Universal Newborn Screening For Sickle Cell Disease In Mozambique

The overarching goal of this study is to evaluate the feasibility of a new methodology that combines three multi-level implementation strategies to optimize the population-level uptake of essential evidence-based, standard of care treatments for infants with sickle cell disease (SCD) in low-resource settings. The study will be done in Mozambique.

Study Overview

• Status: Not yet recruiting
• Conditions: Sickle Cell Disease
• Intervention / Treatment: Other: Point-of-care testing (POCT) -Patient participants; Other: Point-of-care testing (POCT) - Healthy control participants; Other: Context Assessment for Community Health (COACH) survey; Other: Semi-structured interview

Detailed Description

This prospective mixed-methods hybrid effectiveness-implementation feasibility study will evaluate the feasibility and effectiveness of an implementation strategy package designed to improve early diagnosis and care entry for children born with sickle cell disease (SCD) in rural, low-resource settings. The implementation strategy package includes three components: 1) integration of essential products into national supply chain systems, 2) integration of systematic newborn screening using point-of-care-testing into clinical site workflows and 3) linkage of children who screen positive to a PEN-Plus Non-Communicable Disease (NCD) clinic for longitudinal care. Participants will be tracked longitudinally to evaluate protocol adoption over time and clinical outcomes among participating children at 2 years of age.

Primary Objective

• To test if combining three multi-level implementation strategies can facilitate systematic birth diagnosis and timely linkage to evidence-based care interventions for infants with SCD in under-resourced settings.

Secondary Objectives (Micro level):

• To test the clinical effectiveness of implementing the BB-SCD through the three combined implementation strategies to prevent excess mortality of children with SCD under the age of 2 years.
• To evaluate the effectiveness of combining the three implementation strategies to promote care retention among infants with SCD by 2 years of age.

Secondary Objectives (Meso level)

• To evaluate the institutional coverage and health facility staff adoption of the treatment for infants through the combined implementation strategies.
• To evaluate the need for a confirmatory test among positive and negative screening results using POCT.
• To conduct a cost-effectiveness analysis of the combined implementation strategies.

Secondary Objective (Macro level)

• To evaluate the operational effectiveness of integrating the procurement of SCD consumables into national supply chain systems to achieve sustainable availability, effective last mile delivery to relevant clinics and stockout avoidance.

• Study Type: Interventional
• Enrollment (Estimated): 6750
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Jane Hankins, MD; Phone Number: 888-226-4343; Email: referralinfo@stjude.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria:

• Children participants: All infants between birth and 6.0 months of age who are born or receive care at secondary-level facilities involved in the UNIQUE study.

• Children participants will fall into one of two categories:

  • Patient participants: All infants between birth and 6.0 months of age who were screened through the UNIQUE study and tested positive for SCD (HbSS, HbSC, or other form of SCD) or had indeterminate results.
  • Healthy control participants: Infants between birth and 6.0 months of age who screen negative for SCD (HbAA) through the UNIQUE study or tested positive for sickle cell trait (HbAS).
• Health facility staff participants: Healthcare staff ages ≥18 years working at secondary-level facilities involved in the UNIQUE study.
• Supply chain expert participants: Administrative professionals with experience working in or around the national supply chain systems in Mozambique to support procurement, importation, customs clearance, storage, and in-country distribution of medical products.
• National public health system expert participants: Administrative professionals with experience working in the national public health system (e.g., Ministry of Health, MISAU) who oversee the delivery of health services to infants in-country, such as neonatal testing and vaccination programs.

Exclusion Criteria:

• Children participants:

  • Stillbirths.
  • Children who received an erythrocyte (blood) transfusion within 3 months of testing. Exogenous (transfused) HbA could artificially lower the sickle hemoglobin concentration, thus causing false-negative results.
• Patient participants: none

• Healthy control participants:

  • Stillbirths.
  • Children who received an erythrocyte (blood) transfusion within 3 months of testing. Exogenous (transfused) HbA could artificially lower the sickle hemoglobin concentration, thus causing false-negative results.
• Health facility staff participants: none.
• Supply chain expert participants: none.
• National public health system expert participants: none.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

5

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Patient participants; All infants between birth and 6.0 months of age who were screened through the UNIQUE study and tested positive for SCD (HbSS, HbSC, or other form of SCD) or had indeterminate results.	Other: Point-of-care testing (POCT) -Patient participants; Infants will be screened for Sickle Cell Disease using with point-of-care testing (POCT).
Other: Healthy control participants; Infants between birth and 6.0 months of age who screen negative for SCD (HbAA) through the UNIQUE study or tested positive for sickle cell trait (HbAS).	Other: Point-of-care testing (POCT) - Healthy control participants; Infants will be screened for Sickle Cell Disease using with point-of-care testing (POCT) and prospectively monitored for survival.
Other: Health facility staff participants; Healthcare staff ages ≥18 years working at secondary-level facilities involved in the UNIQUE study.	Other: Context Assessment for Community Health (COACH) survey; The COACH survey will collect quantitative data on eight contextual factors that impact a site's ability to implement evidence-based interventions.; Other: Semi-structured interview; Interview questions will revolve primarily around the current process for SCD screening and care referrals, factors impacting newborn care delivery and screening, and challenges to integrating SCD newborn screening and care referral into standard care delivery.
Other: Supply chain expert participants; Administrative professionals with experience working in or around the national supply chain systems in Mozambique to support procurement, importation, customs clearance, storage, and in-country distribution of medical products.	Other: Semi-structured interview; Interview questions will revolve primarily around the current process for SCD screening and care referrals, factors impacting newborn care delivery and screening, and challenges to integrating SCD newborn screening and care referral into standard care delivery.
Other: National public health system expert participants; Administrative professionals with experience working in the national public health system (e.g., Ministry of Health, MISAU) who oversee the delivery of health services to infants in-country, such as neonatal testing and vaccination programs.	Other: Semi-structured interview; Interview questions will revolve primarily around the current process for SCD screening and care referrals, factors impacting newborn care delivery and screening, and challenges to integrating SCD newborn screening and care referral into standard care delivery.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Percentage of eligible population screened for Sickle Cell Disease	3 years
Percentage of new SCD cases linked to care	3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comparison of under-2 mortality between participants with SCD whom received longitudinal care and participants who screened negative for SCD	The primary outcome measure will be 'Alive and in care: Yes or No'.	2 years post-screening and therapy
Percentage of SCD cases retained in care by 2 years of age		2 years post-screening and therapy
Percentage of eligible secondary-level clinical wards implementing systematic screening and linkage to longitudinal care for new SCD cases		3 years
Percentage of eligible health facility staff participants in secondary-level clinical wards implementing systematic screening and linkage to longitudinal care for new SCD cases		3 years
Comparison of SCD Screening Performance Results from Initial point-of-care (POCT), Gazelle, and Hemoglobin Fractionation	Investigators will estimate the sensitivity (proportion of diseased subjects that yield a positive test result) and specificity (the proportion of non-diseased subjects that yield a negative test result) of the POCT for detecting SCD compared to the gold standard with basic proportions.	3 years
Cost-Effectiveness of Integrating SCD Consumables into National Supply Chains	The standard formula known as incremental cost-effectiveness ratios (ICERs) will be used. ICER is a summary statistic used in economic evaluations to compare the relative value of different healthcare interventions. It is scored by comparing the resulting cost-per-QALY against a predefined threshold, where lower ICERs indicate better value.	2 to 5 years
Cost-Effectiveness of POCT for Early SCD Diagnosis	The standard formula known as incremental cost-effectiveness ratios (ICERs) will be used. ICER is a summary statistic used in economic evaluations to compare the relative value of different healthcare interventions. It is scored by comparing the resulting cost-per-QALY against a predefined threshold, where lower ICERs indicate better value.	2 to 5 years
Cost-Effectiveness of Decentralized PEN-Plus SCD Management	The standard formula known as incremental cost-effectiveness ratios (ICERs) will be used. ICER is a summary statistic used in economic evaluations to compare the relative value of different healthcare interventions. It is scored by comparing the resulting cost-per-QALY against a predefined threshold, where lower ICERs indicate better value.	2 to 5 years
Frequency of SCD Supply Stockouts at Study Sites		5 years

Collaborators and Investigators

• Sponsor: St. Jude Children's Research Hospital
• Investigators: Principal Investigator: Jane Hankins, MD, St. Jude Children's Research Hospital; Principal Investigator: Ana O. Mocumbi, MD PhD FESC, Eduardo Mondlane University, National Institute of Health, Chronic Disease Determinants Program

Publications and helpful links

Helpful Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

Study record dates

Study Major Dates

• Study Start (Estimated): August 1, 2026
• Primary Completion (Estimated): August 1, 2031
• Study Completion (Estimated): August 1, 2031

Study Registration Dates

• First Submitted: July 17, 2026
• First Submitted That Met QC Criteria: July 17, 2026
• First Posted (Actual): July 22, 2026

Study Record Updates

• Last Update Posted (Actual): July 22, 2026
• Last Update Submitted That Met QC Criteria: July 17, 2026
• Last Verified: July 1, 2026

More Information

Terms related to this study

• Keywords: Mozambique; Patient participants; Healthy control participants; Health facility staff participants; Supply chain expert participants; National public health system expert participants
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Hematologic Diseases; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hemoglobinopathies; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Anemia, Sickle Cell; Health Services Administration; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Environment and Public Health; Population Characteristics; Patient Care Management; Health; Point-of-Care Systems; Surveys and Questionnaires; Point-of-Care Testing; Public Health
• Other Study ID Numbers: UNIQUE; U1111-1335-3817 (Other Identifier: World Health Organization (Universal Trial Number))

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No