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Trial record 11 of 11 for:    Cavernous Malformation

Genetic Disease Gene Identification

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00916903
Recruitment Status : Unknown
Verified June 2009 by State University of New York - Upstate Medical University.
Recruitment status was:  Enrolling by invitation
First Posted : June 10, 2009
Last Update Posted : June 10, 2009
Information provided by:
State University of New York - Upstate Medical University

Brief Summary:

This is a a study to identify inherited disease genes. The study will use molecular techniques to map genetic diseases using techniques such as Affymetrix SNP chips. The powerful combination of the information generated by the Human Genome Project and technical advances such as microarrays enables attempts to identify genes responsible for inherited disorders more possible than ever before. Starting with even modest pedigrees of only a few individuals, or even single individuals, it is possible to identify the gene(s) involved. It is proposed to collect up to 20 ml of peripheral blood and/or buccal cell samples from subjects and relevant family members. Currently the following disorders are approved for investigation.

The current list of disorders:

Aarskog-Scott syndrome, Café-au-Lait spots, Cerebral cavernous malformation, delXp, del2q, del10p, del11q, del12p, del13q, del14q, del16q, del17q, del18q, del Xp21, Choreoathetosis, Congenital Vertical Talus (CVT), Clubfoot, Tarsal coalition and other congenital limb deformities, Cystic Fibrosis (CF)-like disease, Desbuquois syndrome, Droopy Eyelid syndrome (Ptosis), Fanconi-Bickel syndrome (FBS), FENIB (familial encephalopathy with neuroserpin inclusion bodies), FG syndrome, Idiopathic generalised epilepsy (IGE), Renpenning syndrome, transient neonatal diabetes with 6q UPD, translocation (13;14), translocation (3;8), translocation (2;18), Uncharacterized familial dementia and X-linked mental retardation (XLMR).

Condition or disease
Congenital Vertical Talus Familial Encephalopathy With Neuroserpin Inclusion Bodies Idiopathic Generalised Epilepsy Familial Dementia X-Linked Mental Retardation

Detailed Description:

It is proposed to identify and recruit individuals and/or families with specified the disorders listed above. 10-20 ml (2-4 teaspoons) of peripheral blood will be collect¬ed from all adult subjects. Smaller volumes of blood would be collected from children based on their age/size. In some cases, as an adequate alternative to collecting peripheral blood, buccal cells will be collected using cheek swabs (Epicentre Biotechnologies). All relevant living members of each pedigree will be asked to partici¬pate, free of charge, on a research basis only. Genomic DNA will be extracted by standard methods and used as template for Polymerase Chain Reac¬tion (PCR) amplification reactions. Individuals will be genotyped at markers and candidate gene sequenced.

Essentially two approaches will be used:

  1. Circumstances that may provide knowledge of candidate genes include reviews of the literature, biology of the disease, understanding of biological pathways, chromosomal rearrangements, mutants in model organisms etc. When candidate genes exist, it is proposed to use linked microsatellite and/or single nucleotide polymorphism (SNP) PCR primer pairs on the DNA from families to determine if there is co-segregation of the disease and markers and thus linkage between the disease gene and previously mapped markers.

    If the disease appears to be linked to the candidate gene, PCR primers flanking all coding exons will be used to amplify the exons and intron/exon boundaries followed by sequencing to detect disease-causing mutations. A web site that enables the design of primers to amplify candidate gene exons is available ( ). If a very strong candidate gene exists, candidate gene sequencing will be performed on affected individual samples without first performing a linkage study.

  2. When no obvious candidate genes exist, and a family of sufficient size has been collected, it is proposed to use Affymetrix SNP microarrays to perform a human genome-wide search for linkage. We have used this approach successfully before (Shrimpton et al 2004), utilizing the whole genome linkage analysis with the Human Mapping 10K Array (Affymetrix Inc., Santa Clara, CA). The 10K Array permits the simultaneous genotyping of more than 11,200 mapped SNPs spaced throughout the human genome at 210 KB intervals. Affymetrix 100K and 500K arrays are also available. SNP genotype information will be analyzed using Varia (Silicon Genetics) and/or Merlin software. The data will be used to define a critical region. If statistically significant segregation is detected, candidate genes within the critical region will be evaluated and ranked in order of their likelihood of being the disease gene. Candidate genes will then be sequenced as detailed above.


  1. Identify candidate disease genes from linkage studies, strong circumstantial evidence or clues from the phenotype.
  2. Sequence candidate genes to detect disease-causing mutations.
  3. Evaluation of detected variation.

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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Family-Based
Time Perspective: Retrospective
Official Title: Genetic Disease Gene Identification
Study Start Date : October 2005
Estimated Primary Completion Date : October 2010
Estimated Study Completion Date : October 2010

Patients with genetic condition being studied.
Matched controls

Primary Outcome Measures :
  1. Identification of gene/mutation responsible for disorder.

Biospecimen Retention:   Samples With DNA
DNA will be isolated from peripheral blood or cheek scraoes.

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients and their families identified by physicians.

Inclusion Criteria:

  • Patients and their families identified by physicians.

Exclusion Criteria:

  • Patients with unrelated disorders.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00916903

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United States, New York
SUNY Upstate Medical University
Syracuse, New York, United States, 13210
Sponsors and Collaborators
State University of New York - Upstate Medical University
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Principal Investigator: Antony E Shrimpton, PhD State University of New York - Upstate Medical University

Publications of Results:

Other Publications:
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Responsible Party: Antony E Shrimpton PhD, Assoc Prof, SUNY Upstate Medical University Identifier: NCT00916903     History of Changes
Other Study ID Numbers: IRBPHS#4280F
First Posted: June 10, 2009    Key Record Dates
Last Update Posted: June 10, 2009
Last Verified: June 2009

Keywords provided by State University of New York - Upstate Medical University:
mental retardation

Additional relevant MeSH terms:
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Foot Deformities, Acquired
Foot Deformities
Foot Deformities, Congenital
Lower Extremity Deformities, Congenital
Limb Deformities, Congenital
Musculoskeletal Abnormalities
Congenital Abnormalities
Brain Diseases
Genetic Diseases, Inborn
Intellectual Disability
Epilepsy, Generalized
Mental Retardation, X-Linked
Epilepsies, Myoclonic
Heredodegenerative Disorders, Nervous System
Central Nervous System Diseases
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Signs and Symptoms
Neurodevelopmental Disorders
Mental Disorders
Genetic Diseases, X-Linked
Neurocognitive Disorders
Epileptic Syndromes
Neurodegenerative Diseases
Musculoskeletal Diseases