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Completed

NCT Number: NCT01097564

COL4A1 Gene Related Cerebra-retinal Angiopathy

This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.

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Key information

Conditions

Cerebra-retinal Angiopathy Brain Damage, Chronic Brain Diseases Central Nervous System Diseases Cerebral Palsy Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities Leukoencephalopathies Malformations of Cortical Development Malformations of Cortical Development, Group III Microcephaly Musculoskeletal Abnormalities Musculoskeletal Diseases Nervous System Diseases Nervous System Malformations Porencephaly

Sex eligibility

All sexes

Study type

Observational

Primary location

Hôpital LARIBOISIERE Neurology Department

Paris, 75010, France

About this study

150 index patients (children or young adult) will be prospectively recruited over three years according to eligibility criteria. Relatives will be also recruited.

Clinical, brain MRI-MRA and genetic testing (COL4A1 mutation screening) will be conducted for each included patient or asymptomatic relatives. 13 French investigating centres will be participating to the study.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Inclusion criteria

for the index patient :

  • Children and young adult (< 65 years)
  • Intracranial hemorrhage of unknown etiology
  • leukoencephalopathy
  • Any associated signs (including retinal arteriolar tortuosity, intracranial aneurysm, porencephaly, Infantile Cerebral Palsy, juvenile cataract)

Exclusion criteria

(for the index patient)

  • Hypertension
  • Diabetes
  • Other (than COL4A1) genetic small vessel diseases of the brain

Treatment and study plan

COL4A1 genetic testing

Genetic

genetic testing

Primary outcomes

  1. Implication of COL4A1 gene (and other related genes) in intracranial haemorrhages of unknown etiology in children and young adults and in brain diffuse small vessel diseases of unknown etiology in young adults.

    Time frame: at 36 months

Secondary outcomes

  1. To define the whole clinical, radiological and mutational spectrum of COL4A1 gene.

    Time frame: at 36 months

  2. To define any genotype-phenotype correlation in COL4A1 gene disease.

    Time frame: at 36 months

  3. Application of the results in daily clinical practice

    Time frame: at 36 months

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Collaborators

  • Ministry of Health, France

Registry information

Official study title

COL4A1 Gene Related Cerebra-retinal Angiopathy : Clinical Spectrum From Children to Adult, Mutational Spectrum and Application to Routine Management of Affected Patients : a Prospective Cohort Study

Acronym: COL4A1

Important dates

Study start
2010
Primary completion
2015
Study completion
2015
First posted
Apr 1, 2010
Registry last updated
Jan 15, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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