EICHORCondition: Oculocutaneous Albinism · Sponsor: Assistance Publique - Hôpitaux de Paris
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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 manifesta…
This description comes directly from the study's public registry record.
Smail HADJ-RABIA, MD, PhD · 1 44 49 46 62 · smail.hadjrabia@aphp.fr
Hélène Morel · 1 44 38 16 53 · helene.morel@aphp.fr
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Inclusion Criteria: 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. Exclusion Criteria: Patients: \- Inability to have a blood test Controls: * Abnormal blood count * Elevation of CRP above laboratory standard
Reproduced word-for-word from the public registry record — the study team can answer questions about it.
| Hôpital Necker-Enfants Malades | Paris, France | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06138509