describe the spectrum and evaluate the frequency of angiodysplasia of the nevrax;
2. Establish the physiopathological basis of Fowler's syndrome;
3. Identify FLVCR2 partners and the signaling pathways involved;
4. Test new candidate genes: GPR124 and possible partners of FLVCR2.

As second objective, the study aims to:

* perform phenotype / genotype correlation if necessary;
* and propose a prenatal diagnosis in families with identified mutations.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Proliferative Vasculopathy

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

OTHER

Study Time Perspective

OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Angiodysplasia restricted to central nervous system with or without glomerular vasculopathy.
* Informed consent signed.

Exclusion Criteria

* Vascular malformations not confined to the nevrax.
* No signature of consent.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Tania Attié-Bitach, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Hôpital Necker Enfants Malades, APHP

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Hôpital Necker Enfants Malades, APHP

Paris, , France

Site Status

Countries

Review the countries where the study has at least one active or historical site.

France

References

Explore related publications, articles, or registry entries linked to this study.

Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonniere M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerriere A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attie-Bitach T. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat. 2010 Oct;31(10):1134-41. doi: 10.1002/humu.21329.

Reference Type RESULT
PMID: 20690116 (View on PubMed)

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

NI11031

Identifier Type: -

Identifier Source: org_study_id