Neonatal Screening for Haemoglobinopathies EmoCamp

NCT07009821 | Not Yet Recruiting

• 1 other identifier: EmoCamp
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

Hereditary haemoglobin defects defined under the term haemoglobinopathies represent the most frequent congenital diseases worldwide. The proposed observational study is aimed at determining the prevalence of haemoglobinopathies in newborns in the Campania Region. The neonatal screening test will be performed at the birth centers in Campania Region, before the newborn's discharge, at the same time as the sampling for neonatal screening required by law. The main objective of this study is to evaluate the feasibility and impact of the screening programme performed at the birth centers on the earliness of diagnosis and the annual rate of sickle cell anaemia diagnosis in children. The secondary objective is to evaluate the benefits of early diagnosis of SCD in children as measured by two endpoints:

• Improved disease management and early initiation of conventional therapy with reduction of complications, potentially fatal;
• Difference between costs related to the neonatal screening programme and estimated costs related to conventional screening and treatment resulting from complications that may arise with late diagnosis.

Conditions

SCD

Keywords

SCD; neonatal screening

Outcome Measures

Primary Outcomes (1)

• determination of haemoglobin fractions

  Patients were assessed for the presence of abnormal haemoglobin fractions by means of the HPLC method on a peripheral blood drop

  Perioperative/Periprocedural

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The test will be carried out on all newborns in the Campania region after signing the specific informed consent of their parents or legal guardians.

You may qualify if:

• newborns at higher risk of disease.

Sponsors & Collaborators

• Maddalena Casale: lead

Study Sites (1)

Azienda Ospedaliera Universitaria "Luigi Vanvitelli"

Napoli, Italy, 80138, Italy

Location

Related Publications (10)

• Associazione Italiana Ematologia Oncologia Pediatrica. Raccomandazioni per il trattamento della Drepanocitosi in Italia. 2018.

  BACKGROUND

• Colombatti R, Martella M, Cattaneo L, Viola G, Cappellari A, Bergamo C, Azzena S, Schiavon S, Baraldi E, Dalla Barba B, Trafojer U, Corti P, Uggeri M, Tagliabue PE, Zorloni C, Bracchi M, Biondi A, Basso G, Masera N, Sainati L. Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action. Pediatr Blood Cancer. 2019 May;66(5):e27657. doi: 10.1002/pbc.27657. Epub 2019 Feb 5.

  PMID: 30724025 BACKGROUND

• Desselas E, Thuret I, Kaguelidou F, Benkerrou M, de Montalembert M, Odievre MH, Lesprit E, Rumpler E, Fontanet A, Pondarre C, Brousse V. Mortality in children with sickle cell disease in mainland France from 2000 to 2015. Haematologica. 2020 Sep 1;105(9):e440-443. doi: 10.3324/haematol.2019.237602. No abstract available.

  PMID: 33054059 BACKGROUND

• Serjeant GR, Chin N, Asnani MR, Serjeant BE, Mason KP, Hambleton IR, Knight-Madden JM. Causes of death and early life determinants of survival in homozygous sickle cell disease: The Jamaican cohort study from birth. PLoS One. 2018 Mar 1;13(3):e0192710. doi: 10.1371/journal.pone.0192710. eCollection 2018.

  PMID: 29494636 BACKGROUND

• Shet AS, Lizarralde-Iragorri MA, Naik RP. The molecular basis for the prothrombotic state in sickle cell disease. Haematologica. 2020 Oct 1;105(10):2368-2379. doi: 10.3324/haematol.2019.239350.

  PMID: 33054077 BACKGROUND

• Casale M, Scianguetta S, Palma T, Pinfildi L, Vallefuoco G, Capellupo MC, Roberti D, Perrotta S. Screening for sickle cell disease by point-of-care tests in Italy: pilot study on 1000 at risk children. Eur J Pediatr. 2025 Jan 28;184(2):157. doi: 10.1007/s00431-025-05988-y.

  PMID: 39875760 BACKGROUND

• National Institutes of Health National Heart, Lung, and Blood Institute. Division of Blood Diseases and Resources. The Management of Sickle Cell Disease. NIH PUBLICATION NO. 02-2117. 2008.

  BACKGROUND

• McGann PT, Schaefer BA, Paniagua M, Howard TA, Ware RE. Characteristics of a rapid, point-of-care lateral flow immunoassay for the diagnosis of sickle cell disease. Am J Hematol. 2016 Feb;91(2):205-10. doi: 10.1002/ajh.24232. Epub 2015 Nov 26.

  PMID: 26537622 BACKGROUND

• Kanter J, Telen MJ, Hoppe C, Roberts CL, Kim JS, Yang X. Validation of a novel point of care testing device for sickle cell disease. BMC Med. 2015 Sep 16;13:225. doi: 10.1186/s12916-015-0473-6.

  PMID: 26377572 BACKGROUND

• Darbari DS, Sheehan VA, Ballas SK. The vaso-occlusive pain crisis in sickle cell disease: Definition, pathophysiology, and management. Eur J Haematol. 2020 Sep;105(3):237-246. doi: 10.1111/ejh.13430. Epub 2020 May 19.

  PMID: 32301178 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

peripheral blood

Study Officials

• Maddalena Casale, Professor

  University of Campania Luigi Vanvitelli

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Maddalena Casale, Professor

CONTACT

+390815665432; maddalena.casale@unicampania.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Associate Professor in Pediatrics

Study Record Dates

• First Submitted: May 28, 2025
• First Posted: June 8, 2025
• Study Start: June 1, 2025
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): September 1, 2027
• Last Updated: June 8, 2025

Record last verified: 2025-06

Locations

IT (1)