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Integrative Diagnosis for SCD and Other RADs

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About this study

INTEGRA aims at enabling personalized medicine for RHADs patients by the establishment of an integrative diagnostic approach based on deep phenotypic and genetic characterization through combining new generation methodologies.

Condition
Sickle Cell Disease, Thalassaemia, Congenital Dyserythropoietic Anemia (CDA), Enzyme Disorder; Anemia, Spherocytosis, Hereditary, Stomatocytosis, Hemoglobin Disorder, Anemia Due to Membrane Defect, Rare Anemia Disorders
Tested
Analysis of genetic modifiers, Disease phenotyping
Sponsor
Hospital Universitari Vall d'Hebron Research Institute

Who can join

Age
Not specified
Sex
All sexes
Healthy volunteers
Not accepted

Inclusion 14

  • Study condition: Sickle Cell Disease, Thalassaemia, Congenital Dyserythropoietic Anemia (CDA), Enzyme Disorder; Anemia, Spherocytosis, Hereditary, Stomatocytosis, Hemoglobin Disorder, Anemia Due to Membrane Defect, Rare Anemia Disorders
  • Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia:
  • Sickle cell disease
  • Thalassemic syndromes
  • Congenital dyserythropoietic anemia
  • Enzymopathy
  • Unstable Hemoblogin / Altered oxygen affinity
  • Hereditary stomatocytosis
  • Hereditary pyropoikilocytosis
  • Hereditary spherocytosis with severe anemia (\<8 g/dL) or inconclusive diagnosis:
  • Patient with chronic hemolytic anemia and red cell smear compatible, but with:
  • EMA binding test: inconclusive or negative
  • Genetic testing: no definitive diagnosis (VUS or no findings)
  • Not transplanted or undergoing gene therapy at the time of inclusion. Patients with graft failure without a new transplant may be included.

Exclusion 1

  • Carrier traits in autosomal recessive hereditary anemias

Where

9 sites, 9 recruiting

Hospital de la Santa Creu i Sant Pau

Barcelona, Barcelona, Spain

Recruiting

Hospital Universitari Vall d'Hebron

Barcelona, Barcelona, Spain

Recruiting

Hospital Sant Joan de Déu

Esplugues de Llobregat, Barcelona, Spain

Recruiting

Hospital General de Granollers

Granollers, Barcelona, Spain

Recruiting

Hospital Universitari Arnau de Vilanova

Lleida, Lleida, Spain

Recruiting

Consorci Sanitari del Maresme - Hospital de Mataró

Mataró, Barcelona, Spain

Recruiting

and 3 more sites on ClinicalTrials.gov

Contact

Potential match only. Final eligibility is determined by the study team.