Trial record 2 of 2 for: "Aicardi syndrome"

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Brain Development Research Program

This study is currently recruiting participants.

Verified May 2013 by University of California, San Francisco

Sponsor:

Collaborators:

University of Washington

California Institute of Technology

Information provided by (Responsible Party):

University of California, San Francisco

ClinicalTrials.gov Identifier:

NCT00305305

First received: March 17, 2006

Last updated: May 16, 2013

Last verified: May 2013

History of Changes

Purpose

Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus callosum, such as Aicardi syndrome, as well as two additional brain malformations, polymicrogyria and Dandy-Walker malformation. The goal of the investigators' research is to use a better understanding of the underlying genetic causes as a foundation to develop better treatments for these groups of patients.

Condition
Brain Disorders Aicardi Syndrome

Study Type:	Observational
Study Design:	Observational Model: Cohort Time Perspective: Prospective
Official Title:	Disorders of Cerebral Development: A Phenotypic and Genetic Analysis

Resource links provided by NLM:

Genetics Home Reference related topics: Aicardi syndrome Lenz microphthalmia syndrome oculofaciocardiodental syndrome Peters plus syndrome polymicrogyria pyridoxal 5'-phosphate-dependent epilepsy

MedlinePlus related topics: Brain Diseases Epilepsy

U.S. FDA Resources

Further study details as provided by University of California, San Francisco:

Estimated Enrollment:	2000
Study Start Date:	August 2003

Detailed Description:

We are studying both the genetics and clinical features of these disorders. We hope to understand the problems faced by individuals with these disorders as well as their causes. In the future, we hope to develop therapies that are geared specifically for individuals based on the underlying biology. To participate in the study, you will be asked to provide a copy of the magnetic resonance imaging (MRI) documenting ACC, PMG, or DWM, clinical information, and blood samples from the affected individual and from the parents. Please see contact information and our webpage below.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Individuals with agenesis or dysgenesis of the corpus callosum, polymicrogyria, or cerebellar hypoplasia.

Criteria

Inclusion Criteria:

Clinical diagnosis of agenesis or dysgenesis of the corpus callosum, polymicrogyria, or Dandy-Walker malformation
Should be confirmed by an MRI (Magnetic Resonance Imaging) of the brain

Exclusion Criteria:

Fully formed but hypoplastic corpus callosum

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00305305

Contacts

Contact: Brieana M Fregeau, BA	415-502-8039	FregeauB@neurology.ucsf.edu
Contact: Polina Bukshpun, BA	415-502-8039	bukshpunp@neuropeds.ucsf.edu

Locations

United States, California
University of California, San francisco	Recruiting
San Francisco, California, United States, 94143
Sub-Investigator: Anne Slavotinek, MD
Sub-Investigator: Elysa Marco, MD
Sub-Investigator: Rita J Jeremy, PhD

Sponsors and Collaborators

University of California, San Francisco

University of Washington

California Institute of Technology

Investigators

Principal Investigator:	Elliott H Sherr, MD, PhD	University of California, San Francisco
Principal Investigator:	James Barkovich, MD	University of California, San Francisco
Principal Investigator:	Pratik Mukherjee, MD, PhD	University of California, San Francisco

More Information

Additional Information:

National Organization of the Disorders of the Corpus Callosum (a non-profit corporation) This link exits the ClinicalTrials.gov site

Publications:

Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek AM, Hetts SW, Jeremy RJ, Schilmoeller G, Schilmoeller K, Wakahiro M, Barkovich AJ. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology. 2005 Nov 8;65(9):1496-8.

Hetts SW, Sherr EH, Chao S, Gobuty S, Barkovich AJ. Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. AJR Am J Roentgenol. 2006 Nov;187(5):1343-8.

Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, Sherr EH. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007 Apr;8(4):287-99. Review.

Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. Am J Med Genet A. 2007 Aug 15;143A(16):1900-5.

Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet. 2007 Aug;81(2):292-303. Epub 2007 Jun 13.

Wahl M, Strominger Z, Jeremy RJ, Barkovich AJ, Wakahiro M, Sherr EH, Mukherjee P. Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study. AJNR Am J Neuroradiol. 2009 Feb;30(2):282-9. Epub 2008 Nov 11.

Nakata Y, Barkovich AJ, Wahl M, Strominger Z, Jeremy RJ, Wakahiro M, Mukherjee P, Sherr EH. Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study. AJNR Am J Neuroradiol. 2009 Jun;30(6):1142-8. Epub 2009 Feb 26.

Wahl M, Li YO, Ng J, Lahue SC, Cooper SR, Sherr EH, Mukherjee P. Microstructural correlations of white matter tracts in the human brain. Neuroimage. 2010 Jun;51(2):531-41. Epub 2010 Mar 4.

Wahl M, Strominger ZA, Wakahiro M, Jeremy RJ, Mukherjee P, Sherr EH. Diffusion tensor imaging of Aicardi syndrome. Pediatr Neurol. 2010 Aug;43(2):87-91.

O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A. 2010 Sep;152A(9):2145-59.

Glass HC, Shaw GM, Ma C, Sherr EH. Agenesis of the corpus callosum in California 1983-2003: a population-based study. Am J Med Genet A. 2008 Oct 1;146A(19):2495-500.

Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA. Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. AJNR Am J Neuroradiol. 2009 Feb;30(2):257-63. Epub 2008 Nov 6.

Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group; Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct;149A(10):2173-80.

Responsible Party:	University of California, San Francisco
ClinicalTrials.gov Identifier:	NCT00305305 History of Changes
Other Study ID Numbers:	UCSF-PCRC #2206
Study First Received:	March 17, 2006
Last Updated:	May 16, 2013
Health Authority:	United States: Institutional Review Board

Keywords provided by University of California, San Francisco:

Aicardi Syndrome.
Agenesis Corpus Callosum
Polymicrogyria
Dandy-Walker
Brain Malformation
Autism

Epilepsy
Mental Retardation
MRI
Agenesis of the Corpus Callosum (complete or partial)
Confirmed by a brain MRI.

Additional relevant MeSH terms:

Brain Diseases
Aicardi Syndrome
Central Nervous System Diseases
Nervous System Diseases
Nervous System Malformations

Eye Diseases, Hereditary
Eye Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked

ClinicalTrials.gov processed this record on June 18, 2013

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