Genetic and Physical Characteristics of Rett Syndrome

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Brief Title

Genetic and Physical Characteristics of Rett Syndrome

Official Title

Rett Syndrome Natural History: Genetic and Physical Characteristics of Rett Syndrome

Brief Summary

      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 features, 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. Expanded studies
      include individuals with MECP2 Duplication disorder, and RTT-related disorders including
      individuals with MECP2 mutations, but not meeting obligatory criteria for the diagnosis of
      RTT and individuals with mutations in CDKL5 and FOXG1 some of whom meet criteria for atypical
      RTT.
    

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 speech 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 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.

      MECP2 Duplication disorder affects principally males who have one and rarely more than one
      additional copy of MECP2 as well as a variable number of other duplicated genes. These males
      have absent spoken language, shuffling gait, epilepsy, and, in some, frequent upper
      respiratory infections or sinusitis. Mother of these males are generally normal due to
      favorable skewing of X-chromosome inactivation, but in some instances may have
      neurodevelop-mental delays. Effective treatments are lacking. It is critical to develop
      phenotype-genotype correlations and longitudinal natural history data to assist the conduct
      of clinical trials.

      RTT-related disorders feature a variety of involvements either due to MECP2, CDKL5, and FOXG1
      as well as other potential causes of atypical RTT. Phenotype-genotype studies and
      longitudinal natural history data are essential to the conduct of future clinical trials.

      Participants in this observational study will be recruited from the four 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 6 years old and once a year thereafter. At each study visit, participants will be
      examined to assess physical characteristics of the disorder, 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.
    


Study Type

Observational


Primary Outcome

Genetic and Physical Characteristics of Rett Syndrome

Secondary Outcome

 Genetic and Physical Characteristics of Rett syndrome

Condition

Rett Syndrome



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

10

Start Date

March 2006

Completion Date

October 2015

Primary Completion Date

October 2015

Eligibility Criteria

        Inclusion Criteria:

          -  Meets clinical criteria for classic or variant RTT or tests positive for an MECP2 gene
             mutation or a MECP2 duplication or a mutation in CDKL5 or FOXG1.

        Exclusion Criteria:

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

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Alan K Percy, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00299312

Organization ID

RDCRN 5201

Secondary IDs

U54HD061222

Responsible Party

Principal Investigator

Study Sponsor

University of Alabama at Birmingham

Collaborators

 Rare Diseases Clinical Research Network

Study Sponsor

Alan K Percy, MD, Principal Investigator, University of Alabama at Birmingham


Verification Date

March 2017