Genetic and Clinical Characterization of Type 1 and 2 Narcolepsy in Adult and Pediatric Black and North African Populations

NCT06786377 | Not Yet Recruiting

• 2 other identifiers: APHP240964IDRCB: 2024-A02078-39
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Narcolepsy

Outcome Measures

Primary Outcomes (1)

• 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

  12 months

Study Arms (2)

narcolepsy patients

50 narcolepsy patients will be included in the study at Robert Debré Hospital

Genetic: saliva sampling

control patients

150 control patients will be included in the study at Robert Debré Hospital

Genetic: saliva sampling

Interventions

saliva sampling GENETIC

saliva sampling

control patients; narcolepsy patients

Eligibility Criteria

• Age: 6 Years - 21 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Narcolepsy patients with NT1 or NT2.

You may qualify if:

• 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:
• 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.

You may not qualify if:

• Individuals unable to understand the protocol or unwilling to participate.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Robert Debré Hospital

Paris, 75019, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

saliva sampling

MeSH Terms

Conditions

Narcolepsy

Condition Hierarchy (Ancestors)

Disorders of Excessive Somnolence; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Nervous System Diseases; Mental Disorders

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 15, 2025
• First Posted: January 22, 2025
• Study Start: January 30, 2025
• Primary Completion: January 30, 2026
• Study Completion: January 30, 2026
• Last Updated: January 22, 2025

Record last verified: 2025-01

Locations

FR (1)