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Brain Development Research Program

This study is currently recruiting participants.
Verified January 2017 by University of California, San Francisco
Sponsor:
ClinicalTrials.gov Identifier:
NCT00305305
First Posted: March 21, 2006
Last Update Posted: January 11, 2017
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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborators:
University of Washington
California Institute of Technology
Information provided by (Responsible Party):
University of California, San Francisco
  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
Estimated Study Completion Date: January 2018
Estimated Primary Completion Date: January 2018 (Final data collection date for primary outcome measure)
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 Agenesis Corpus Callosum (ACC), Polymicrogyria (PMG), or Dandy-Walker malformation (DWM), clinical information, and blood samples from the affected individual and from the parents. Please see contact information and our webpage below.
  Eligibility

Information from the National Library of Medicine

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, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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
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 ClinicalTrials.gov identifier (NCT number): NCT00305305


Contacts
Contact: Brieana Fregeau, BA 7605338985 brieana.fregeau@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. doi: 10.1002/ajmg.a.33025.

Responsible Party: University of California, San Francisco
ClinicalTrials.gov Identifier: NCT00305305     History of Changes
Other Study ID Numbers: UCSF-PCRC #2206
First Submitted: March 17, 2006
First Posted: March 21, 2006
Last Update Posted: January 11, 2017
Last Verified: January 2017

Keywords provided by University of California, San Francisco:
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.
Aicardi Syndrome.

Additional relevant MeSH terms:
Brain Diseases
Aicardi Syndrome
Central Nervous System Diseases
Nervous System Diseases
Agenesis of Corpus Callosum
Nervous System Malformations
Eye Diseases, Hereditary
Eye Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked