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Circadian Rhythm Deregulation in Patients With CAPS

RecruitingNAAges 6 Years - anyAllHospices Civils de Lyon
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In plain words

What the trial is, and whether it could suit you

Circadian rhythms are characterized by the physiology's adaptation to the alternation of day and night, enabling to adapt to the environment. These rhythms are generated by a molecular clock within each cell. At the molecular level, the circadian clock is based on a complex system of cell-autonomous transcription loops. These exert positive and negative feedback on themselves, generating cyclic transcriptional activity. * In the main loop, the BMAL1 transcription factor links with CLOCK or NPAS2 ( (Neuronal PAS Domain Protein 2) to activate transcription of per1,2 and 3 and cryptochrome (cry1 and cry2), which in turn repress BMAL1/CLOCK1 transcriptional activity.. The BMAL1/CLOCK complex also activates transcription of numerous target genes (per and cry, Rev-erb, etc.).. * other secondary loops refine the function of the first. Recent studies suggest that many aspects of innate immunit

Sign in to get the eligibility rules as simple questions to take to your doctor.

📋 Eligibility rules (as published)
---Inclusion Criteria: Patient with CAPS group : * Patients aged 6 and over * Participant with CAPS confirmed by NLRP3 genetic analysis * Weight greater than or equal to 25 Kg * Parents/guardians who have been informed of the study and have signed a consent form. * Patient affiliated to a social security scheme Control group (healthy participant): * Participant aged 6 and over * Weight greater than or equal to 25 Kg * Participant living in the same household as a subject with CAPS genetically confirmed by NLRP3 analysis and included in the protocol * Participant with no CAPS (a priori) who consents to NLRP3 genetic analysis * Parents/guardians who have been informed of the study and have signed a consent form. * Participant who has been informed of the study and has agreed to take part * Participant affiliated to a social security scheme * Exclusion Criteria : Patient with CAPS group : * Patients with chronic sleep disorders (narcolepsy, hypersomnia) requiring medication (sleeping pills, melatonin). * Patients with sleep apnea syndrome * Patients working regular night shifts or alternating day and night shifts * Pregnant or breast-feeding women * Parents with an infant under 6 months of age * Patient participating in another interventional drug study * Deprivation of civil rights (curators, guardianship, safeguard of justice) Control group (healthy participant): * Participants with a chronic illness (ALD beneficiaries) * Participants with chronic sleep disorders (narcolepsy, hypersomnia) requiring medication (sleeping pills, melatonin) * Participants working regular night shifts or alternating day and night shifts * Pregnant or breast-feeding women * Parents with an infant under 6 months of age * Participant participating in another interventional drug study * Deprivation of civil rights (curators, guardianship, safeguard of justice)
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What it tests

  • Genetic analysis of NLRP3
  • Circadian rhythm measurement
  • Saliva sampling
  • Questionnaire
  • AIDAI score
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Where

6 sites
Hôpital Femme-Mère-Enfant (HCL)
Bron, France
Hôpital Claude Huriez (CHU de Lille)
Lille, France
Hôpital de la Croix-Rousse (HCL)
Lyon, France
Hôpital Edouard Herriot (HCL)
Lyon, France
Hôpital Tenon (AP-HP)
Paris, France
Hôpital Kremlin-Bicêtre (AP-HP)
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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