Genetic and Physical Characteristics of Rett Syndrome - Full Text View

Purpose

Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2. The disorder is characterized by multiple developmental problems, as well as behavioral symptoms, such as repetitive stereotypic hand movements, including hand washing, wringing, and tapping. While there is no cure for RTT, recent advances in the understanding of the disease suggest that the development of new, effective therapies is promising. This study will gather information on the genetic defects that cause RTT, the physical expressions of these defects, and disease progression. In turn, this may direct the development of future treatments.

Condition

Rett Syndrome

Genetics Home Reference related topics:

familial encephalopathy with neuroserpin inclusion bodies L1 syndrome Rett syndrome

MedlinePlus related topics:

Rett Syndrome

U.S. FDA Resources

Study Type:	Observational
Study Design:	Cohort, Prospective

Official Title:	Rett Syndrome Natural History

Further study details as provided by Office of Rare Diseases (ORD):

Biospecimen Retention: None Retained

Biospecimen Description:

Estimated Enrollment:	1100
Study Start Date:	March 2006
Estimated Study Completion Date:	July 2008
Estimated Primary Completion Date:	July 2008 (Final data collection date for primary outcome measure)

Detailed Description:

RTT is a brain disorder that causes problems with childhood development. It is usually caused by an abnormality (mutation) in the gene MECP2. RTT can cause severe impairments in movement and communication skills, including talking and social interaction. The first signs of RTT include loss of acquired speech and loss of purposeful hand use for activities such as eating or playing. Individuals may also develop abnormal walking, repetitive hand movements, such as clapping or wringing, and abnormal breathing while awake.

Effective treatments for RTT are currently lacking. There is also inadequate information about the link between RTT's clinical features and its genetic basis. In order to prepare for future clinical trials that may lead to effective therapies, it is important to collect accurate information about the characteristics of RTT and the pattern of disease progression. This study will gather historical and physical examination data to establish phenotype-genotype correlations. Data on survival and quality of life in females with RTT and males with MECP2 gene mutations will also be evaluated.

Participants in this observational study will be recruited from the three sites at which the study is being conducted, as well as through the Rare Disease Clinical Research Network and the International Rett Syndrome Association (IRSA). Prior to study entry, potential participants are expected to be tested for a mutation in the MECP2 gene. No treatment will be administered at any time during this study. Study visits will occur every 6 months until the child is 12 years old and once a year for 5 years thereafter. At each study visit, participants will be examined to assess physical effects of the disease, such as motor behavior and disease severity. Additionally, participants will complete questionnaires about medical history, contact information, and quality of life. The first visit will last approximately 1.5 hours, and every subsequent visit will last approximately 1 hour.

Eligibility

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

Study Population

Individuals fulfilling consensus clinical criteria for Classic or Variant Rett Syndrome or individuals with MECP2 mutations who do not meet the clinical criteria.

Criteria

Inclusion Criteria:

Meets clinical criteria for classic or variant RTT or tests positive for an MECP2 gene mutation

Exclusion Criteria:

Unwilling or unable to travel to study sites for annual or biannual evaluations

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00299312

Contacts


Contact: Daniel Glaze, MD	713-798-7388	dglaze@tmh.tmc.edu

Contact: Judy Barrish, RN, BSN	832-822-1781	jobarris@texaschildrenshospital.org

Locations


United States, Alabama
	University of Alabama at Birmingham	Recruiting
	Birmingham, Alabama, United States, 35294
	Contact: Jane Lane, RN, BSN 205-934-1130 jlane@uab.edu
	Principal Investigator: Alan Percy, MD

United States, South Carolina
	Greenwood Genetic Center	Recruiting
	Greenwood, South Carolina, United States, 29646
	Principal Investigator: Mike Friez, PhD
	Principal Investigator: Steve Skinner, MD

United States, Texas
	Baylor College of Medicine	Recruiting
	Houston, Texas, United States, 77030
	Contact: Judy Barrish, RN, BSN 832-822-1781 jobarris@texaschildrenshospital.org
	Principal Investigator: Daniel Glaze, MD

Sponsors and Collaborators

Office of Rare Diseases (ORD)

Rare Diseases Clinical Research Network

University of Alabama at Birmingham

Greenwood Genetics Center

Baylor College of Medicine

Investigators


Principal Investigator:	Daniel Glaze, MD	Baylor College of Medicine

More Information

Click here for the International Rett Syndrome Association website This link exits the ClinicalTrials.gov site

Publications:

Colvin L, Leonard H, de Klerk N, Davis M, Weaving L, Williamson S, Christodoulou J. Refining the phenotype of common mutations in Rett syndrome. J Med Genet. 2004 Jan;41(1):25-30. No abstract available.

Huppke P, Held M, Laccone F, Hanefeld F. The spectrum of phenotypes in females with Rett Syndrome. Brain Dev. 2003 Aug;25(5):346-51.

Johnston MV, Mullaney B, Blue ME. Neurobiology of Rett syndrome. J Child Neurol. 2003 Oct;18(10):688-92. Review.

Laccone F, Junemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mutat. 2004 Mar;23(3):234-44. Erratum in: Hum Mutat. 2004 Apr;23(4):395.

Schanen C, Houwink EJ, Dorrani N, Lane J, Everett R, Feng A, Cantor RM, Percy A. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet A. 2004 Apr 15;126(2):129-40.

Responsible Party:	Baylor College of Medicine ( Daniel Glaze, MD )
Study ID Numbers:	RDCRN 5201, RR019478, ARP 5201
First Received:	March 3, 2006
Last Updated:	February 19, 2008
ClinicalTrials.gov Identifier:	NCT00299312
Health Authority:	United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):

Loss of Purposeful Hand Use Syndrome

Study placed in the following topic categories:

Developmental Disabilities

Rett syndrome

Neurodegenerative Diseases

Mental Retardation

Child Development Disorders, Pervasive

Rett Syndrome

Heredodegenerative Disorders, Nervous System

Genetic Diseases, Inborn

Mental Disorders

Mental Disorders Diagnosed in Childhood

Genetic Diseases, X-Linked

Neurologic Manifestations

Neurobehavioral Manifestations

Additional relevant MeSH terms:

Pathologic Processes

Disease

Syndrome

Nervous System Diseases

Mental Retardation, X-Linked

ClinicalTrials.gov processed this record on September 05, 2008

Sponsors and Collaborators:	Office of Rare Diseases (ORD) Rare Diseases Clinical Research Network University of Alabama at Birmingham Greenwood Genetics Center Baylor College of Medicine
Information provided by:	Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:	NCT00299312