Natural History of Rett Syndrome & Related Disorders

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Brief Title

Natural History of Rett Syndrome & Related Disorders

Official Title

Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol

Brief Summary

      The purpose of this study is to advance understanding of the natural history of Rett syndrome
      (RTT), MECP2-duplication disorder (MECP2 Dup), CDKL5, FOXG1, and individuals with MECP2
      mutations who do not have RTT including the range of clinical involvement and to correlate
      genotype-phenotype over a broad spectrum of phenotypes. While much has been learned about
      RTT, improvements are required in understanding the role of factors such as X chromosome
      inactivation, genetic background, and others including the environment, on the great
      variability observed even between individuals with the same MECP2 mutation. These data will
      be essential to the development and conduct of clinical trials that are anticipated from
      ongoing studies in animal models for RTT. This study will not include clinical trials, but
      should set the stage for such trials and other translational research projects (e.g.,
      development of biomarkers).
    

Detailed Description

      At the present time, effective treatments for RTT, MECP2 Dup, or Rett-related disorders are
      lacking. Substantial progress has been made in RTT over the past eleven years such that this
      study represents a narrowing of focus to mutations or duplications of the MECP2 gene and
      related disorders, including those with phenotypic overlap. Understanding of RTT has advanced
      remarkably well through the Rett Syndrome Natural History Clinical Protocol (NHS) and
      correspondingly advancement in the basic science realm has moved forward with equivalent
      success. Thus, progress in clinical and basic science has led to the establishment of
      clinical trials and other translational studies that hold promise for additional clinical
      trials in future. In the process, however, additional MECP2- and RTT-related disorders that
      were unknown at the time the original proposal have been identified. In addition, substantial
      clinical variability in individuals with RTT that cannot be explained by differences in
      mutations alone must be explored further. In fact, variability among individuals with
      identical mutations has led to the search for additional explanations. At the time of the
      initial application (2002), just three years after the identification of the gene, MECP2, as
      the molecular link to RTT, the variation in clinical disorders related to MECP2 mutations or
      to the related but quite different MECP2 Dup were unknown. Each disorder is characterized by
      significant neurodevelopmental features related either to alterations in the MECP2 gene or
      related to phenotypes closely resembling those seen in individuals with RTT. Further, the
      phenotypic overlap with RTT due to mutations in CDKL5 and FOXG1 was also unexplored. This new
      study will build on the substantial progress made in understanding both classic and variant
      RTT and to add these related disorders, MECP2 Dup and the Rett-related disorders including
      CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT. A comprehensive
      clinical research program will be performed including clinical, neurophysiologic, and
      molecular and biochemical markers across these different, but related disorders. This
      protocol will address the natural history components only and will serve as the basis for
      other study protocols including the neurophysiologic and biomarker studies. Thereby, these
      studies will represent a continuing pathway to focus and inform not only the ongoing but also
      the emerging clinical trials.
    


Study Type

Observational


Primary Outcome

Clinical longitudinal assessments in Rett syndrome (RTT) as measured by mean growth over 5 years.

Secondary Outcome

 Quality of Life Measures in RTT

Condition

Rett Syndrome


Study Arms / Comparison Groups

 Rett Syndrome
Description:  This is a prospective natural history study examining the phenotypic variations of individuals with mutations in MECP2 or meeting the diagnostic criteria for classic (typical) or variant (atypical) Rett syndrome. The overwhelming majority will be female, but males meeting diagnostic criteria will be included. No interventions are planned.

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

1044

Start Date

November 2015

Completion Date

July 31, 2021

Primary Completion Date

July 31, 2021

Eligibility Criteria

        Inclusion Criteria:

          -  Individuals of both genders and of all ages, with RTT, MECP2 Dup, and, RTT-related
             disorders including those with mutations or deletions in CDKL5 and FOXG1 genes, or
             those with RTT (atypical or typical) who are mutation negative.

        Exclusion Criteria:

          -  Individuals who do not meet the above criteria will be excluded.
      

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

NCT02738281

Organization ID

RDCRN 5211


Responsible Party

Principal Investigator

Study Sponsor

University of Alabama at Birmingham

Collaborators

 National Institutes of Health (NIH)

Study Sponsor

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


Verification Date

August 2021