Observe Alternating Hemiplegia of Childhood (OBSERV-AHC) Study (OBSERV-AHC)
![]() |
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT04020848 |
Recruitment Status :
Completed
First Posted : July 16, 2019
Last Update Posted : January 12, 2023
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
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 Type : | Observational |
Actual Enrollment : | 34 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 |
Actual Primary Completion Date : | November 17, 2022 |
Actual Study Completion Date : | November 17, 2022 |

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 |
- 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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
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 :
- 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.

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): NCT04020848
France | |
Hospices Civils de Lyon Department of Clinical Epileptology, Sleep Disorders and Functional Neurology in Children | |
Bron, France, 69500 |
Principal Investigator: | Eleni PANAGIOTAKAKI, Dr | Hospices Civils de Lyon |
Responsible Party: | Hospices Civils de Lyon |
ClinicalTrials.gov Identifier: | NCT04020848 |
Other Study ID Numbers: |
69HCL19_0199 2019-A00860-57 ( Other Identifier: ID-RCB ) |
First Posted: | July 16, 2019 Key Record Dates |
Last Update Posted: | January 12, 2023 |
Last Verified: | January 2023 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Hemiplegia Paralysis Neurologic Manifestations Nervous System Diseases Melatonin |
Antioxidants Molecular Mechanisms of Pharmacological Action Protective Agents Physiological Effects of Drugs Central Nervous System Depressants |