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| Name | Class |
|---|---|
| The Johns Hopkins Institute for Clinical and Translational Research (ICTR) | UNKNOWN |
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Dr. Sakkubai Naidu, Principal Investigator, is initiating a double blinded placebo controlled clinical drug trial using dextromethorphan (DM) in Rett Syndrome (RTT), at the Pediatric Clinical Research Unit (PCRU) of the Johns Hopkins Hospital/Kennedy Krieger Institute. Funding source , FDA-00PD
It has been shown that receptors for a certain brain chemical called glutamate, in particular the NMDA type, are increased in the brain of young RTT patients (<10 years of age). This chemical and its receptors, when in excess, cause harmful over-stimulation of nerve cells in the brain, contributing in part to the seizures, behavioral problems, and learning disabilities in RTT.
The investigators propose to initiate a specific treatment using DM to counter/block the effects of this brain chemical and its excessive receptors to improve the ill effects of increased glutamate/NMDA receptors, because of DM's identified ability to block NMDA receptors. DM is available for human consumption. Infants and children with respiratory infections and cough, as well as non-ketotic hyperglycinemia, are treated with DM, which has been well tolerated.
The study will last for 3 months and will be limited to MECP2 mutation-positive children, one year - 9.99 years of age. This clinical trial, which is a placebo-controlled study, will randomize patients to the drug or placebo to determine the benefits of DM vs placebo on cognition, behavior, or seizures if present.
Your child will stay twice in the Pediatric Clinical Research Unit (PCRU) at Johns Hopkins ICTR, for 3 days during each admission. The first hospital stay will be for 3 days, before she starts the DM or placebo. The follow-up 3-day hospital stay will be 3 months after she starts taking DM or placebo. There will also be two interim follow up evaluations at 2 weeks and 1 month after she starts taking the DM or placebo consisting of a neurological evaluation, EKG, and blood work, which can take place at your local doctor's office or at Johns Hopkins, and will be paid for by this study. Our research nurse or research associate will contact you at least weekly during the first month, and at least monthly thereafter until the end of the 3-month study.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Study drug-dextromethorphan (DM) | Active Comparator | MECP2 mutation positive subjects randomized to receive DM |
|
| Placebo group | Placebo Comparator | MECP2 positive subjects randomized to the placebo compound |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| dextromethorphan | Drug | The DM group will take 5mg/kg/day orally in 2 divided doses 12 hours apart for the 3 month period of the study. The pharmacists will dispense the DM to the study participants. |
| Measure | Description | Time Frame |
|---|---|---|
| Change in Mullen; Visual Reception Sub-scale Scores, Pre- and Post-Intervention | The Mullen Scales of Early Learning (MULLEN) Visual reception subscale raw scores range from Minimum=0 to Maximum=50. A higher score is a better outcome. Age equivalents from 1 month to 70 months can be computed for each subscale separately. | Initial evaluation and at the end of the 3 month trial |
| Change in Mullen; Fine Motor Sub-scale Scores, Pre- and Post-Intervention | The Mullen Scales of Early Learning (MULLEN) Fine motor scale raw scores range from Minimum=0 to Maximum=49. A higher score is a better outcome. Age equivalents from 1 month to 70 months can be computed for each subscale separately. | Baseline and 3 months |
| Change in Mullen; Receptive Language Subscale Scores, Pre- and Post-Intervention | The Mullen Scales of Early Learning (MULLEN) Receptive Language scale raw scores range from Minimum=0 to Maximum=50. A higher score is a better outcome. Age equivalents from 1 month to 70 months can be computed for each subscale separately. | Baseline and 3 months |
| Change in Mullen, Expressive Language Sub-scale Scores, Pre- and Post-Intervention | The Mullen Scales of Early Learning (MULLEN) Expressive Language scale raw scores range from Minimum=0 to Maximum=50. A higher score is a better outcome. Age equivalents from 1 month to 70 months can be computed for each subscale separately. | Baseline and 3 months |
| Measure | Description | Time Frame |
|---|---|---|
| Change in VABS: Motor Skills Domain Scores, Pre- and Post-Intervention | Vineland Adaptive Behavior Scales-II (VABS): Motor Skills Domain Scores individual items are scored on a Likert scale from 2=Usually, 1=Sometimes or Partially, 0= Seldom or Never. Motor Skills Domain raw scores range from: Minimum=0 to Maximum=100. A higher score is a better outcome. | Baseline evaluation and at the end of the 3 month study |
| Measure | Description | Time Frame |
|---|---|---|
| Change in PedsQL School Functioning Subscale Score, Pre- and Post-Intervention | Pediatric Quality of Life Inventory (PedsQL version 4). School Functioning subscale. 5-point Likert scale from 0 (Never) to 4 (Almost always); Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. Higher scores indicate better Health Related Quality of Life (QOL). | Baseline evaluation and at the end of the 3 month study |
Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Sakkubai R Naidu, MD | The Kennedy Krieger Institute and Johns Hopkins SOM | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The Johns Hopkins Institute for Clinical and Translational Research | Baltimore | Maryland | 21287 | United States |
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A total of 57 participants were consented. Of these 5 were slow metabolizers who did not meet post consent eligibility criteria.
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| ID | Title | Description |
|---|---|---|
| FG000 | Study Drug-dextromethorphan (DM) | MECP2 mutation positive subjects randomized to receive DM dextromethorphan: The DM group will take 5mg/kg/day orally in 2 divided doses 12 hours apart for the 3 month period of the study. The pharmacists will dispense the DM to the study participants. |
| FG001 | Placebo Group | MECP2 positive subjects randomized to the placebo compound placebo: The placebo will be dispensed to equal the volume of DM of 5mg/kg/day. It is taken orally in 2 divided doses 12 hours apart during the study period of 3 months. The Research pharmacist will dispense the placebo to the participants. |
| Title | Milestones | Reasons Not Completed | ||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Study Drug-dextromethorphan (DM) | MECP2 mutation positive subjects randomized to receive DM dextromethorphan: The DM group will take 5mg/kg/day orally in 2 divided doses 12 hours apart for the 3 month period of the study. The pharmacists will dispense the DM to the study participants. |
| BG001 |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Change in Mullen; Visual Reception Sub-scale Scores, Pre- and Post-Intervention | The Mullen Scales of Early Learning (MULLEN) Visual reception subscale raw scores range from Minimum=0 to Maximum=50. A higher score is a better outcome. Age equivalents from 1 month to 70 months can be computed for each subscale separately. | Mutation positive participants who are fast metabolizers at baseline. 2 were noncompliant and removed from the study drug group. At 3 months 22 were analyzed in the study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Initial evaluation and at the end of the 3 month trial |
|
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Study Drug-dextromethorphan (DM) | MECP2 mutation positive subjects randomized to receive dextromethorphan(DM) at baseline |
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| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Upper Respiratory Infection | Respiratory, thoracic and mediastinal disorders | Systematic Assessment |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. Sakkubai Naidu | Hugo W. Moser Research Institute at Kennedy Krieger , Inc. | 443 923 2778 | naidu@kennedykrieger.org |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Apr 12, 2013 | May 14, 2018 | Prot_SAP_000.pdf |
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| ID | Term |
|---|---|
| D015518 | Rett Syndrome |
| ID | Term |
|---|---|
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
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| ID | Term |
|---|---|
| D003915 | Dextromethorphan |
| ID | Term |
|---|---|
| D009019 | Morphinans |
| D053610 | Opiate Alkaloids |
| D000470 | Alkaloids |
| D006571 | Heterocyclic Compounds |
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|
| placebo | Drug | The placebo will be dispensed to equal the volume of DM of 5mg/kg/day. It is taken orally in 2 divided doses 12 hours apart during the study period of 3 months. The Research pharmacist will dispense the placebo to the participants. |
|
| Change in VABS:Daily Living Skills Domain Scores, Pre- and Post-Intervention | Vineland Adaptive Behavior Scales-II (VABS): Daily Living Skills Domain individual items are scored on a Likert scale from 2=Usually, 1=Sometimes or Partially, 0= Seldom or Never. The Daily Living Skills Domain measures personal behavior as well as domestic and community interaction skills. Daily Living Skills Domain raw scores range from Minimum=0 to Maximum=218. | Baseline and at the end of the 3 month trial |
| Change in VABS: Socialization Domain Scores, Pre- and Post-Intervention | Vineland Adaptive Behavior Scales-II (VABS): Socialization Domain. Critical behaviors are scored on a Likert scale from 2=Usually, 1=Sometimes or Partially, 0= Seldom or Never. Socialization Domain raw scores range from: Minimum=0 to Maximum=152. A higher score is a better outcome. | Baseline and at the end of the 3 month trial |
| Change in VABS:Communication Domain Scores, Pre- and Post-Intervention | Vineland Adaptive Behavior Scales (VABS)-II Communication Domain Scores. The Communication Domain evaluates the receptive, expressive, and written communication skills of the child. Critical behaviors in each Subdomain item are rated as 2=Usually, 1=Sometimes or Partially, 0= Seldom or Never. Communication Domain raw scores range from: Minimum=0 to Maximum=198. A higher score is a better outcome. | Baseline and at the end of the 3 month trial |
| Change in Ghuman-Folstein Screen for Social Interaction (SSI) Score, Pre- and Post-Intervention. | The Ghuman-Folstein Screen for Social Interaction (SSI) assesses the change in behavior and temperament dysregulation as a total score. The score ranges from 0-162, with 0 being most Impaired /has the strongest autism features and 162 having no impairment/no autism features. | Initial evaluation and at the end of the 3 month study. The test lasts 45 minutes |
| Change in Rett Syndrome Behavior Questionnaire Score, Pre- and Post-Intervention | The Rett Syndrome Behavior Questionnaire (RSBQ) total score was assessed. The total score ranges from 0 to 90, with 0 exhibiting no Rett syndrome related symptoms and 90 showing the greatest amount of symptoms (worse outcome). | Initial evaluation and at the end of the 3 month study |
| Change in PedsQL Total Score, Pre- and Post-Intervention | Pediatric Quality of Life Inventory (PedsQL version 4) total score. Each item is rated on a 5-point Likert scale from 0 (Never) to 4 (Almost always). Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. The Total Score is the sum of all the items over the number of items answered on all the Scales. Higher scores indicate better HRQOL. | Baseline evaluation and at the end of the 3 month study |
| Change in PedsQL Social Functioning Subscale Score, Pre- and Post-Intervention | Pediatric Quality of Life Inventory (PedsQL version 4). Social Functioning subscale. 5-point Likert scale from 0 (Never) to 4 (Almost always); Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. Higher scores indicate better Health Related Quality of Life (QOL). | Baseline and at the end of the 3 month trial |
| Change in PedsQL Emotional Functioning Subscale Score, Pre- and Post-Intervention | Pediatric Quality of Life Inventory (PedsQL version 4). Emotional Functioning subscale. 5-point Likert scale from 0 (Never) to 4 (Almost always); Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. Higher scores indicate better Health Related Quality of Life (QOL). | Baseline evaluation and at the end of the 3 month study |
| Change in PedsQL Physical Functioning Subscale Score, Pre- and Post-Intervention | Pediatric Quality of Life Inventory (PedsQL version 4). Physical Functioning subscale. 5-point Likert scale from 0 (Never) to 4 (Almost always); Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. Higher scores indicate better Health Related Quality of Life (QOL). | Initial evaluation and at the end of the 3 month study |
| Change in Seizure Frequency, Pre- and Post-Intervention, 0-4 Year Age Group | Change in Frequency of seizure count baseline to follow-up for children aged 0-4 years | Baseline evaluation and at the end of the 3 month study |
| Change in Seizure Frequency, Pre-and Post-Intervention, 5-10 Year Age Group | Change in Frequency of seizures baseline to follow-up for children aged 5-10 years | Baseline evaluation and at the end of the 3 month study |
| Placebo Group |
MECP2 positive subjects randomized to the placebo compound placebo: The placebo will be dispensed to equal the volume of DM of 5mg/kg/day. It is taken orally in 2 divided doses 12 hours apart during the study period of 3 months. The Research pharmacist will dispense the placebo to the participants. |
| BG002 | Total | Total of all reporting groups |
| Participants |
|
| Age, Continuous | Mean | Standard Deviation | years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Region of Enrollment | Count of Participants | Participants |
|
| OG001 | Placebo Group | MECP2 positive subjects randomized to the placebo at baseline placebo: The placebo will be dispensed to equal the volume of DM of 5mg/kg/day. It is taken orally in 2 divided doses 12 hours apart during the study period of 3 months. The Research pharmacist will dispense the placebo to the participants. |
| OG002 | Study Drug Group at 3 Months | MECP2 mutation positive subjects randomized to DM at 3 months |
| OG003 | Placebo at 3 Months | MECP2 mutation positive subjects randomized to placebo at 3 months |
|
|
|
| Primary | Change in Mullen; Fine Motor Sub-scale Scores, Pre- and Post-Intervention | The Mullen Scales of Early Learning (MULLEN) Fine motor scale raw scores range from Minimum=0 to Maximum=49. A higher score is a better outcome. Age equivalents from 1 month to 70 months can be computed for each subscale separately. | Mutation positive participants who are fast metabolizers at baseline. 2 were noncompliant and removed from the study drug group. At 3 months 22 were analyzed in the study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline and 3 months |
|
|
|
|
| Primary | Change in Mullen; Receptive Language Subscale Scores, Pre- and Post-Intervention | The Mullen Scales of Early Learning (MULLEN) Receptive Language scale raw scores range from Minimum=0 to Maximum=50. A higher score is a better outcome. Age equivalents from 1 month to 70 months can be computed for each subscale separately. | Mutation positive participants who are fast metabolizers at baseline. 2 were noncompliant and removed from the study drug group. At 3 months 22 were analyzed in the study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline and 3 months |
|
|
|
|
| Primary | Change in Mullen, Expressive Language Sub-scale Scores, Pre- and Post-Intervention | The Mullen Scales of Early Learning (MULLEN) Expressive Language scale raw scores range from Minimum=0 to Maximum=50. A higher score is a better outcome. Age equivalents from 1 month to 70 months can be computed for each subscale separately. | Mutation positive participants who are fast metabolizers at baseline. 2 were noncompliant and removed from the study drug group. At 3 months 22 were analyzed in the study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline and 3 months |
|
|
|
|
| Secondary | Change in VABS: Motor Skills Domain Scores, Pre- and Post-Intervention | Vineland Adaptive Behavior Scales-II (VABS): Motor Skills Domain Scores individual items are scored on a Likert scale from 2=Usually, 1=Sometimes or Partially, 0= Seldom or Never. Motor Skills Domain raw scores range from: Minimum=0 to Maximum=100. A higher score is a better outcome. | MECP2 Mutation positive participants who are fast metabolizers were randomized to placebo or DM at baseline. Two participants in the baseline DM group were noncompliant and removed from the study at baseline. At 3 months 22 were analyzed in the DM study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline evaluation and at the end of the 3 month study |
|
|
|
|
| Secondary | Change in VABS:Daily Living Skills Domain Scores, Pre- and Post-Intervention | Vineland Adaptive Behavior Scales-II (VABS): Daily Living Skills Domain individual items are scored on a Likert scale from 2=Usually, 1=Sometimes or Partially, 0= Seldom or Never. The Daily Living Skills Domain measures personal behavior as well as domestic and community interaction skills. Daily Living Skills Domain raw scores range from Minimum=0 to Maximum=218. | 52 MECP2 Mutation positive participants who are fast metabolizers were enrolled in the study. Two participants in the baseline DM group were noncompliant and removed from the study at baseline. At 3 months 22 were analyzed in the DM study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline and at the end of the 3 month trial |
|
|
|
|
| Secondary | Change in VABS: Socialization Domain Scores, Pre- and Post-Intervention | Vineland Adaptive Behavior Scales-II (VABS): Socialization Domain. Critical behaviors are scored on a Likert scale from 2=Usually, 1=Sometimes or Partially, 0= Seldom or Never. Socialization Domain raw scores range from: Minimum=0 to Maximum=152. A higher score is a better outcome. | MECP2 Mutation positive participants who are fast metabolizers were randomized to placebo or DM at baseline. Two participants in the baseline DM group were noncompliant and removed from the study at baseline. At 3 months 22 were analyzed in the DM study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline and at the end of the 3 month trial |
|
|
|
|
| Secondary | Change in VABS:Communication Domain Scores, Pre- and Post-Intervention | Vineland Adaptive Behavior Scales (VABS)-II Communication Domain Scores. The Communication Domain evaluates the receptive, expressive, and written communication skills of the child. Critical behaviors in each Subdomain item are rated as 2=Usually, 1=Sometimes or Partially, 0= Seldom or Never. Communication Domain raw scores range from: Minimum=0 to Maximum=198. A higher score is a better outcome. | 52 MECP2 Mutation positive participants who are fast metabolizers were enrolled at baseline. Two participants in the baseline DM group were noncompliant and removed from the study. At 3 months 22 were analyzed in the DM study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline and at the end of the 3 month trial |
|
|
|
|
| Secondary | Change in Ghuman-Folstein Screen for Social Interaction (SSI) Score, Pre- and Post-Intervention. | The Ghuman-Folstein Screen for Social Interaction (SSI) assesses the change in behavior and temperament dysregulation as a total score. The score ranges from 0-162, with 0 being most Impaired /has the strongest autism features and 162 having no impairment/no autism features. | Posted | Mean | Standard Deviation | units on a scale | Initial evaluation and at the end of the 3 month study. The test lasts 45 minutes |
|
|
|
|
| Secondary | Change in Rett Syndrome Behavior Questionnaire Score, Pre- and Post-Intervention | The Rett Syndrome Behavior Questionnaire (RSBQ) total score was assessed. The total score ranges from 0 to 90, with 0 exhibiting no Rett syndrome related symptoms and 90 showing the greatest amount of symptoms (worse outcome). | Posted | Mean | Standard Deviation | units on a scale | Initial evaluation and at the end of the 3 month study |
|
|
|
|
| Other Pre-specified | Change in PedsQL School Functioning Subscale Score, Pre- and Post-Intervention | Pediatric Quality of Life Inventory (PedsQL version 4). School Functioning subscale. 5-point Likert scale from 0 (Never) to 4 (Almost always); Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. Higher scores indicate better Health Related Quality of Life (QOL). | MECP2 Mutation positive participants who are fast metabolizers were randomized to placebo or DM at baseline. Two participants in the baseline DM group were noncompliant and removed from the study at baseline. At 3 months, 22 were analyzed in the DM study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline evaluation and at the end of the 3 month study |
|
|
|
|
| Other Pre-specified | Change in PedsQL Total Score, Pre- and Post-Intervention | Pediatric Quality of Life Inventory (PedsQL version 4) total score. Each item is rated on a 5-point Likert scale from 0 (Never) to 4 (Almost always). Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. The Total Score is the sum of all the items over the number of items answered on all the Scales. Higher scores indicate better HRQOL. | MECP2 Mutation positive participants who are fast metabolizers were randomized to placebo or DM at baseline. Two participants in the baseline DM group were noncompliant and removed from the study at baseline. At 3 months, 22 were analyzed in the DM study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline evaluation and at the end of the 3 month study |
|
|
|
|
| Other Pre-specified | Change in PedsQL Social Functioning Subscale Score, Pre- and Post-Intervention | Pediatric Quality of Life Inventory (PedsQL version 4). Social Functioning subscale. 5-point Likert scale from 0 (Never) to 4 (Almost always); Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. Higher scores indicate better Health Related Quality of Life (QOL). | MECP2 Mutation positive participants who are fast metabolizers were randomized to placebo or DM at baseline. Two participants in the baseline DM group were noncompliant and removed from the study at baseline. At 3 months, 22 were analyzed in the DM study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline and at the end of the 3 month trial |
|
|
|
|
| Other Pre-specified | Change in PedsQL Emotional Functioning Subscale Score, Pre- and Post-Intervention | Pediatric Quality of Life Inventory (PedsQL version 4). Emotional Functioning subscale. 5-point Likert scale from 0 (Never) to 4 (Almost always); Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. Higher scores indicate better Health Related Quality of Life (QOL). | MECP2 Mutation positive participants who are fast metabolizers were randomized to placebo or DM at baseline. Two participants in the baseline DM group were noncompliant and removed from the study at baseline. At 3 months, 22 were analyzed in the DM study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Baseline evaluation and at the end of the 3 month study |
|
|
|
|
| Other Pre-specified | Change in PedsQL Physical Functioning Subscale Score, Pre- and Post-Intervention | Pediatric Quality of Life Inventory (PedsQL version 4). Physical Functioning subscale. 5-point Likert scale from 0 (Never) to 4 (Almost always); Items are reversed scored and linearly transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, 4=0. Higher scores indicate better Health Related Quality of Life (QOL). | MECP2 Mutation positive participants who are fast metabolizers were randomized to placebo or DM at baseline. Two participants in the baseline DM group were noncompliant and removed from the study at baseline. At 3 months, 22 were analyzed in the DM study drug group and 25 in the placebo group due to incomplete data. | Posted | Mean | Standard Deviation | score on a scale | Initial evaluation and at the end of the 3 month study |
|
|
|
|
| Other Pre-specified | Change in Seizure Frequency, Pre- and Post-Intervention, 0-4 Year Age Group | Change in Frequency of seizure count baseline to follow-up for children aged 0-4 years | Children enrolled at baseline aged 0 to 4 years | Posted | Mean | Standard Deviation | seizure count | Baseline evaluation and at the end of the 3 month study |
|
|
|
|
| Other Pre-specified | Change in Seizure Frequency, Pre-and Post-Intervention, 5-10 Year Age Group | Change in Frequency of seizures baseline to follow-up for children aged 5-10 years | Posted | Mean | Standard Deviation | seizure count | Baseline evaluation and at the end of the 3 month study |
|
|
|
|
| 0 |
| 26 |
| 0 |
| 26 |
| 0 |
| 26 |
| EG001 | Placebo Group | MECP2 positive subjects randomized to the placebo at baseline. | 0 | 26 | 0 | 26 | 0 | 26 |
| EG002 | Study Drug Group at 3 Months | MECP2 mutation positive subjects randomized to DM at 3 months | 0 | 24 | 0 | 24 | 18 | 24 |
| EG003 | Placebo at 3 Months | MECP2 mutation positive subjects randomized to placebo at 3 months | 0 | 26 | 0 | 26 | 22 | 26 |
| seizures | Nervous system disorders | Systematic Assessment |
|
| Increased alkaline phosphatase | Hepatobiliary disorders | Systematic Assessment |
|
| increased platelets | Blood and lymphatic system disorders | Systematic Assessment |
|
Not provided
Not provided
Not provided
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D006572 |
| Heterocyclic Compounds, Bridged-Ring |
| D006576 | Heterocyclic Compounds, 4 or More Rings |
| D000072471 | Heterocyclic Compounds, Fused-Ring |
| D010616 | Phenanthrenes |
| D011084 | Polycyclic Aromatic Hydrocarbons |
| D011083 | Polycyclic Compounds |
| t-test, 2 sided |
| .946 |
df=23 |
| Mean Difference (Net) |
| -.042 |
| Standard Deviation |
| 2.956 |
| 2-Sided |
| 95 |
| -1.290 |
| 1.206 |
| Superiority |
t=-.069; p=0.946 |
| .589 |
| Mean Difference (Net) |
| 0.409 |
| Standard Deviation |
| 3.500 |
| 2-Sided |
| 95 |
| -1.143 |
| 1.961 |
| Superiority |
t=0.548; p=0.589 |
| 0.958 |
| Mean Difference (Net) |
| 0.042 |
| Standard Deviation |
| 3.862 |
| 2-Sided |
| 95 |
| -1.589 |
| 1.672 |
| Superiority |
t=0.053; p=0.958 |
df=24 |
| 0.442 |
| Median Difference (Net) |
| 0.24 |
| Standard Deviation |
| 1.535 |
| 2-Sided |
| 95 |
| -0.394 |
| 0.874 |
| Superiority |
t=0.782; p=0.442 |
df=24 |
| <0.005 |
| Mean Difference (Net) |
| 1.160 |
| Standard Deviation |
| 1.864 |
| 2-Sided |
| 95 |
| 0.391 |
| 1.929 |
| Superiority |
t=3.112; p=0.005 |
df=24
| 0.356 |
| Mean Difference (Net) |
| 0.480 |
| Standard Deviation |
| 2.551 |
| 2-Sided |
| 95 |
| -0.573 |
| 1.533 |
| Superiority |
t=0.941; p=0.356 |
df=24
| 0.826 |
| Mean Difference (Net) |
| 0.120 |
| Standard Deviation |
| 2.698 |
| 2-Sided |
| 95 |
| -0.993 |
| 1.233 |
| Superiority |
t=0.222; p=0.826 |
df=11 |
| 0.358 |
| Mean Difference (Net) |
| 4.9917 |
| Standard Deviation |
| 18.0163 |
| 2-Sided |
| 95 |
| -6.4553 |
| 16.4387 |
t=0.960; p=0.358 |
| Superiority |
df=13 |
| 0.432 |
| Mean Difference (Net) |
| 2.42857 |
| Standard Deviation |
| 11.21479 |
| 2-Sided |
| 95 |
| -4.04665 |
| 8.90380 |
t=0.810; p=0.432 |
| Superiority |
df=13 |
| 0.073 |
| Mean Difference (Net) |
| 7.500 |
| Standard Deviation |
| 14.378 |
| 2-Sided |
| 95 |
| -0.802 |
| 15.802 |
| Superiority |
t=1.952; p=0.073 |
df=13 |
| 0.874 |
| Mean Difference (Net) |
| 0.7143 |
| Standard Deviation |
| 16.5084 |
| 2-Sided |
| 95 |
| -8.8174 |
| 10.2460 |
t=0.162; p=0.874 |
| Superiority |
df=14 |
| 0.909 |
| Mean Difference (Net) |
| 0.8400 |
| Standard Deviation |
| 27.8994 |
| 2-Sided |
| 95 |
| -14.6102 |
| 16.2902 |
t=0.117; p=0.909 |
| Superiority |