Clinical trial NCT03327428: Sickle-cell Disease Registry of the GPOH
Official title: Register Sichelzellkrankheit Der GPOH
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Sickle Cell Disease
Keywords: Anemia, Sickle Cell
Sickle Cell disease
Lead sponsor: University Hospital Heidelberg
Sponsor class: OTHER
Collaborators: name: GPOH Consortium Sickle Cell Disease
name: Johann Wolfgang Goethe University Hospital
name: Universitätsklinikum Hamburg-Eppendorf
name: University Hospital Ulm
name: Charite University, Berlin, Germany
name: German Cancer Research Center
name: Deutsche Kinderkrebsstiftung
name: Pfizer
First posted: 2017-10-31
Enrollment: 1000
Sex: ALL
Minimum age (years): 0
Maximum age (years): 100
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All patients with sickle cell disease being treated at participating centers that signed the informed consent form.

Brief summary: Sickle cell disease is one of the most common hereditary diseases. Most severe complications can be avoided if the disease is detected early and treated appropriately.

The sickle cell disease registry of the Society for Paediatric Oncology/Haematology aims at describing the epidemiology of sickle cell disease in German-speaking central Europe. Patients with sickle cell disease will be characterized clinically and genetically and treatment will be documented with the aim to find predictors of the course of disease.

In addition, the registry results should provide a solid evidence base to incorporate sickle cell disease into routine newborn screening and to update the national guidelines for the management of patients suffering from sickle cell disease in Germany.

A consortium of five university hospitals (Berlin, Frankfurt, Hamburg, Heidelberg, Ulm) has been mandated by the Society for Paediatric Oncology/Haematology to implement this registry.

The number of participating centers is constantly increasing and new centers that take care of either pediatric or adult patients with sickle cell disease are encouraged to support the registry.

For further information please refer to: http://www.sichelzellkrankheit.info/


Eligibility criteria: Inclusion Criteria:

* signed informed consent
* current residency in either Germany, Austria or Switzerland
* sickle cell disease confirmed by hemoglobin analysis or molecular genetic analysis

  * Homozygous sickle cell disease (HbSS)
  * HbSC disease
  * Sickle cell disease HbS / bThal
  * Other, rare sickle cell syndromes such as HbS/OArab, HbS/HPFH, HbS/E, HbS/D Punjab, HbS/C Harlem, HbC/S Antilles, HbS/Quebec-CHORI, HbA/S Oman, HbA/Jamaica Plain

Exclusion Criteria:

- isolated heterozygous trait for HbS

Primary outcomes:
measure: Change in incidence of sickle-cell disease
timeFrame: Baseline and yearly, up to 10 years
Secondary outcomes:
measure: Complications of sickle-cell disease
timeFrame: Baseline and yearly, up to 10 years
measure: Treatment of sickle-cell disease
timeFrame: Baseline and yearly, up to 10 years
Other outcomes:
Locations:
city: Heidelberg
country: Germany
facility: Center for Child and Adolescent Medicine, University Medical Center Heidelberg
state: BW
Study officials:
affiliation: Center for Child and Adolescent Medicine, University Medical Center Heidelberg
name: Joachim Kunz, Dr.
role: PRINCIPAL_INVESTIGATOR
affiliation: University Hospital Ulm
name: Holger Cario, Prof. Dr.
name: Regine Grosse, Dr.
affiliation: Johann Wolfgang Goethe University Hospital
name: Andrea Jarisch, Dr.
affiliation: University Hospital Heidelberg
name: Andreas Kulozik, Prof. Dr.
affiliation: Gemeinschaftsklinikum Mittelrhein, Koblenz
name: Stephan Lobitz, Dr. MSc
affiliation: Charite University, Berlin, Germany
name: Lena Oevermann
References:
citation: Lobitz S. Neugeborenenscreening auf Sichelzellkrankheiten in Deutschland. Kinder- und Jugendmedizin 2017;17(2):82-86 [German]
citation: Kunz JB, Cario H, Grosse R, Jarisch A, Lobitz S, Kulozik AE. The epidemiology of sickle cell disease in Germany following recent large-scale immigration. Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26550. Epub 2017 Apr 6.
citation: Kunz JB, Awad S, Happich M, Muckenthaler L, Lindner M, Gramer G, Okun JG, Hoffmann GF, Bruckner T, Muckenthaler MU, Kulozik AE. Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening. Ann Hematol. 2016 Feb;95(3):397-402. doi: 10.1007/s00277-015-2573-y. Epub 2015 Dec 12.
citation: Grosse R, Lukacs Z, Cobos PN, Oyen F, Ehmen C, Muntau B, Timmann C, Noack B. The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area). Pediatr Blood Cancer. 2016 Jan;63(1):168-70. doi: 10.1002/pbc.25706. Epub 2015 Aug 14.
citation: Frommel C, Brose A, Klein J, Blankenstein O, Lobitz S. Newborn screening for sickle cell disease: technical and legal aspects of a German pilot study with 38,220 participants. Biomed Res Int. 2014;2014:695828. doi: 10.1155/2014/695828. Epub 2014 Jul 23.
citation: Lobitz S, Frommel C, Brose A, Klein J, Blankenstein O. Incidence of sickle cell disease in an unselected cohort of neonates born in Berlin, Germany. Eur J Hum Genet. 2014 Aug;22(8):1051-3. doi: 10.1038/ejhg.2013.286. Epub 2014 Jan 8.
citation: Kunz JB, Lobitz S, Grosse R, Oevermann L, Hakimeh D, Jarisch A, Cario H, Beier R, Schenk D, Schneider D, Gross-Wieltsch U, Prokop A, Heine S, Khurana C, Erlacher M, Durken M, Linke C, Fruhwald M, Corbacioglu S, Claviez A, Metzler M, Ebinger M, Full H, Wiesel T, Eberl W, Reinhard H, Tagliaferri L, Allard P, Karapanagiotou-Schenkel I, Rother LM, Beck D, Le Cornet L, Kulozik AE; German Sickle Cell Disease Registry. Sickle cell disease in Germany: Results from a national registry. Pediatr Blood Cancer. 2020 Apr;67(4):e28130. doi: 10.1002/pbc.28130. Epub 2019 Dec 22.
citation: Kunz JB, Schlotmann A, Daubenbuchel A, Lobitz S, Jarisch A, Grosse R, Cario H, Oevermann L, Hakimeh D, Tagliaferri L, Kulozik AE. Benefits of a Disease Management Program for Sickle Cell Disease in Germany 2011-2019: The Increased Use of Hydroxyurea Correlates with a Reduced Frequency of Acute Chest Syndrome. J Clin Med. 2021 Sep 30;10(19):4543. doi: 10.3390/jcm10194543.
citation: Allard P, Alhaj N, Lobitz S, Cario H, Jarisch A, Grosse R, Oevermann L, Hakimeh D, Tagliaferri L, Kohne E, Kopp-Schneider A, Kulozik AE, Kunz JB. Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea. Haematologica. 2022 Jul 1;107(7):1577-1588. doi: 10.3324/haematol.2021.278952.