Peripheral Serotonin and Albinism
Recruiting now
Conditions studied: Oculocutaneous Albinism
In brief
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.
Key facts
- Study ID
- NCT06138509
- Run by
- Assistance Publique - Hôpitaux de Paris
- People needed
- 160
- Starts
- 2024-02-06
- Expected to finish
- 2026-02-01
- Last updated by the study team
- 2025-09-12
Who can join
Age: 2 and older, up to 17. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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
- 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.
You may not qualify if…
- Patients:
- Inability to have a blood test
- Controls:
- Abnormal blood count
- Elevation of CRP above laboratory standard
Where it is running
- Hôpital Necker-Enfants Malades — Paris, France (enrolling)
Full record on ClinicalTrials.gov
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