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Last update 08 May 2025

Advanced Sleep-Phase Syndrome, Familial

Last update 08 May 2025

Basic Info

Synonyms

Advanced Sleep-Phase Syndrome, Familial, FASPS, Familial advanced sleep phase syndrome

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Introduction

A very rare circadian rhythm sleep disorder with main features of very early sleep onset and offset possibly resulting in emotional and physical disruptions.

Clinical Trials associated with Advanced Sleep-Phase Syndrome, Familial

NCT03956745

/ Active, not recruitingNot ApplicableIIT

Proteomic and Transcriptomic Biomarkers of Circadian Timing

Study investigators want to learn more about the underlying biological clock and to see if the timing of that clock can be estimated from a single blood sample.

Start Date01 Jun 2021

Sponsor / Collaborator

The Brigham & Women's Hospital, Inc.

[+2]

NCT03980340

/ Active, not recruitingNot ApplicableIIT

Breath Biomarkers for Sleep Loss and Circadian Timing

Insufficient sleep has both health and safety risks, but currently there are no quick, accurate and inexpensive ways to measure sleep deficiency. The current study aims to use a cutting-edge technology, small molecule analysis (e.g. metabolomics), to detect compounds in breath that reliably change with sleep-wake state and those whose levels vary by time of day.

Start Date28 Jan 2021

Sponsor / Collaborator

The Brigham & Women's Hospital, Inc.

100 Clinical Results associated with Advanced Sleep-Phase Syndrome, Familial

100 Translational Medicine associated with Advanced Sleep-Phase Syndrome, Familial

0 Patents (Medical) associated with Advanced Sleep-Phase Syndrome, Familial

114

Literatures (Medical) associated with Advanced Sleep-Phase Syndrome, Familial

01 Jan 2025·Handbook of Clinical Neurology

Advanced sleep phase syndrome: Role of genetics and aging

Review

Author: Silvestri, Rosalia ; Guarnieri, Biancamaria

Advanced sleep phase (ASP) is seldom brought to medical attention because many individuals easily adapt to their early chronotype, especially if it emerges before the age of 30 and is present in a first-degree relative. In this case, the disorder is considered familial (FASP) and is mostly discovered coincidentally in the presence of other sleep disorders, mainly obstructive sleep apnea syndrome (OSAS). The prevalence of FASP is currently estimated to be between 0.21% and 0.5%. Autosomal dominant mutations in circadian clock genes like PER2, CK1, PER3, CRY2, TIMELESS, and DEC2 have been linked to FASP, some with pleiotropic effects influencing other health aspects like migraine and depression. Early morning awakening is, instead, more common among older individuals, occurring in almost 4% of cases, without considering associated comorbidities. Advanced sleep-wake phase disorder (ASWPD) is characterized by a consistent and distressing anticipation of sleep-wake timing, affecting almost 1% of middle-aged individuals. On average, women have a shorter circadian period than men, making them more susceptible to ASWPD, albeit no significant gender discrepancies have been observed. Age-related alterations in circadian rhythms are exacerbated and compounded by neurodegenerative disorders, impacting the suprachiasmatic nucleus (SCN), sensitivity to light, and light responsiveness in those affected. Conflicting data has surfaced regarding the protective or detrimental effects of ASWPD in studies on aging, mild cognitive impairment (MCI), and diverse dementia conditions.

30 Jun 2024·Physical Activity and Nutrition

Readjustment of circadian clocks by exercise intervention is a potential therapeutic target for sleep disorders: a narrative review

Article

Author: Hong, Kwang-Seok ; Park, Jonghoon ; Park, Wonil ; Lee, Kwangjun

[Purpose] Circadian clocks are evolved endogenous biological systems that communicate with environmental cues to optimize physiological processes, such as the sleep-wake cycle, which is nearly related to quality of life. Sleep disorders can be treated using pharmacological strategies targeting melatonin, orexin, or core clock genes. Exercise has been widely explored as a behavioral treatment because it challenges homeostasis in the human body and affects the regulation of core clock genes. Exercise intervention at the appropriate time of the day can induce a phase shift in internal clocks. Although exercise is a strong external time cue for resetting the circadian clock, exercise therapy for sleep disorders remains poorly understood.[Methods] This review focused on exercise as a potential treatment for sleep disorders by tuning the internal circadian clock. We used scientific paper depositories, including Google Scholar, PubMed, and the Cochrane Library, to identify previous studies that investigated the effects of exercise on circadian clocks and sleep disorders.[Results] The exercise-induced adjustment of the circadian clock phase depended on exercise timing and individual chronotypes. Adjustment of circadian clocks through scheduled morning exercises can be appropriately prescribed for individuals with delayed sleep phase disorders. Individuals with advanced sleep phase disorders can synchronize their internal clocks with their living environment by performing evening exercises. Exercise-induced physiological responses are affected by age, sex, and current fitness conditions.[Conclusion] Personalized approaches are necessary when implementing exercise interventions for sleep disorders.

03 May 2024·Chronobiology International

Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders

Article

Author: Dolenc Grošelj, Leja ; Rozman, Damjana ; Skubic, Cene ; Plavc, Laura

Delayed sleep phase disorder and advanced sleep phase disorder cause disruption of the circadian clock and present with extreme morning/evening chronotype with unclear role of the genetic etiology, especially for delayed sleep phase disorder. To assess if genotyping can aid in clinical diagnosis, we examined the presence of genetic variants in circadian clock genes previously linked to both sleep disorders in Slovenian patient cohort. Based on Morning-evening questionnaire, we found 15 patients with extreme chronotypes, 13 evening and 2 morning, and 28 controls. Sanger sequencing was used to determine the presence of carefully selected candidate SNPs in regions of the CSNK1D, PER2/3 and CRY1 genes. In a patient with an extreme morning chronotype and a family history of circadian sleep disorder we identified two heterozygous missense variants in PER3 gene, c.1243C>G (NM_001377275.1 (p.Pro415Ala)) and c.1250A>G (NM_001377275.1 (p.His417Arg)). The variants were significantly linked to Advanced sleep phase disorder and were also found in proband's father with extreme morningness. Additionally, a rare SNP was found in PER2 gene in a patient with clinical picture of Delayed sleep phase disorder. The novel variant in PER2 (NM_022817.3):c.1901-218 G>T was found in proband's parent with eveningness, indicating an autosomal dominant inheritance. We identified a family with autosomal dominant inheritance of two PER3 heterozygous variants that can be linked to Advanced sleep phase disorder. We revealed also a rare hereditary form of Delayed sleep phase disorder with a new PER2 variant with autosomal dominant inheritance, shedding the light into the genetic causality.

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Advanced Sleep-Phase Syndrome, Familial

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