An observational study in Narcolepsy, sponsored by Assistance Publique - Hôpitaux de Paris. Not yet recruiting at 1 site in France. Open to participants aged 6 Years to 21 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-01-22.
Sponsored by Assistance Publique - Hôpitaux de Paris · Observational
Narcolepsy type 1 (NT1) is a neurological disorder characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, and hallucinations while awake. It results from the loss of orexin-producing neurons in the hypothalamus, leading to a deficiency of the neuropeptide orexin/hypocretin. Studies show differences in the clinical presentation of NT1 between Caucasian and African American populations, highlighting the importance of research into genetic and clinical characteristics specific to Black and North African populations.
A genetic study in these populations could identify novel genes associated with NT1 and NT2, providing crucial information for personalized diagnosis and treatment. This would fill a knowledge gap and promote more effective interventions for individuals of African descent, contributing to a better understanding of narcolepsy globally.
Narcolepsy type 1 (NT1) is a neurological disease characterized by excessive daytime sleepiness (EDS), cataplexy, sleep paralysis and hypnagogic hallucinations. It is caused by the loss of neurons located in the lateral hypothalamus leading to a sudden deficiency of a neuropeptide hypocretin/orexin involved in the functions of sleep and wakefulness but also food intake and metabolism. NT1 is diagnosed by the presence of EDS and cataplexies or in the absence of cataplexies but with documented hypocretin/orexin deficiency measured in the cerebrospinal fluid (CSF). Other cases without cataplexy (and without orexin deficiency) are classified as narcolepsy type 2 (NT2).
Although narcolepsy has been widely studied in different populations, there is a lack of knowledge about the genetic and clinical characteristics of people of Black and North African descent.
In Caucasian populations, NT1 is associated with specific major histocompatibility complex (MHC) alleles, particularly HLA-DQB1*06:029. However, recent observations in African American populations have indicated a different clinical presentation. Notably, earlier onset, increased prevalence of atypical symptoms, greater prevalence of narcolepsy without cataplexy, and low cerebrospinal fluid orexin levels have been reported. Specifically, the DQB103:01 allele has been associated with NT1 in African Americans. Additionally, in African populations, a specific mutation called DQB103:19 has been identified within the DQB103:0112 allele.
Genome-wide association studies (GWAS) have proven to be of major interest in identifying genetic variations associated with complex disorders. However, the majority of GWAS on narcolepsy have focused on non-African populations. Carrying out a GWAS in black and North African populations is able to provide new information on the genetic architecture of NT1 and NT2 and highlight specific risk factors in this particularly exposed population.
In conclusion, better understanding the genetic and clinical heterogeneity of NT1 and NT2 in black and North African populations is crucial to advance our knowledge of this disease and adapt targeted diagnostic and therapeutic approaches to specific populations. The present study aims to contribute significantly to the understanding of pediatric and adult narcolepsy and to facilitate more personalized and effective interventions for individuals of African descent.
Although narcolepsy has been widely studied in different populations, there is a lack of knowledge about the genetic and clinical characteristics of people of Black and North African descent.
157 studies on the registry are indexed under Narcolepsy; 37 are open to participants now.
This study's planned enrollment of 200 is above the median of 135 across 38 observational studies indexed under Narcolepsy.
Browse Narcolepsy studies →Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,592 studies on the registry; 1,033 are open to participants now.
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Narcolepsy patients with NT1 or NT2.
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Narcolepsy patients:
Control subjects:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
50 narcolepsy patients will be included in the study at Robert Debré Hospital
Genetic: saliva sampling
150 control patients will be included in the study at Robert Debré Hospital
Genetic: saliva sampling
saliva sampling
Describe the genetic and clinical features of type 1 and 2 narcolepsy in Black and North African populations
Presence of genetic specificity in the populations studied
Time frame: 12 months
Plan to share: Undecided
No publications or documents are linked to this record.
Start is estimated for Jan 2025; primary completion for Jan 2026, 12 months later.
Of 19 observational studies under Narcolepsy, half reached primary completion within 61 months of starting (the median), counting those still running; a quarter within 14 and three quarters within 73. This study's planned 12 months is below that.
How these figures are worked out, and which studies are left out of them.
This study is not yet recruiting, as verified in Jan 2025. You cannot join it, but the record below documents what was studied.
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