Genetic Investigations in Children With Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam
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ClinicalTrials.gov Identifier: NCT05722990 |
Recruitment Status :
Recruiting
First Posted : February 10, 2023
Last Update Posted : February 21, 2024
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Early childhood is one of the periods of life in which the risk to develop epilepsy is highest. Besides, genetic causes are much more common in the young. Recently, an ever-increasing amount of genes has been found to be involved in numerous early-onset epilepsies. Thanks to next-generation sequencing (NGS), a diagnosis can now be reached in close to 50% of children with epilepsy and developmental delay. This, in turn, has led to the successful application of the concept of individualized treatment in a growing number of children with epilepsy. Genetic investigations have thus been progressively included in the routine work-up of children with early-onset epilepsies throughout the world, mostly in high-income countries up to now. As a result of a scientific collaboration between pediatric neurology divisions at University Hospitals Geneva (HUG), Switzerland, and Children's Hospital 2 in Ho Chi Minh City (HCMC), Viet Nam, genetic testing of children with early-onset epilepsies followed at the pediatric neurology division, Children's Hospital 2 started at the genetics laboratory of the Vietnam National University in 2017.
Aims: Our project aims at establishing the proportion of patients in whom a causal genetic finding can be identified, in a prospective cohort of children with Developmental and Epileptic Encephalopathies (DEE) followed at Children's Hospital 2 (ND2). The investigators also aim at identifying the percentage of these children in whom this approach would change current management.
Methods: A series of children diagnosed with DEE and followed at ND2 Hospital, enrolled consecutively. Exome sequencing was applied to all, with biostatistical analyses of a panel of 671 genes involved in epilepsies and developmental disorders performed in parallel at Ho Chi Minh City Vietnam National University and Geneva Genetic Medicine Division. Sanger sequencing confirmation of potentially causal variants in patients, and in parents for familial segregation. Comparison of Vietnamese and Swiss genetic findings, and multidisciplinary discussions in formal Genome Boards. Additional genetic investigations, if deemed necessary in Genome Board sessions. Clinical management adapted to genetic findings wherever applicable, and follow-up according to standard practice. One-hundred-and-fifty patients are expected to participate during the 3-year study period.
Condition or disease |
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Whole Exome Sequencing Epileptic Encephalopathy |
Study Type : | Observational [Patient Registry] |
Estimated Enrollment : | 150 participants |
Observational Model: | Case-Only |
Time Perspective: | Prospective |
Target Follow-Up Duration: | 36 Months |
Official Title: | Genetic Investigations in Children With Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam: A Collaborative, Prospective, Tertiary Care Center Study |
Actual Study Start Date : | March 16, 2022 |
Estimated Primary Completion Date : | March 16, 2025 |
Estimated Study Completion Date : | December 31, 2025 |
- The proportion of children with developmental and epileptic encephalopathies for whom advanced genetic investigations allow the identification of pathogenic gene variants [ Time Frame: 36 months ]the proportion of children with developmental and epileptic encephalopathies followed at the largest paediatric neurology facility in South Vietnam and enrolled consecutively for whom advanced genetic investigations allow the identification of pathogenic gene variants.
- The proportion of children in whom the genetic results will allow individualized treatment adaptations [ Time Frame: 36 months ]proportion of children in whom the genetic results will allow individualized treatment adaptations
Biospecimen Retention: Samples With DNA
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Ages Eligible for Study: | 1 Day to 3 Years (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
Inclusion Criteria:
- Drug-resistant epilepsy, either from onset, or at follow-up, according to ILAE 2010 criteria
- Severe developmental delay or regression, according to paediatric neurologist evaluation (or developmental quotient <50, if formally assessed)
- Age of onset of principal symptoms (Seizures, Developmental delay): 0-36 months
- Agreement to take part in the study and signed consent form
Exclusion Criteria:
- Patients with identified structural, infectious or inflammatory causes (such as perinatal hypoxic-ischemic encephalopathy, Cerebrovascular disorders, Sequelae of trauma or encephalitis, neurocutaneous disorders, etc…) will not be asked to take part to the study.
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): NCT05722990
Contact: Thuy-Minh-Thu NGUYEN, MD | +84983966371 | thunguyen@ump.edu.vn | |
Contact: Hoang-Bao-Trang PHAM, MD | +8490903618 | trangbaopham.pnt@gmail.com |
Vietnam | |
N02 Children's Hospital | Recruiting |
Ho Chi Minh city, Ho Chi Minh, Vietnam, 848 | |
Contact: Thuy-Minh-Thu NGUYEN, MD +84983966371 thunguyen@ump.edu.vn |
Principal Investigator: | Thuy-Minh-Thu NGUYEN, MD | http://www.benhviennhi.org.vn/ |
Responsible Party: | Thuy-Minh-Thu NGUYEN, Principal Investigator, Number 2 Children's Hospital, Ho Chi Minh City |
ClinicalTrials.gov Identifier: | NCT05722990 |
Other Study ID Numbers: |
DEE |
First Posted: | February 10, 2023 Key Record Dates |
Last Update Posted: | February 21, 2024 |
Last Verified: | February 2024 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Undecided |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Brain Diseases Epilepsy Central Nervous System Diseases Nervous System Diseases |