Role of Peripheral Serotonin in Oculocutaneous Albinism

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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, 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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 2
Maximum Age: 17
Healthy Volunteers: f
View:

⁃ 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.

Locations
Other Locations
France
Hôpital Necker-Enfants Malades
RECRUITING
Paris
Contact Information
Primary
Smail HADJ-RABIA, MD, PhD
smail.hadjrabia@aphp.fr
1 44 49 46 62
Backup
Hélène Morel
helene.morel@aphp.fr
1 44 38 16 53
Time Frame
Start Date: 2024-02-06
Estimated Completion Date: 2026-02
Participants
Target number of participants: 160
Treatments
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.
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.
Sponsors
Collaborators: URC-CIC Paris Descartes Necker Cochin
Leads: Assistance Publique - Hôpitaux de Paris

This content was sourced from clinicaltrials.gov