There is a rising global burden of neurodevelopmental disorders, with particularly limited epidemiologic and diagnostic data from low- and middle-income countries such as Nigeria. The prevalence and characteristics of Fragile X disorders—including Fragile X syndrome (full mutation) and premutation-associated conditions—are not well described nationally in Nigeria. The CHAMP-FX initiative (Advancing Mental Health and Well-being of Nigerian Children Through Public Health Screening for Fragile X Disorders) is designed to address these gaps by implementing targeted screening, strengthening diagnostic capacity, and creating pathways to supportive and targeted care.
The primary objective is to estimate the proportion of children with Fragile X full mutation or premutation within a selected cohort of Nigerian children presenting with intellectual disability, autism spectrum disorder, and/or global developmental delay. Secondary objectives include describing the distribution of CGG repeat sizes and evaluating associations between genetic findings and sociodemographic or clinical variables. The protocol also aims to provide structured result disclosure, genetic counselling, referral for supportive interventions, and access to targeted therapy where indicated.
CHAMP-FX is a prospective, multicentre screening study with longitudinal follow-up. Recruitment is planned from six tertiary hospitals, each representing one of Nigeria’s six geopolitical zones. The multicentre design supports geographic representation and aims to strengthen diagnostic pathways across varied clinical settings.
Eligible participants are children aged 1–18 years who have intellectual disability, autism spectrum disorder, and/or global developmental delay. The study employs purposive sampling to enroll a total of 102 participants, with 17 participants recruited per geopolitical zone. Sociodemographic and clinical eligibility and baseline characteristics will be recorded prior to sample collection.
Sociodemographic data and clinical evaluations will be captured electronically using KoboToolbox. Clinical assessment focuses on neurodevelopmental diagnoses and relevant medical and developmental history. Data collection is standardized across sites to support pooled analysis and cross-zone comparisons.
Blood specimens will be collected as dried blood spots on quick-response coded filter cards. Cards will be stored with desiccant to preserve sample integrity and transported to the coordinating molecular laboratory. The use of dried blood spots facilitates standardized collection and centralized molecular analysis while accommodating logistical constraints across multiple sites.
Genetic testing will follow a long-range amplification workflow with subsequent long-read sequencing to determine CGG repeat sizes. Results will be classified according to internationally accepted thresholds for normal, premutation, and full mutation ranges. The laboratory workflow and thresholds referenced in the protocol are intended to ensure accurate repeat sizing and consistent classification across samples.
The primary outcome is the proportion of recruited participants who test positive for Fragile X full mutation or premutation. Secondary outcomes include the distribution of CGG repeat sizes and analyses of associations between genetic classification and sociodemographic or clinical variables collected via KoboToolbox. The protocol specifies prospective data capture and planned longitudinal follow-up to evaluate outcomes and service needs; detailed statistical methods were described in the source protocol.
Participants who screen positive will receive structured result disclosure and genetic counselling. The protocol includes referral pathways for appropriate supportive interventions. For children diagnosed with Fragile X syndrome, targeted therapy with metformin will be offered as part of the management strategy. Longitudinal follow-up is incorporated to monitor clinical outcomes, intervention uptake, and service needs.
The study is positioned as a public-health screening initiative with procedures for counselling and referral embedded in the protocol. Findings from CHAMP-FX will be disseminated through peer-reviewed publications, conference presentations, and stakeholder engagement to inform policy, diagnostic capacity-building, and clinical pathways. The source article reports that study approvals and ethical oversight are in place as described in the full protocol.
CHAMP-FX addresses a recognized data gap on Fragile X disorders in Nigeria by combining targeted clinical screening with centralized long-read genetic testing and structured post-test care. The multicentre design and use of dried blood spot collection aim to make screening feasible across diverse regions. Beyond estimating prevalence in a clinically selected cohort, the study seeks to strengthen diagnostic capacity, provide genetic counselling and referrals, and offer targeted therapy for Fragile X syndrome. Dissemination of results is intended to support broader public-health planning and improvements in care for children with neurodevelopmental disorders in Nigeria.