NarcolepsyNarcoGenNCT06786377
Genetic and Clinical Characterization of Type 1 and 2 Narcolepsy in Adult and Pediatric Black and North African Populations
An observational study of Narcolepsy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 6 to 21 yearsHealthy volunteers can take part
- Conditions the study is for
- Narcolepsy
- What is being tested?
- saliva sampling
- How many people
- 200 participants
- Where
- 1 siteFrance
- Study dates
- 30 Jan 2025to 30 Jan 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 21 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: Narcolepsy patients with NT1 or NT2.
Who may be able to join
- Narcolepsy patients:
- Individuals of black and North African origin diagnosed with NT1 or NT2.
- Age ≥ 6 years
- Clinical confirmation of narcolepsy according to the criteria of the International Classification of Sleep Disorders (ICSD-3).
- Signature of informed consent by the adult patient or both holders of parental authority for minor patients.
- Control subjects:
Show all 9Show fewer
- Volunteers without pathology related to the study from the same ethnic or related groups with the aim of reaching two matched control subjects for each case.
- Age ≥ 6 years
- Signature of informed consent by the adult subject or both holders of parental authority for minor subjects.
Who cannot join
- Individuals unable to understand the protocol or unwilling to participate.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
Robert Debré Hospital
Paris, 75019
Michel LECENDREUX, MD, +331.40.03.20.00, michel.lecendreux@aphp.fr
Emmanuel MIGNOT, MD, PhD, (650) 725-6517, mignot@stanford.edu
About this study
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.
Read the detailed description
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.
- Conditions
- Narcolepsy
- Being tested
- saliva sampling
- Medical subject headings
- Narcolepsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
saliva samplingGenetic
saliva sampling
| Study group | Role | What they receive |
|---|---|---|
| narcolepsy patients | 50 narcolepsy patients will be included in the study at Robert Debré Hospital Receives: Genetic: saliva sampling | |
| control patients | 150 control patients will be included in the study at Robert Debré Hospital Receives: Genetic: saliva sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jan 2025
- Study start30 Jan 2025 (estimated)
- Primary completion30 Jan 2026 (estimated)
- Study completion30 Jan 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for NarcolepsyStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06786377
- Sponsor's protocol ID
- APHP240964
- Other IDs
- IDRCB: 2024-A02078-39
- Acronym
- NarcoGen
- Status last verified
- Jan 2025
- First submitted
- 15 Jan 2025
- Last updated
- 22 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 22 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic and Clinical Characterization of Type 1 and 2 Narcolepsy in Adult and Pediatric Black and North African Populations
- ClinicalTrials.gov ID
- NCT06786377
- Acronym / sponsor ID
- NarcoGen / APHP240964
- Conditions
- Narcolepsy
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 30 Jan 2025 (estimated)
- Primary completion
- 30 Jan 2026 (estimated)
- Study completion
- 30 Jan 2026 (estimated)
- First posted
- 22 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| narcolepsy patients | – | Genetic: saliva sampling50 narcolepsy patients will be included in the study at Robert Debré Hospital |
| control patients | – | Genetic: saliva sampling150 control patients will be included in the study at Robert Debré Hospital |
Who may qualify
- Ages
- 6 to 21 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- Narcolepsy patients with NT1 or NT2.
Key inclusion criteria (9 listed)
- Individuals of black and North African origin diagnosed with NT1 or NT2.
- Age ≥ 6 years
- Clinical confirmation of narcolepsy according to the criteria of the International Classification of Sleep Disorders (ICSD-3).
- Signature of informed consent by the adult patient or both holders of parental authority for minor patients.
- Volunteers without pathology related to the study from the same ethnic or related groups with the aim of reaching two matched control subjects for each case.
Key exclusion criteria (1 listed)
- Individuals unable to understand the protocol or unwilling to participate.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| saliva samplingsaliva sampling | Genetic | control patients, narcolepsy patients |
Primary outcome
Describe the genetic and clinical features of type 1 and 2 narcolepsy in Black and North African populations
Time frame: 12 months
Presence of genetic specificity in the populations studied
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jan 2025.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Narcolepsy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 22 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Describe the genetic and clinical features of type 1 and 2 narcolepsy in Black and North African populations (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jan 2025.