Ignite Creation Date:
2024-05-05 @ 4:40 PM
Last Modification Date:
2024-10-26 @ 9:23 AM
Study NCT ID:
NCT00299312
Status:
COMPLETED
Last Update Posted:
2017-03-16
First Post:
2006-03-03
Brief Title:
Genetic and Physical Characteristics of Rett Syndrome
Sponsor:
University of Alabama at Birmingham
Organization:
University of Alabama at Birmingham
Study Overview
Official Title:
Rett Syndrome Natural History Genetic and Physical Characteristics of Rett Syndrome
Status:
COMPLETED
Status Verified Date:
2017-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 15 hours and every subsequent visit will last approximately 1 hour
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 15 hours and every subsequent visit will last approximately 1 hour
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| ARP 5201 | US NIH GrantContract | None | httpsreporternihgovquickSearchU54HD061222 |
| U54HD061222 | NIH | None | None |