Trial record 2 of 2 for:    Aicardi Syndrome

Brain Development Research Program

This study is currently recruiting participants. (see Contacts and Locations)
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
  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:


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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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:
Publications:
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 July 24, 2014