4006-776-356 出国就医服务电话

免费获得国外相关药品,最快 1 个工作日回馈药物信息

出境医 / 临床实验 / Observe Alternating Hemiplegia of Childhood (OBSERV-AHC) Study (OBSERV-AHC)

Observe Alternating Hemiplegia of Childhood (OBSERV-AHC) Study (OBSERV-AHC)

Study Description
Brief Summary:

Alternating Hemiplegia of Childhood (AHC) is a rare and serious disease that is in need of effective, and hopefully even curative, therapies. Afflicted patients suffer from severe paralyzing crises, often excruciatingly painful muscle spasms, severe often life threatening epileptic seizures, and frequently severe developmental and psychiatric/psychological disabilities. Based on the repeated input from family organizations and from professionals, as expressed at the London 2016 ATP1A3 in Disease meeting, there are urgent clinical research needs for AHC that are essential to better understand the disease, evaluate its treatment options and plan for future controlled clinical trials.

The goal of the study is to evaluate different parameters involved in the evolution of the AHC. The investigating team's hypothesis is that the evolution is variable so it aims to evaluate the factors which could contribute to the progression of the disease.


Condition or disease Intervention/treatment
Alternating Hemiplegia Other: Review of past medical history, clinical exam, and electroencephalogram, polysomnography and urine samples of melatonin and pupillometry. Other: The patients' parents have to complete the VINELAND II adaptive behavior scales scoring, The Sleep Disturbance Scale for Children (SDSC) and Horne & Ostberg Circadian Typology Questionnaire

Study Design
Layout table for study information
Study Type : Observational
Estimated Enrollment : 40 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Observe Alternating Hemiplegia of Childhood (OBSERV-AHC) Prospective Observational Natural History and Therapy Study
Actual Study Start Date : October 28, 2019
Estimated Primary Completion Date : December 28, 2022
Estimated Study Completion Date : December 28, 2022
Arms and Interventions
Group/Cohort Intervention/treatment
Patients with Alternating Hemiplegia of Childhood (AHC)

Patients who fit the Aicardi Alternating Hemiplegia of Childhood clinical criteria of any age. The Aicardi Criteria are six (Heinzen et al 2015). (1) Paroxysmal hemiplegia episodes. (2) Bilateral hemiplegia or quadriplegia episodes. (3) Other paroxysmal manifestations, such as abnormal eye movements, nystagmus, strabismus, ataxia, dystonia, choreoathetosis, tonic spells, or autonomic disturbances. (4) Evidence of permanent neurological dysfunction, which can manifest as cognitive impairment, developmental delay, and/or persistent motor deficits such as spastic diplegia/quadriplegia, hypotonia, ataxia, choreoathetosis, or dystonia. (5) Sleep relieves symptoms, although attacks may resume soon after awakening. (6) First signs of dysfunction occur prior to the age of 18 months.

Patients having some but not all the above criteria and have the mutation in ATP1A3 gene can be included.

Other: Review of past medical history, clinical exam, and electroencephalogram, polysomnography and urine samples of melatonin and pupillometry.
Review of past medical history; review of paroxysmal events; identification of presence of seizures & epilepsy & epilepsy classification; characterization of the non-paroxysmal features; degree of paroxysmal, non-paroxysmal disability indices; Vineland II adaptive behavior scales scoring; behavioral evaluation; presence of a genetic mutation; pharmacological treatments already used; AHC paroxysmal events assessement during the time of study; patient calendar for the follow up of events, for the follow up of epileptic seizures; whether, or not, there was occurrence of a serious or potentially life-threatening event (status epilepticus, apnea requiring intervention, or death) during time of study; growth and somatic complaints; further information concerning family history & comorbidities; past instrumental & biochemical investigations (ECG, cardiac ultrasound results if done as part of patient's follow-up); electroencephalogram; polysomnography; urine samples of melatonin ; pupillometry

Other: The patients' parents have to complete the VINELAND II adaptive behavior scales scoring, The Sleep Disturbance Scale for Children (SDSC) and Horne & Ostberg Circadian Typology Questionnaire
Sleep Disturbance Scale for Children ; Horne & Ostberg Circadian Typology Questionnaire

Outcome Measures
Primary Outcome Measures :
  1. final index compared to the initial index of non-paroxysmal disability [ Time Frame: 1 year: Inclusion Visit up to 1 year visit ]

    The aim is to study the modification of the final index compared to the initial index of non-paroxysmal disability in order to evaluate the parameters that influence its evolution.

    The non-paroxysmal disability index is calculated from different variables : ability to walk independently, presence of a behavioral disorder, presence and degree of communication disorders, abnormality of global motor skills, abnormality of fine motor skills, movements disorders, intellectual deficiency. The study also aims to evaluate the sleep architecture in AHC



Eligibility Criteria
Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Alternating Hemiplegia of Childhood (AHC)
Criteria

Inclusion Criteria:

- Patients who fit the Aicardi Alternating Hemiplegia of Childhood clinical criteria of any age. The Aicardi Criteria are six :

  • Paroxysmal hemiplegia episodes.
  • Bilateral hemiplegia or quadriplegia episodes.
  • Other paroxysmal manifestations, such as abnormal eye movements, nystagmus, strabismus, ataxia, dystonia, choreoathetosis, tonic spells, or autonomic disturbances.
  • Evidence of permanent neurological dysfunction, which can manifest as cognitive impairment, developmental delay, and/or persistent motor deficits such as spastic diplegia/quadriplegia, hypotonia, ataxia, choreoathetosis, or dystonia.
  • Sleep relieves symptoms, although attacks may resume soon after awakening.
  • First signs of dysfunction occur prior to the age of 18 months.

Exclusion Criteria:

  • Patients who do not have a mutation of the ATP1A3 gene and having only some of the above criteria
  • Patients and / or their parents / legal guardian having provided their opposition to the study.
  • Incapacity of patient / parent or other referent adult to participate in the prospective phase of observation of different paroxysmal events of the disease and in the scoring of the Vineland II adaptive behavior scales.
  • Diagnosis of another disease, which could explain the presence of symptoms mentioned in the criteria of Aicardi.
Contacts and Locations

Contacts
Layout table for location contacts
Contact: Eleni PANAGIOTAKAKI, Dr 4 27 85 60 60 ext 33 eleni.panagiotakaki@chu-lyon.fr

Locations
Layout table for location information
France
Hospices Civils de Lyon Department of Clinical Epileptology, Sleep Disorders and Functional Neurology in Children Recruiting
Bron, France, 69500
Contact: Eleni PANAGIOTAKAKI, MD    4 27 85 60 60    eleni.panagiotakaki@chu-lyon.fr   
Principal Investigator: Eleni PANAGIOTAKAKI, MD         
Sponsors and Collaborators
Hospices Civils de Lyon
Investigators
Layout table for investigator information
Principal Investigator: Eleni PANAGIOTAKAKI, Dr Hospices Civils de Lyon
Tracking Information
First Submitted Date July 12, 2019
First Posted Date July 16, 2019
Last Update Posted Date April 29, 2021
Actual Study Start Date October 28, 2019
Estimated Primary Completion Date December 28, 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: December 9, 2020)
final index compared to the initial index of non-paroxysmal disability [ Time Frame: 1 year: Inclusion Visit up to 1 year visit ]
The aim is to study the modification of the final index compared to the initial index of non-paroxysmal disability in order to evaluate the parameters that influence its evolution. The non-paroxysmal disability index is calculated from different variables : ability to walk independently, presence of a behavioral disorder, presence and degree of communication disorders, abnormality of global motor skills, abnormality of fine motor skills, movements disorders, intellectual deficiency. The study also aims to evaluate the sleep architecture in AHC
Original Primary Outcome Measures
 (submitted: July 12, 2019)
Modification of the final non-paroxysmal disability compared to the initial non-paroxysmal disability index during the study [ Time Frame: 1 year: Inclusion Visit up to 1 year visit ]
The aim is to study the modification of the final index compared to the initial index of non-paroxysmal disability in order to evaluate the parameters that influence its evolution. The non-paroxysmal disability index is calculated from different variables : ability to walk independently, presence of a behavioral disorder, presence and degree of communication disorders, abnormality of global motor skills, abnormality of fine motor skills, movements disorders, intellectual deficiency.
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Observe Alternating Hemiplegia of Childhood (OBSERV-AHC) Study
Official Title Observe Alternating Hemiplegia of Childhood (OBSERV-AHC) Prospective Observational Natural History and Therapy Study
Brief Summary

Alternating Hemiplegia of Childhood (AHC) is a rare and serious disease that is in need of effective, and hopefully even curative, therapies. Afflicted patients suffer from severe paralyzing crises, often excruciatingly painful muscle spasms, severe often life threatening epileptic seizures, and frequently severe developmental and psychiatric/psychological disabilities. Based on the repeated input from family organizations and from professionals, as expressed at the London 2016 ATP1A3 in Disease meeting, there are urgent clinical research needs for AHC that are essential to better understand the disease, evaluate its treatment options and plan for future controlled clinical trials.

The goal of the study is to evaluate different parameters involved in the evolution of the AHC. The investigating team's hypothesis is that the evolution is variable so it aims to evaluate the factors which could contribute to the progression of the disease.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients with Alternating Hemiplegia of Childhood (AHC)
Condition Alternating Hemiplegia
Intervention
  • Other: Review of past medical history, clinical exam, and electroencephalogram, polysomnography and urine samples of melatonin and pupillometry.
    Review of past medical history; review of paroxysmal events; identification of presence of seizures & epilepsy & epilepsy classification; characterization of the non-paroxysmal features; degree of paroxysmal, non-paroxysmal disability indices; Vineland II adaptive behavior scales scoring; behavioral evaluation; presence of a genetic mutation; pharmacological treatments already used; AHC paroxysmal events assessement during the time of study; patient calendar for the follow up of events, for the follow up of epileptic seizures; whether, or not, there was occurrence of a serious or potentially life-threatening event (status epilepticus, apnea requiring intervention, or death) during time of study; growth and somatic complaints; further information concerning family history & comorbidities; past instrumental & biochemical investigations (ECG, cardiac ultrasound results if done as part of patient's follow-up); electroencephalogram; polysomnography; urine samples of melatonin ; pupillometry
  • Other: The patients' parents have to complete the VINELAND II adaptive behavior scales scoring, The Sleep Disturbance Scale for Children (SDSC) and Horne & Ostberg Circadian Typology Questionnaire
    Sleep Disturbance Scale for Children ; Horne & Ostberg Circadian Typology Questionnaire
Study Groups/Cohorts Patients with Alternating Hemiplegia of Childhood (AHC)

Patients who fit the Aicardi Alternating Hemiplegia of Childhood clinical criteria of any age. The Aicardi Criteria are six (Heinzen et al 2015). (1) Paroxysmal hemiplegia episodes. (2) Bilateral hemiplegia or quadriplegia episodes. (3) Other paroxysmal manifestations, such as abnormal eye movements, nystagmus, strabismus, ataxia, dystonia, choreoathetosis, tonic spells, or autonomic disturbances. (4) Evidence of permanent neurological dysfunction, which can manifest as cognitive impairment, developmental delay, and/or persistent motor deficits such as spastic diplegia/quadriplegia, hypotonia, ataxia, choreoathetosis, or dystonia. (5) Sleep relieves symptoms, although attacks may resume soon after awakening. (6) First signs of dysfunction occur prior to the age of 18 months.

Patients having some but not all the above criteria and have the mutation in ATP1A3 gene can be included.

Interventions:
  • Other: Review of past medical history, clinical exam, and electroencephalogram, polysomnography and urine samples of melatonin and pupillometry.
  • Other: The patients' parents have to complete the VINELAND II adaptive behavior scales scoring, The Sleep Disturbance Scale for Children (SDSC) and Horne & Ostberg Circadian Typology Questionnaire
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: April 28, 2021)
40
Original Estimated Enrollment
 (submitted: July 12, 2019)
20
Estimated Study Completion Date December 28, 2022
Estimated Primary Completion Date December 28, 2022   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

- Patients who fit the Aicardi Alternating Hemiplegia of Childhood clinical criteria of any age. The Aicardi Criteria are six :

  • Paroxysmal hemiplegia episodes.
  • Bilateral hemiplegia or quadriplegia episodes.
  • Other paroxysmal manifestations, such as abnormal eye movements, nystagmus, strabismus, ataxia, dystonia, choreoathetosis, tonic spells, or autonomic disturbances.
  • Evidence of permanent neurological dysfunction, which can manifest as cognitive impairment, developmental delay, and/or persistent motor deficits such as spastic diplegia/quadriplegia, hypotonia, ataxia, choreoathetosis, or dystonia.
  • Sleep relieves symptoms, although attacks may resume soon after awakening.
  • First signs of dysfunction occur prior to the age of 18 months.

Exclusion Criteria:

  • Patients who do not have a mutation of the ATP1A3 gene and having only some of the above criteria
  • Patients and / or their parents / legal guardian having provided their opposition to the study.
  • Incapacity of patient / parent or other referent adult to participate in the prospective phase of observation of different paroxysmal events of the disease and in the scoring of the Vineland II adaptive behavior scales.
  • Diagnosis of another disease, which could explain the presence of symptoms mentioned in the criteria of Aicardi.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Eleni PANAGIOTAKAKI, Dr 4 27 85 60 60 ext 33 eleni.panagiotakaki@chu-lyon.fr
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT04020848
Other Study ID Numbers 69HCL19_0199
2019-A00860-57 ( Other Identifier: ID-RCB )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party Hospices Civils de Lyon
Study Sponsor Hospices Civils de Lyon
Collaborators Not Provided
Investigators
Principal Investigator: Eleni PANAGIOTAKAKI, Dr Hospices Civils de Lyon
PRS Account Hospices Civils de Lyon
Verification Date April 2021