Brain Development Research Program
Sponsor
University of California, San Francisco (Other)
Overall Status
Recruiting
CT.gov ID
NCT00305305
Collaborator
University of Washington (Other), California Institute of Technology (Other)
2,000
1
257.1
7.8
Study Details
Study Description
Brief Summary
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 or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
|
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 saliva or blood samples from the affected individual and from the parents. Please see contact information and our webpage below.
Study Design
Study Type:
Observational
Anticipated Enrollment
:
2000 participants
Observational Model:
Cohort
Time Perspective:
Prospective
Official Title:
Disorders of Cerebral Development: A Phenotypic and Genetic Analysis
Study Start Date
:
Aug 1, 2003
Anticipated Primary Completion Date
:
Jan 1, 2025
Anticipated Study Completion Date
:
Jan 1, 2025
Outcome Measures
Primary Outcome Measures
Eligibility Criteria
Criteria
Ages Eligible for Study:
N/A
and Older
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
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
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University of California, San francisco | San Francisco | California | United States | 94143 |
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
Study Documents (Full-Text)
None provided.More Information
Additional Information:
- Click here for more information about this study: Agenesis of the Corpus Callosum, Genetics and Clinical features
- National Organization of the Disorders of the Corpus Callosum (a non-profit corporation)
- UCSF Clinical Trials
Publications
- Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH. De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. J Med Genet. 2020 Jul;57(7):461-465. doi: 10.1136/jmedgenet-2019-106193. Epub 2020 Jan 10.
- Edwards TJ, Sherr EH, Barkovich AJ, Richards LJ. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 2014 Jun;137(Pt 6):1579-613. doi: 10.1093/brain/awt358. Epub 2014 Jan 28. Review.
- Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14.
- 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. doi: 10.1002/ajmg.a.32418.
- Johnson-Kerner B, Snijders Blok L, Suit L, Thomas J, Kleefstra T, Sherr EH. DDX3X-Related Neurodevelopmental Disorder. 2020 Aug 27. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from http://www.ncbi.nlm.nih.gov/books/NBK561282/
- Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ. Autism traits in individuals with agenesis of the corpus callosum. J Autism Dev Disord. 2013 May;43(5):1106-18. doi: 10.1007/s10803-012-1653-2.
- Owen JP, Li YO, Ziv E, Strominger Z, Gold J, Bukhpun P, Wakahiro M, Friedman EJ, Sherr EH, Mukherjee P. The structural connectome of the human brain in agenesis of the corpus callosum. Neuroimage. 2013 Apr 15;70:340-55. doi: 10.1016/j.neuroimage.2012.12.031. Epub 2012 Dec 23.
- 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. doi: 10.3174/ajnr.A1331. 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. doi: 10.1002/ajmg.a.33025.
Responsible Party:
University of California, San Francisco
ClinicalTrials.gov Identifier:
NCT00305305
Other Study ID Numbers:
- UCSF-PCRC #2206
First Posted:
Mar 21, 2006
Last Update Posted:
Aug 5, 2022
Last Verified:
Aug 1, 2022
Keywords provided by University of California, San Francisco
Additional relevant MeSH terms: