Natural History of Rett Syndrome & Related Disorders
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ClinicalTrials.gov Identifier: NCT02738281 |
Recruitment Status :
Recruiting
First Posted : April 14, 2016
Last Update Posted : March 10, 2021
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Condition or disease |
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Rett Syndrome MECP2 Duplication dIsorder CDKL5 Disorder FOXG1 Syndrome |
Study Type : | Observational |
Estimated Enrollment : | 1200 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol |
Study Start Date : | November 2015 |
Estimated Primary Completion Date : | July 2021 |
Estimated Study Completion Date : | December 2021 |

Group/Cohort |
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Rett Syndrome
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.
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MECP2 Duplication
This is a prospective natural history study examining the phenotypic variations of individuals with MECP2 duplications. The majority are expected to be males, but females expressing a duplication will be included. No interventions are planned.
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RTT related disorders
This is a prospective natural history study examining individuals, both females and males who do not meet criteria for Rett syndrome, but have a mutation in MECP2, CDKL5, or FOXG1. No interventions are planned.
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- Clinical longitudinal assessments in Rett syndrome (RTT) as measured by mean growth over 5 years. [ Time Frame: at 5 years after enrollment ]subject's height will be measured in inches at baseline and at 5 years. The change will be calculated and then the mean change will be reported.
- Clinical and neurobehavioral longitudinal assessments in Rett syndrome (RTT) as measured by mean change in head circumference over 5 years [ Time Frame: at 5 years after enrollment ]the mean change in head circumference (measured in Centimeters) will be reported
- Clinical and neurobehavioral longitudinal assessments in Rett syndrome (RTT) as measured by mean number of stereotypic movements at 5 years [ Time Frame: at 5 years after enrollment ]The mean number of stereotypic movements in a 24 hour period at 5 years.
- Clinical and neurobehavioral longitudinal assessments in Rett syndrome (RTT) as the percent of subjects with reported epilepsy at 5 years [ Time Frame: 5 years after enrollment ]The Percent of subjects reporting epilepsy by 5 years
- Clinical and neurobehavioral longitudinal assessments in Rett syndrome (RTT) as the percent of subjects with reported scoliosis at 5 years [ Time Frame: at 5 years after enrollment ]Percent of subjects with reported scoliosis
- Clinical and neurobehavioral longitudinal assessments in Rett syndrome (RTT) as the percent of subjects with MECP2 mutations at 5 years [ Time Frame: at 5 years after enrollment ]% of subjects with MECP2 mutations to 5 years
- Clinical and neurobehavioral longitudinal assessments in Rett syndrome (RTT) as reported by the mean Clinical Severity Scale (CSS) at 5 years [ Time Frame: at 5 years after enrollment ]The CSS is the clinical severity scale.
- Clinical and neurobehavioral longitudinal assessments in Rett syndrome (RTT) as measured by the mean Motor Behavioral Assessment (MBA) at 5 years [ Time Frame: at 5 years after enrollment ]the MBA is the motor behavioral (performance) score
- Clinical and neurobehavioral longitudinal assessments in MECP2 duplication syndrome: mean growth rate over 5 years with subjects having MECP2 duplication syndrome [ Time Frame: at 5 years after enrollment ]subject's height will be measured in inches at baseline and at 5 years. The change will be calculated and then the mean change will be reported.
- Clinical and neurobehavioral longitudinal assessments in MECP2 duplication syndrome: mean change in head circumference 5 years with subjects having MECP2 duplication syndrome [ Time Frame: at 5 years after enrollment ]the mean change in head circumference (measured in Centimeters) will be reported
- Clinical and neurobehavioral longitudinal assessments in MECP2 duplication syndrome: mean number of stereotypic movements in a 24 hour period at 5 years with subjects having MECP2 duplication syndrome [ Time Frame: at 5 years after enrollment ]The mean number of stereotypic movements in a 24 hour period at 5 years.
- Clinical and neurobehavioral longitudinal assessments in MECP2 duplication syndrome: percent of subjects reporting scoliosis 5 years with subjects having MECP2 duplication syndrome [ Time Frame: at 5 years after enrollment ]Percent of subjects with reported scoliosis
- Clinical and neurobehavioral longitudinal assessments in MECP2 duplication syndrome: percent of subjects surviving at 5 years with subjects having MECP2 duplication syndrome [ Time Frame: at 5 years after enrollment ]Percent of subjects surviving at 5 years after start of study
- Clinical and neurobehavioral longitudinal assessments in MECP2 duplication syndrome: the mean CSS score at 5 years with subjects having MECP2 duplication syndrome [ Time Frame: at 5 years after enrollment ]the CSS........
- Clinical and neurobehavioral longitudinal assessments in MECP2 duplication syndrome: the mean MAB score at 5 years with subjects having MECP2 duplication syndrome [ Time Frame: at 5 years after enrollment ]the MBA........
- Quality of Life Measures in RTT [ Time Frame: at 5 years post enrollment ]Summative data are provided by the quality of life assessments for children (CHQ), the mean score will.be reported
- Quality of Life Measures in MECP2 duplication syndrome [ Time Frame: at 5 years post enrollment ]Summative data are provided by the quality of life assessments for children (CHQ), the mean scores will be reported.
- Quality of Life Measures in RTT-related disorders. [ Time Frame: at 5 years post enrollment ]Summative data are provided by the quality of life assessments for children (CHQ), the mean score will be reported.
- Quality of Life Measures in RTT [ Time Frame: at 5 years post enrollment ]Summative data are provided by the quality of life assessments from the principal caregiver (SF-36), the mean score will be reported.
- Quality of Life Measures in MECP2 duplication syndrome [ Time Frame: at 5 years post enrollment ]Summative data are provided by the quality of life assessments from the principal caregiver (SF-36), the mean score will be reported.
- Quality of Life Measures in RTT-related disorders [ Time Frame: at 5 years post enrollment ]Summative data are provided by the quality of life assessments from the principal caregiver (SF-36), the mean score will be reported.

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Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
Females and males of all ages must have complete testing for MECP2, FOXG1 and CDKL5 genes mutations AND must meet these requirements:
Gene positive for a sequence mutation, duplication or deletion in one of these 3 genes.
OR Meet consensus criteria for Rett syndrome (typical or atypical)
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.

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): NCT02738281
Contact: Alan K Percy, MD | 2059964927 | apercy@uab.edu | |
Contact: Jane B Lane, RN, BSN | 2059964927 | jlane@uab.edu |
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, California | |
UCSF Oakland Benioff Children's Hospital | Suspended |
Oakland, California, United States, 94709 | |
University of California San Diego | Recruiting |
San Diego, California, United States, 92123 | |
Contact: Karen Distlear, MS 858-246-2288 kditslear@ucsd.edu | |
Principal Investigator: Richard Haas, MD | |
United States, Colorado | |
University of Colorado Denver | Recruiting |
Denver, Colorado, United States, 80045-2571 | |
Contact: Gina VanderVeen 720-777-5514 Gina.VanderVeen@childrenscolorado.org | |
Principal Investigator: Tim Benke, MD, PhD | |
United States, Illinois | |
Rush University Medical Center | Recruiting |
Chicago, Illinois, United States, 60612 | |
Contact: Jeremiah Furman 312-942-2815 Jeremiah_Furman@rush.edu | |
Principal Investigator: Peter Heydemann, MD | |
Sub-Investigator: Elizabeth Berry-Kravis, MD | |
Sub-Investigator: Colleen Buhrfiend, MD | |
United States, Massachusetts | |
Children's Hospital Boston | Recruiting |
Boston, Massachusetts, United States, 02115 | |
Contact: Grace Bazin 617-355-5230 Grace.bazin@childrens.harvard.edu | |
Contact: Lindsay Swanson, MS, CGS 617-355-5230 Lindsay.Swanson@childrens.harvard.edu | |
Principal Investigator: Mustafa Sahin, MD, PhD | |
United States, Minnesota | |
Gillette Children's Specialty Healthcare | Recruiting |
Saint Paul, Minnesota, United States, 55101 | |
Contact: Katherine Harrison, MPH,CCRC 651-578-5883 KatherineAHarrison@gillettechildrens.com | |
Principal Investigator: Arthir Beisang, MD | |
United States, Missouri | |
Washington University School of Medicine and St. Louis Children's Hospital | Recruiting |
Saint Louis, Missouri, United States, 63110-1093 | |
Contact: Olga Novak 314-454-4267 rettresearch@neuro.wustl.edu | |
Principal Investigator: Robin Ryther, MD, PhD | |
United States, Ohio | |
Cincinnati Children's Hospital Medical Center | Recruiting |
Cincinnati, Ohio, United States, 45229 | |
Contact: Victor LaFay 513-803-1988 Victor.LaFay@cchmc.org | |
Principal Investigator: Shannon Standridge, DO | |
Cleveland Clinic | Recruiting |
Cleveland, Ohio, United States, 44195 | |
Contact: Irys Caristo 216-444-0173 CARISTI@ccf.org | |
Principal Investigator: Elia Pestana-Knight, MD | |
United States, Pennsylvania | |
Children's Hospital of Philadelphia | Recruiting |
Philadelphia, Pennsylvania, United States, 19104-4318 | |
Contact: Sarah Wozniak 267-426-5171 Wozniaks1@email.chop.edu | |
Principal Investigator: Eric Marsh, MD, PhD | |
United States, South Carolina | |
Greenwood Genetic Center | Recruiting |
Greenwood, South Carolina, United States, 29646 | |
Contact: Fran Annese, LMSW 864-941-8100 fran@ggc.org | |
Principal Investigator: Mike Friez, PhD | |
Principal Investigator: Steve A Skinner, MD | |
United States, Tennessee | |
Vanderbilt University | Recruiting |
Nashville, Tennessee, United States, 37212 | |
Contact: Nicole Thompson 615-343-4586 Nicole.i.thompson@vanderbilt.edu | |
Principal Investigator: Sar Peters, PhD | |
Sub-Investigator: Cary Fu, MD | |
United States, Texas | |
Baylor College of Medicine | Recruiting |
Houston, Texas, United States, 77030 | |
Contact: Moriah Marcogliese, BSN RN, B.COMM 832-822-1781 msmarcog@texaschilrdens.org | |
Principal Investigator: Daniel G Glaze, MD | |
Sub-Investigator: Bernhard Suter, MD, PhD | |
Sub-Investigator: Thuy Dinh, PA |
Principal Investigator: | Alan K Percy, MD | University of Alabama at Birmingham | |
Study Director: | Jeffrey L Neul, MD, PhD | Vanderbilt University |
Publications of Results:
Other Publications:
Responsible Party: | Alan Percy, Principal Investigator, University of Alabama at Birmingham |
ClinicalTrials.gov Identifier: | NCT02738281 |
Other Study ID Numbers: |
RDCRN 5211 |
First Posted: | April 14, 2016 Key Record Dates |
Last Update Posted: | March 10, 2021 |
Last Verified: | March 2021 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Yes |
Plan Description: | This consortium will follow the RDCRN agreement to share data. This plan releases data five years after acquisition. |
Rett Syndrome Disease Syndrome Pathologic Processes Mental Retardation, X-Linked Intellectual Disability |
Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Genetic Diseases, X-Linked Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System |