Exploring the role of serotonin in oculocutaneous albinism
Role of Peripheral Serotonin in Oculocutaneous Albinism
This study is trying to see how serotonin levels in the blood affect skin and eye color in kids and teens with oculocutaneous albinism.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 160 (estimated) |
| Ages | 2 Years to 17 Years |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Paris) |
| Trial ID | NCT06138509 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the relationship between peripheral serotonin levels and oculocutaneous albinism in patients aged 2 to 17 years. It aims to assess blood parameters and serotonin metabolites to understand their potential impact on pigmentation and iron metabolism. The study will involve patients with albinism and a control group from the Necker hospital, focusing on the clinical and genetic heterogeneity of albinism. By examining these factors, the research seeks to address significant unmet clinical needs in this population.
Who should consider this trial
Good fit: Ideal candidates for this study are patients aged 2 to 17 years diagnosed with oculocutaneous albinism.
Not a fit: Patients who are unable to undergo blood tests or have abnormal blood counts will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of the role of serotonin in pigmentation and iron metabolism, potentially informing future treatments for patients with albinism.
How similar studies have performed: While the role of serotonin in pigmentation is being explored, this specific approach in the context of oculocutaneous albinism is relatively novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Paris
- Hôpital Necker-Enfants Malades — Paris, France (Recruiting)
Study contacts
- Principal investigator: Smail HADJ-RABIA, MD, PhD — Assistance Publique - Hôpitaux de Paris
- Study coordinator: Smail HADJ-RABIA, MD, PhD
- Email: smail.hadjrabia@aphp.fr
- Phone: 1 44 49 46 62
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.