Oculocutaneous AlbinismSEPIAsNCT06138509
Peripheral Serotonin and Albinism
An observational study of Oculocutaneous Albinism, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Serotonin (5-HT or 5-hydroxytryptamine) is a monoamine primarily known for its role as a neurotransmitter in the central nervous system (CNS). However, the functions of serotonin go beyond its role in the central nervous system: different peripheral tissues have the capacity to produce and/or use serotonin locally… Read more about this study
- Who is it for?
- Ages 2 to 17 years
- Conditions the study is for
- Oculocutaneous Albinism
- What is being tested?
- Dosage of serotonin and metabolites and Blood parameters
- How many people
- 160 participants
- Where
- 1 siteFrance
- Study dates
- 6 Feb 2024to Feb 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 2 to 17 years
- All sexes
- No healthy volunteers
- Child
Study population: Patients will be recruited during a dermatology consultation at the Necker-Enfants Malades hospital. Recruitment, diagnosis of albinism and clinical, dermatological and ophthalmological characterization, as well as biological tests, will be carried out by the MAGEC reference center in Necker hospital (reference center for rare diseases of the skin and mucous membranes of genetic origin).
Who may be able to join
- Patients:
- Patients with albinism aged 2 to 17 years
- Followed in the MAGEC-Necker reference center (reference center for rare diseases of the skin and mucous membranes of genetic origin), during the inclusion period
- Information of parental authority holders of patients and patients of understanding age, and collection of consent from parental authority holders and patients.
- Controls:
- Patients aged 2 to 17 years old
Show all 10Show fewer
- Having consulted in Necker hospital during the inclusion period in the emergency and surgical services and whose care required a blood test analyzed in the hematology laboratory of the Necker hospital.
- Normal complete blood count (CBC)
- Normal C-reactive protein test (CRP)
- Absence of opposition from parental authority holders within one month of after sending the study information note.
Who cannot join
- Patients:
- Inability to have a blood test
- Controls:
- Abnormal blood count
- Elevation of CRP above laboratory standard
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, 1 recruiting
- Recruiting
Hôpital Necker-Enfants Malades
Paris, 75015
Smail HADJ-RABIA, MD, PhD, 1 44 49 46 62 ext. +33, smail.hadjrabia@aphp.fr
About this study
Official title: Role of Peripheral Serotonin in Oculocutaneous Albinism
Serotonin (5-HT or 5-hydroxytryptamine) is a monoamine primarily known for its role as a neurotransmitter in the central nervous system (CNS). However, the functions of serotonin go beyond its role in the central nervous system: different peripheral tissues have the capacity to produce and/or use serotonin locally, forming systems called "micro-serotonergic" systems. Among the peripheral roles of serotonin, previous work by the Iron and Immunity team, INSERM U1016, Institut Cochin (Paris), was able to show that serotonin has a positive role on erythropoiesis and the survival of red blood cells, and the team's ongoing work suggests that serotonin also impacts iron metabolism.
In humans and in mouse models, several studies have suggested a role for serotonin in pigmentation. In certain syndromic forms of albinism such as Hermansky Pudlak syndrome, platelet serotonin levels are reduced in connection with a decrease in dense platelet granules (delta granules): this characteristic is even part of the diagnostic criteria.
Read more
Preliminary data from the Iron and Immunity team found:
- Changes in serotonin levels in children with albinism compared to control patients,
- Changes in hemoglobin level and mean corpuscular volume (MCV) in children with albinism (towards anemia and microcytosis),
- Changes in the iron balance in children with albinism (towards iron deficiency).
The hypothesis of this research is that peripheral serotonin plays a role in the clinical and biological manifestations of oculocutaneous albinism.
Read the detailed description
Serotonin (5-HT or 5-hydroxytryptamine) is a monoamine primarily known for its role as a neurotransmitter in the central nervous system (CNS). However, the functions of serotonin go beyond its role in the central nervous system: different peripheral tissues have the capacity to produce and/or use serotonin locally, forming systems called "micro-serotonergic" systems. Among the peripheral roles of serotonin, previous work by the Iron and Immunity team, INSERM U1016, Institut Cochin (Paris), was able to show that serotonin has a positive role on erythropoiesis and the survival of red blood cells, and the team's ongoing work suggests that serotonin also impacts iron metabolism.
Albinism exhibits significant clinical and genetic heterogeneity with poor genotype-phenotype correlation, and nearly 15% of patients remain without a molecular diagnosis. There is no curative treatment for albinism. Patients with albinism suffer from physical disability throughout their lives, but can also suffer from psychological disability and discrimination. These patients are also more vulnerable to the effects of climate change. The unmet clinical needs are therefore enormous.
In humans and in mouse models, several studies have suggested an unexpected role for serotonin in skin pigmentation at several levels. Transcriptomic studies revealed that the Tph1 gene, responsible for serotonin synthesis outside the CNS, as well as serotonin receptors, were expressed in melanocytic and keratinocytic cell lines. Other studies have indicated that serotonin enhances melanogenesis in three melanocyte cell lines (B16F10, SK-MEL-2, Melan-a). Finally, studies suggest that serotonin is involved in pathologies such as certain congenital dyschromias, Rett syndrome and vitiligo. In certain syndromic forms of albinism such as Hermansky Pudlak syndrome, platelet serotonin levels are reduced in connection with a decrease in dense platelet granules (delta granules): this characteristic is even part of the diagnostic criteria.
Preliminary data from the Iron and Immunity team found:
- Changes in serotonin levels in children with albinism compared to control patients,
- Changes in hemoglobin level and mean corpuscular volume (MCV) in children with albinism (towards anemia and microcytosis),
- Changes in the iron balance in children with albinism (towards iron deficiency).
The hypothesis of this research is that peripheral serotonin plays a role in the clinical and biological manifestations of oculocutaneous albinism.
The study will assess serotonin and its metabolites in the serum of patients with albinism, and compare the results with controls patients. The level of serotonin and its metabolites will be correlated with the different genotypes, and with the severity of albinism within the same genotypes.
This study also wish to explore the impact of serotonin levels in the development of anemia, microcytosis and/or iron deficiency in patients with albinism. Complete blood counts and iron studies in patients with albinism will be compare to those of control patients too.
- Conditions
- Oculocutaneous Albinism
- Being tested
- Dosage of serotonin and metabolites, Blood parameters
- Keywords
- Oculocutaneous albinism, Peripheral serotonin, Anemia, Microcytosis, Iron deficiency
- Medical subject headings
- Albinism, Oculocutaneous, Anemia, Iron Deficiencies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Dosage of serotonin and metabolitesOther
The dosages of serotonin and its metabolites will be performed by the INSERM U1016 unit at Cochin Institute.
Blood parametersOther
The characterization of blood parameters : complete blood count (CBC), reticulocytes, C-reactive protein (CRP), iron studies (ferritin, serum iron, transferrin and transferrin saturation), hemoglobin electrophoresis, erythropoietin, will be added using standard methods at the Necker hematology laboratory if not carried out as part of the routine care.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Patients with albinism aged 2 to 17 years old and followed in the MAGEC-Necker reference center (reference center for rare diseases of the skin and mucous membranes of genetic origin), during the inclusion period.
During an initial or a follow-up consultation for patients with albinism, an additional volume of blood will be drawn during a blood sample drawn as part of routine care. Receives: Other: Dosage of serotonin and metabolites; Other: Blood parameters | |
| Control patients | Control patients are patients who were seen at Necker-Enfants Malades Hospital during the inclusion period, in the emergency and surgical departments, and whose care required a blood test analyzed in the Necker-Enfants Malades Hospital hematology laboratory.
These patients will be selected on their age (2 to 17 years old), and must have a normal complete blood count and CRP. Leftover blood not used by the hospital hematology laboratory will be used for study analyses. Receives: Other: Dosage of serotonin and metabolites; Other: Blood parameters |
What is being measured
The primary outcome is the main question the study is designed to answer.
Level of serotonin and its metabolites in serum
Levels of serotonin and its metabolites in serum in children with albinism, compared with control children.
Measured: Day 0
Secondary outcomes (4)
Correlation between serotonin levels and molecular subtype of albinism
Sequencing allowing molecular characterization of albinism is an integral part of diagnosis.
Measured: Day 0
Correlation between serotonin levels and severity of albinism
The severity of albinism : cutaneous severity is based on clinical estimation, and ophthalmological severity on visual acuity values and degree of foveal hypoplasia.
Measured: Day 0
Correlation between serotonin levels and iron studies
Determination of ferritin, serum iron, transferrin and transferrin saturation.
Measured: Day 0
Correlation between serotonin levels and hemoglobin
Results of complete blood count, reticulocytes, hemoglobin electrophoresis in case of microcytosis, and erythropoietin dosage.
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Nov 2023
- Study start6 Feb 2024
- Primary completionFeb 2026 (estimated)
- Study completionFeb 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (15)Papers the sponsor has linked to this study.
- Other trials for Oculocutaneous AlbinismStudies 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
- 160 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Smail HADJ-RABIA, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de ParisGuillemette FOUQUET, MD, Study director, Centre Hospitalier Sud Francilien (CHSF) and Cochin Institute, INSERM U1016, Team Iron and Immunity
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06138509
- Sponsor's protocol ID
- APHP230808
- Other IDs
- 2023-A01431-44
- Acronym
- SEPIAs
- Status last verified
- Sep 2025
- First submitted
- 14 Nov 2023
- Last updated
- 12 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Amireault P, Sibon D, Cote F. Life without peripheral serotonin: insights from tryptophan hydroxylase 1 knockout mice reveal the existence of paracrine/autocrine serotonergic networks. ACS Chem Neurosci. 2013 Jan 16;4(1):64-71. doi: 10.1021/cn300154j. Epub 2012 Nov 7.
PubMed 23336045Yabut JM, Crane JD, Green AE, Keating DJ, Khan WI, Steinberg GR. Emerging Roles for Serotonin in Regulating Metabolism: New Implications for an Ancient Molecule. Endocr Rev. 2019 Aug 1;40(4):1092-1107. doi: 10.1210/er.2018-00283.
PubMed 30901029Fouquet G, Coman T, Hermine O, Cote F. Serotonin, hematopoiesis and stem cells. Pharmacol Res. 2019 Feb;140:67-74. doi: 10.1016/j.phrs.2018.08.005. Epub 2018 Aug 11.
PubMed 30107202English KB, Wang ZZ, Stayner N, Stensaas LJ, Martin H, Tuckett RP. Serotonin-like immunoreactivity in Merkel cells and their afferent neurons in touch domes from the hairy skin of rats. Anat Rec. 1992 Jan;232(1):112-20. doi: 10.1002/ar.1092320112.
PubMed 1536455Johansson O, Liu PY, Bondesson L, Nordlind K, Olsson MJ, Lontz W, Verhofstad A, Liang Y, Gangi S. A serotonin-like immunoreactivity is present in human cutaneous melanocytes. J Invest Dermatol. 1998 Dec;111(6):1010-4. doi: 10.1046/j.1523-1747.1998.00460.x.
PubMed 9856809Lee HJ, Park MK, Kim SY, Park Choo HY, Lee AY, Lee CH. Serotonin induces melanogenesis via serotonin receptor 2A. Br J Dermatol. 2011 Dec;165(6):1344-8. doi: 10.1111/j.1365-2133.2011.10490.x. Epub 2011 Oct 17.
PubMed 21711335Slominski A, Pisarchik A, Semak I, Sweatman T, Wortsman J, Szczesniewski A, Slugocki G, McNulty J, Kauser S, Tobin DJ, Jing C, Johansson O. Serotoninergic and melatoninergic systems are fully expressed in human skin. FASEB J. 2002 Jun;16(8):896-8. doi: 10.1096/fj.01-0952fje. Epub 2002 Apr 23.
PubMed 12039872Slominski A, Pisarchik A, Zbytek B, Tobin DJ, Kauser S, Wortsman J. Functional activity of serotoninergic and melatoninergic systems expressed in the skin. J Cell Physiol. 2003 Jul;196(1):144-53. doi: 10.1002/jcp.10287.
PubMed 12767050Zhou L, Cai M, Ren Y, Wu H, Liu M, Chen H, Shang J. The different roles of 5-HT1A/2A receptors in fluoxetine ameliorated pigmentation of C57BL/6 mouse skin in response to stress. J Dermatol Sci. 2018 Dec;92(3):222-229. doi: 10.1016/j.jdermsci.2018.10.002. Epub 2018 Oct 25.
PubMed 30527375Liu L, Fu M, Pei S, Zhou L, Shang J. R-Fluoxetine Increases Melanin Synthesis Through a 5-HT1A/2A Receptor and p38 MAPK Signaling Pathways. Int J Mol Sci. 2018 Dec 25;20(1):80. doi: 10.3390/ijms20010080.
PubMed 30585252Enkhtaivan E, Lee CH. Role of Amine Neurotransmitters and Their Receptors in Skin Pigmentation: Therapeutic Implication. Int J Mol Sci. 2021 Jul 28;22(15):8071. doi: 10.3390/ijms22158071.
PubMed 34360837Schallreuter KU, Salem MA, Gibbons NC, Martinez A, Slominski R, Ludemann J, Rokos H. Blunted epidermal L-tryptophan metabolism in vitiligo affects immune response and ROS scavenging by Fenton chemistry, part 1: Epidermal H2O2/ONOO(-)-mediated stress abrogates tryptophan hydroxylase and dopa decarboxylase activities, leading to low serotonin and melatonin levels. FASEB J. 2012 Jun;26(6):2457-70. doi: 10.1096/fj.11-197137. Epub 2012 Mar 13.
PubMed 22415302Maurer-Spurej E, Dyker K, Gahl WA, Devine DV. A novel immunocytochemical assay for the detection of serotonin in platelets. Br J Haematol. 2002 Mar;116(3):604-11. doi: 10.1046/j.0007-1048.2001.03302.x.
PubMed 11849219Thompson JH. Iron absorption and serotonin (5-hydroxytryptamine) antagonism. Arch Int Pharmacodyn Ther. 1965 Aug;156(2):249-54. No abstract available.
PubMed 5868935Amireault P, Hatia S, Bayard E, Bernex F, Collet C, Callebert J, Launay JM, Hermine O, Schneider E, Mallet J, Dy M, Cote F. Ineffective erythropoiesis with reduced red blood cell survival in serotonin-deficient mice. Proc Natl Acad Sci U S A. 2011 Aug 9;108(32):13141-6. doi: 10.1073/pnas.1103964108. Epub 2011 Jul 25.
PubMed 21788492
Study at a glance
From the registry record, last updated by the sponsor on 12 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Role of Peripheral Serotonin in Oculocutaneous Albinism
- ClinicalTrials.gov ID
- NCT06138509
- Acronym / sponsor ID
- SEPIAs / APHP230808
- Conditions
- Oculocutaneous Albinism
- Keywords
- Oculocutaneous albinism, Peripheral serotonin, Anemia, Microcytosis, Iron deficiency
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 160 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 6 Feb 2024 (actual)
- Primary completion
- Feb 2026 (estimated)
- Study completion
- Feb 2026 (estimated)
- First posted
- 18 Nov 2023 (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.
Serotonin (5-HT or 5-hydroxytryptamine) is a monoamine primarily known for its role as a neurotransmitter in the central nervous system (CNS). However, the functions of serotonin go beyond its role in the central nervous system: different peripheral tissues have the capacity to produce and/or use serotonin locally, forming systems called "micro-serotonergic" systems. Among the peripheral roles of serotonin, previous work by the Iron and Immunity team, INSERM U1016, Institut Cochin (Paris), was able to show that serotonin has a positive role on erythropoiesis and the survival of red blood cells, and the team's ongoing work suggests that serotonin also impacts iron metabolism.
In humans and in mouse models, several studies have suggested a role for serotonin in pigmentation. In certain syndromic forms of albinism such as Hermansky Pudlak syndrome, platelet serotonin levels are reduced in connection with a decrease in dense platelet granules (delta granules): this characteristic is even part of the diagnostic criteria.
Preliminary data from the Iron and Immunity team found:
- Changes in serotonin levels in children with albinism compared to control patients,
- Changes in hemoglobin level and mean corpuscular volume (MCV) in children with albinism (towards anemia and microcytosis),
- Changes in the iron balance in children with albinism (towards iron deficiency).
The hypothesis of this research is that peripheral serotonin plays a role in the clinical and biological manifestations of oculocutaneous albinism.
Detailed description
Serotonin (5-HT or 5-hydroxytryptamine) is a monoamine primarily known for its role as a neurotransmitter in the central nervous system (CNS). However, the functions of serotonin go beyond its role in the central nervous system: different peripheral tissues have the capacity to produce and/or use serotonin locally, forming systems called "micro-serotonergic" systems. Among the peripheral roles of serotonin, previous work by the Iron and Immunity team, INSERM U1016, Institut Cochin (Paris), was able to show that serotonin has a positive role on erythropoiesis and the survival of red blood cells, and the team's ongoing work suggests that serotonin also impacts iron metabolism.
Albinism exhibits significant clinical and genetic heterogeneity with poor genotype-phenotype correlation, and nearly 15% of patients remain without a molecular diagnosis. There is no curative treatment for albinism. Patients with albinism suffer from physical disability throughout their lives, but can also suffer from psychological disability and discrimination. These patients are also more vulnerable to the effects of climate change. The unmet clinical needs are therefore enormous.
In humans and in mouse models, several studies have suggested an unexpected role for serotonin in skin pigmentation at several levels. Transcriptomic studies revealed that the Tph1 gene, responsible for serotonin synthesis outside the CNS, as well as serotonin receptors, were expressed in melanocytic and keratinocytic cell lines. Other studies have indicated that serotonin enhances melanogenesis in three melanocyte cell lines (B16F10, SK-MEL-2, Melan-a). Finally, studies suggest that serotonin is involved in pathologies such as certain congenital dyschromias, Rett syndrome and vitiligo. In certain syndromic forms of albinism such as Hermansky Pudlak syndrome, platelet serotonin levels are reduced in connection with a decrease in dense platelet granules (delta granules): this characteristic is even part of the diagnostic criteria.
Preliminary data from the Iron and Immunity team found:
- Changes in serotonin levels in children with albinism compared to control patients,
- Changes in hemoglobin level and mean corpuscular volume (MCV) in children with albinism (towards anemia and microcytosis),
- Changes in the iron balance in children with albinism (towards iron deficiency).
The hypothesis of this research is that peripheral serotonin plays a role in the clinical and biological manifestations of oculocutaneous albinism.
The study will assess serotonin and its metabolites in the serum of patients with albinism, and compare the results with controls patients. The level of serotonin and its metabolites will be correlated with the different genotypes, and with the severity of albinism within the same genotypes.
This study also wish to explore the impact of serotonin levels in the development of anemia, microcytosis and/or iron deficiency in patients with albinism. Complete blood counts and iron studies in patients with albinism will be compare to those of control patients too.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients | – | Other: Dosage of serotonin and metabolites, Other: Blood parametersPatients with albinism aged 2 to 17 years old and followed in the MAGEC-Necker reference center (reference center for rare diseases of the skin and mucous membranes of genetic origin), during the inclusion period. During an initial or a follow-up consultation for patients with albinism, an additional volume of blood will be drawn during a blood sample drawn as part of routine care. |
| Control patients | – | Other: Dosage of serotonin and metabolites, Other: Blood parametersControl patients are patients who were seen at Necker-Enfants Malades Hospital during the inclusion period, in the emergency and surgical departments, and whose care required a blood test analyzed in the Necker-Enfants Malades Hospital hematology laboratory. These patients will be selected on their age (2 to 17 years old), and must have a normal complete blood count and CRP. Leftover blood not used by the hospital hematology laboratory will be used for study analyses. |
Who may qualify
- Ages
- 2 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Patients will be recruited during a dermatology consultation at the Necker-Enfants Malades hospital. Recruitment, diagnosis of albinism and clinical, dermatological and ophthalmological characterization, as well as biological tests, will be carried out by the MAGEC reference center in Necker hospital (reference center for rare diseases of the skin and mucous membranes of genetic origin).
Key inclusion criteria (10 listed)
- Patients with albinism aged 2 to 17 years
- Followed in the MAGEC-Necker reference center (reference center for rare diseases of the skin and mucous membranes of genetic origin), during the inclusion period
- Information of parental authority holders of patients and patients of understanding age, and collection of consent from parental authority holders and patients.
- Patients aged 2 to 17 years old
- Having consulted in Necker hospital during the inclusion period in the emergency and surgical services and whose care required a blood test analyzed in the hematology laboratory of the Necker hospital.
Key exclusion criteria (5 listed)
- Inability to have a blood test
- Abnormal blood count
- Elevation of CRP above laboratory standard
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 |
|---|---|---|
| Dosage of serotonin and metabolitesThe dosages of serotonin and its metabolites will be performed by the INSERM U1016 unit at Cochin Institute. | Other | Control patients, Patients |
| Blood parametersThe characterization of blood parameters : complete blood count (CBC), reticulocytes, C-reactive protein (CRP), iron studies (ferritin, serum iron, transferrin and transferrin saturation), hemoglobin electrophoresis, erythropoietin, will be added using standard methods at the Necker hematology laboratory if not carried out as part of the routine care. | Other | Control patients, Patients |
Primary outcome
Level of serotonin and its metabolites in serum
Time frame: Day 0
Levels of serotonin and its metabolites in serum in children with albinism, compared with control children.
4 secondary outcomes
Correlation between serotonin levels and molecular subtype of albinism
Time frame: Day 0
Correlation between serotonin levels and severity of albinism
Time frame: Day 0
Correlation between serotonin levels and iron studies
Time frame: Day 0
Correlation between serotonin levels and hemoglobin
Time frame: Day 0
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 12 Sep 2025.
- Background: PubMed 23336045Amireault P, Sibon D, Cote F. Life without peripheral serotonin: insights from tryptophan hydroxylase 1 knockout mice reveal the existence of paracrine/autocrine serotonergic networks. ACS Chem Neurosci. 2013 Jan 16;4(1):64-71. doi: 10.1021/cn300154j. Epub 2012 Nov 7.
- Background: PubMed 30901029Yabut JM, Crane JD, Green AE, Keating DJ, Khan WI, Steinberg GR. Emerging Roles for Serotonin in Regulating Metabolism: New Implications for an Ancient Molecule. Endocr Rev. 2019 Aug 1;40(4):1092-1107. doi: 10.1210/er.2018-00283.
- Background: PubMed 30107202Fouquet G, Coman T, Hermine O, Cote F. Serotonin, hematopoiesis and stem cells. Pharmacol Res. 2019 Feb;140:67-74. doi: 10.1016/j.phrs.2018.08.005. Epub 2018 Aug 11.
- Background: PubMed 1536455English KB, Wang ZZ, Stayner N, Stensaas LJ, Martin H, Tuckett RP. Serotonin-like immunoreactivity in Merkel cells and their afferent neurons in touch domes from the hairy skin of rats. Anat Rec. 1992 Jan;232(1):112-20. doi: 10.1002/ar.1092320112.
- Background: PubMed 9856809Johansson O, Liu PY, Bondesson L, Nordlind K, Olsson MJ, Lontz W, Verhofstad A, Liang Y, Gangi S. A serotonin-like immunoreactivity is present in human cutaneous melanocytes. J Invest Dermatol. 1998 Dec;111(6):1010-4. doi: 10.1046/j.1523-1747.1998.00460.x.
- Background: PubMed 21711335Lee HJ, Park MK, Kim SY, Park Choo HY, Lee AY, Lee CH. Serotonin induces melanogenesis via serotonin receptor 2A. Br J Dermatol. 2011 Dec;165(6):1344-8. doi: 10.1111/j.1365-2133.2011.10490.x. Epub 2011 Oct 17.
- Background: PubMed 12039872Slominski A, Pisarchik A, Semak I, Sweatman T, Wortsman J, Szczesniewski A, Slugocki G, McNulty J, Kauser S, Tobin DJ, Jing C, Johansson O. Serotoninergic and melatoninergic systems are fully expressed in human skin. FASEB J. 2002 Jun;16(8):896-8. doi: 10.1096/fj.01-0952fje. Epub 2002 Apr 23.
- Background: PubMed 12767050Slominski A, Pisarchik A, Zbytek B, Tobin DJ, Kauser S, Wortsman J. Functional activity of serotoninergic and melatoninergic systems expressed in the skin. J Cell Physiol. 2003 Jul;196(1):144-53. doi: 10.1002/jcp.10287.
- Background: PubMed 30527375Zhou L, Cai M, Ren Y, Wu H, Liu M, Chen H, Shang J. The different roles of 5-HT1A/2A receptors in fluoxetine ameliorated pigmentation of C57BL/6 mouse skin in response to stress. J Dermatol Sci. 2018 Dec;92(3):222-229. doi: 10.1016/j.jdermsci.2018.10.002. Epub 2018 Oct 25.
- Background: PubMed 30585252Liu L, Fu M, Pei S, Zhou L, Shang J. R-Fluoxetine Increases Melanin Synthesis Through a 5-HT1A/2A Receptor and p38 MAPK Signaling Pathways. Int J Mol Sci. 2018 Dec 25;20(1):80. doi: 10.3390/ijms20010080.
- Background: PubMed 34360837Enkhtaivan E, Lee CH. Role of Amine Neurotransmitters and Their Receptors in Skin Pigmentation: Therapeutic Implication. Int J Mol Sci. 2021 Jul 28;22(15):8071. doi: 10.3390/ijms22158071.
- Background: PubMed 22415302Schallreuter KU, Salem MA, Gibbons NC, Martinez A, Slominski R, Ludemann J, Rokos H. Blunted epidermal L-tryptophan metabolism in vitiligo affects immune response and ROS scavenging by Fenton chemistry, part 1: Epidermal H2O2/ONOO(-)-mediated stress abrogates tryptophan hydroxylase and dopa decarboxylase activities, leading to low serotonin and melatonin levels. FASEB J. 2012 Jun;26(6):2457-70. doi: 10.1096/fj.11-197137. Epub 2012 Mar 13.
- Individual participant dataSharing planned: No
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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.
Smail HADJ-RABIA, MD, PhD principal investigator
Assistance Publique - Hôpitaux de Paris
Guillemette FOUQUET, MD study director
Centre Hospitalier Sud Francilien (CHSF) and Cochin Institute, INSERM U1016, Team Iron and Immunity
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 Oculocutaneous Albinism, 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 10 inclusion and 5 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: looking for participants now, as of the sponsor's last update on 12 Sep 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?
Contact Smail HADJ-RABIA, MD, PhD (1 44 49 46 62 ext. +33, smail.hadjrabia@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Level of serotonin and its metabolites in serum (time frame: Day 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06138509, which also lists 15 linked publications.
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 12 Sep 2025.