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Registry for Sickle Cell Diseases, 1.registration form - Sichel-Reg, 1. Meldebogen

- 17/09/2021 - 1 Formulaire, 7 Groupes Item, 38 Eléments de données, 2 Langues
Groupes Item: Patient data, Treating Clinic, General practitioner, Patient Characteristics, Professional career, Comments, Signature
Registerzentrale: Dr. Dickerhoff / Dr. Potthoff, Klinik für Kinder-Onkologie, -Hämatologie und Klinische Immunologie, Universitätsklinikum Düsseldorf

dbGaP phs001212 NextGen Consortium: Globin Gene Expression in Sickle Cell Genotype-Specific iPS Cells - Eligibility

- 17/05/2023 - 5 Formulaires, 1 Groupe Item, 1 Élément de données, 1 Langue
Groupe Item: IG.elig
Principal Investigator: Martin H. Steinberg, Boston University School of Medicine, Boston, MA, USA MeSH: Anemia, Sickle Cell,Fetal Hemoglobin https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001212 - Implement an efficient, highly reproducible and 'scalable' system for the production of large numbers of sickle cell anemia-specific iPS cells (iPSC). - Derive and characterize a novel, in vitro system for the production of an unlimited supply of erythroid lineage cells from the directed differentiation of 'clinical grade' transgene-free iPS cells; use this system to recapitulate erythroid-lineage ontogeny in vitro with the sequential development of primitive and definitive erythropoiesis, accompanied by the appropriate expression of stage-specific globin genes. - Identify developmental gene expression profile differences between erythroid precursors that produce primarily HbF and those that produce primarily HbA or HbS. - Determine the effects of the three known HbF major quantitative trait loci (QTL) on globin gene expression in disease-specific iPS cells during in vitro erythropoiesis. - Search for novel HbF genetic modifiers associated with markedly elevated HbF levels found in sickle cell anemia patients naturally, or in response to hydroxyurea treatment, by examining gene expression profiles and mRNA sequence of their iPSC-derived erythroid cells. - Develop and use a CRISPR-based gene editing platform to study the effect of novel HbF genetic modifiers, explore globin switching, and correct the HbS mutation in sickle iPSC lines.

pht006562.v1.p1

1 Groupe Item 5 Eléments de données

pht006563.v1.p1

1 Groupe Item 5 Eléments de données

pht006564.v1.p1

1 Groupe Item 6 Eléments de données

pht006565.v1.p1

1 Groupe Item 7 Eléments de données

dbGaP phs000691 CIP: Differential Response to Hydroxyurea and Incidence of Stroke in Sickle Cell Disease - pht003651.v2.p1

- 13/01/2023 - 6 Formulaires, 1 Groupe Item, 5 Eléments de données, 1 Langue
Groupe Item: pht003651
Principal Investigator: Richard A. Gibbs, PhD, Baylor College of Medicine, Houston, TX, USA MeSH: Anemia, Sickle Cell https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000691 Sickle cell disease (SCD) is a severe debilitating hematological disorder associated with a high degree of morbidity and mortality. There are approximately 200,000 babies born with sickle cell disease each year, with the disease predominately affecting individuals in Africa. The overall global burden of the disease is tremendous, with more than 100,000 patients currently in the US and further millions worldwide. The governing bodies of the World Health Organization have recently adopted a resolution to strengthen the response to sickle disease in all affected countries and there is a definite need for high quality sickle cell disease research that has the potential to improve the treatment and prognosis of patients with this devastating disease. The clinical manifestations of SCD arise from a complex pathophysiology that includes hemolysis, acute vaso-occlusion, endothelial dysfunction, inflammation, and chronic organ damage. While the individual clinical course of this disease is highly variable, many of the associated complications demonstrate some degree of heritability. Intensive research into identifying genetic modifiers that can affect the pathophysiology of SCD has been limited to date and there is an urgent need to improve of our knowledge the molecular mechanisms underlying the clinical complications of SCD. The Sickle cell CIP project is investigating complication of stroke and pharmacogenomics of hydroxyurea response in patients with sickle cell anemia. The major benefit of hydroxyurea comes from its ability to induce fetal hemoglobin (HbF) and higher HbF levels are associated with reduced morbidity and mortality in SCA patients. We will perform whole exome and whole genome sequencing of SCA patients in order to identify genome variants associated with incidences of stroke and HbF response to hydroxyurea.

pht003652.v2.p1

1 Groupe Item 5 Eléments de données

pht003653.v1.p1

1 Groupe Item 7 Eléments de données

pht003653.v2.p1

1 Groupe Item 7 Eléments de données

pht003654.v2.p1

1 Groupe Item 3 Eléments de données

Eligibility

1 Groupe Item 2 Eléments de données

Registry for Sickle Cell Diseases, 2.initial assessment - Sichel-Reg, 2. Ersterhebung

- 20/09/2021 - 1 Formulaire, 13 Groupes Item, 105 Eléments de données, 2 Langues
Groupes Item: Patient data, Familiy history, Diagnosis, Events before registration, Vaccinations, Medication, clinical examination, Lab, Transabdominal Ultrasound, Cardiological test status, Eye examination, Comments, Signature
Registerzentrale: Dr. Dickerhoff / Dr. Potthoff, Klinik für Kinder-Onkologie, -Hämatologie und Klinische Immunologie, Universitätsklinikum Düsseldorf

Follow-Up Registry for Sickle Cell Diseases

- 20/09/2021 - 1 Formulaire, 25 Groupes Item, 145 Eléments de données, 2 Langues
Groupes Item: Patient data, Treating Clinic, General practitioner, Career path, Follow-up status, Pain crisis, Spleen sequestration, Bacterial Infections (confirmed), Cholelithiasis, Aplastic crisis, Cerebral infarction, Bone Diseases, Lower leg ulcera, Urological complications, Acute thoracic syndrome, Transfusions, Other, Medication, Clinical examination, Lab values, Transabdominal Ultrasound, Cardiological test status, Eye examination, Information needs and comments, Signature
Register für Sichelzellerkrankungen Sichel-Reg, 3. Verlaufsdokumentation Registerzentrale: Dr. Dickerhoff / Dr. Potthoff, Klinik für Kinder-Onkologie, -Hämatologie und Klinische Immunologie, Universitätsklinikum Düsseldorf

Registry for Sickle Cell Diseases, 7.consent blood samples - Sichel-Reg, 7. Einverständniserklärung zur Asservierung einer Blutprobe und Durchführung molekulargenetischer Untersuchungen

- 23/09/2014 - 1 Formulaire, 1 Groupe Item, 17 Eléments de données, 2 Langues
Groupe Item: Informed consent
Registerzentrale: Dr. Dickerhoff / Dr. Potthoff, Klinik für Kinder-Onkologie, -Hämatologie und Klinische Immunologie, Universitätsklinikum Düsseldorf

Registry for Sickle Cell Diseases, 6.consent - Sichel-Reg, 6. Einverständniserklärung zur Aufnahme in das Register für Sichelzellerkrankungen

- 23/09/2014 - 1 Formulaire, 1 Groupe Item, 17 Eléments de données, 2 Langues
Groupe Item: Informed consent
Registerzentrale: Dr. Dickerhoff / Dr. Potthoff, Klinik für Kinder-Onkologie, -Hämatologie und Klinische Immunologie, Universitätsklinikum Düsseldorf

Registry for Sickle Cell Diseases, 4.info sheet - Sichel-Reg, 4. Informationsblatt für Patienten, Eltern / Sorgeberechtigte und Jugendliche ab 16 Jahren

- 23/09/2014 - 1 Formulaire, 1 Groupe Item, 6 Eléments de données, 2 Langues
Groupe Item: Patient information
Registerzentrale: Dr. Dickerhoff / Dr. Potthoff, Klinik für Kinder-Onkologie, -Hämatologie und Klinische Immunologie, Universitätsklinikum Düsseldorf

Registry for Sickle Cell Diseases, 5.info sheet age 10-15 - Sichel-Reg, 5. Informationsblatt für Kinder von 10 bis 15 Jahren

- 23/09/2014 - 1 Formulaire, 1 Groupe Item, 6 Eléments de données, 2 Langues
Groupe Item: Patient information sheet
Registerzentrale: Dr. Dickerhoff / Dr. Potthoff, Klinik für Kinder-Onkologie, -Hämatologie und Klinische Immunologie, Universitätsklinikum Düsseldorf

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