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 |
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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 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 |
Group/Cohort | Intervention/treatment |
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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
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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
Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Patients who fit the Aicardi Alternating Hemiplegia of Childhood clinical criteria of any age. The Aicardi Criteria are six :
Exclusion Criteria:
Contact: Eleni PANAGIOTAKAKI, Dr | 4 27 85 60 60 ext 33 | eleni.panagiotakaki@chu-lyon.fr |
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 |
Principal Investigator: | Eleni PANAGIOTAKAKI, Dr | Hospices Civils de Lyon |
Tracking Information | |||||
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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 |
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
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Original Primary Outcome Measures |
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.
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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. |
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Detailed Description | Not Provided | ||||
Study Type | Observational | ||||
Study Design | Observational Model: Cohort Time Perspective: Prospective |
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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 |
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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:
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Publications * | Not Provided | ||||
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||
Recruitment Status | Recruiting | ||||
Estimated Enrollment |
40 | ||||
Original Estimated Enrollment |
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 :
Exclusion Criteria:
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Sex/Gender |
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Ages | Child, Adult, Older Adult | ||||
Accepts Healthy Volunteers | No | ||||
Contacts |
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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 ) |
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Has Data Monitoring Committee | No | ||||
U.S. FDA-regulated Product |
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IPD Sharing Statement | Not Provided | ||||
Responsible Party | Hospices Civils de Lyon | ||||
Study Sponsor | Hospices Civils de Lyon | ||||
Collaborators | Not Provided | ||||
Investigators |
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PRS Account | Hospices Civils de Lyon | ||||
Verification Date | April 2021 |