Clinical Trials & Research Studies

 

VASCERN aims to promote European cooperation for scientific research and clinical trials. We collect information within the Rare Disease Working Groups (RDWGs) about clinical trials and research projects currently  ongoing and perform regular bibliographical searches in order to report on collaborative research publications involving members from our 30 HCPs.

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Work Package 6 Deliverable – Clinical Trials and Research studies (Year 1)

Work Package 6 Deliverable  – Clinical trials and Research (Year 2)

We now also have a Research News page where you can access articles featuring the latest collaborative scientific publications from our members that have been reported in our monthly newsletter. Take a look here.

  • Year 1 Collaborative Publications

Executive summary of the 12th HHT international scientific conference.Andrejecsk JW, Hosman AE, Botella LM, Shovlin CL, Arthur HM, Dupuis-Girod S, Buscarini E, Hughes CCW, Lebrin F, Mummery CL, Post MC, Mager JJ. Angiogenesis.2017 Nov 16.doi: 10.1007/s10456-017-9585-2. [Epub ahead of print] PMID: 29147802

Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts. Shovlin CL, Buscarini E, Hughes JMB, Allison DJ, Jackson JE. BMJ Open Respir Res. 2017 Oct 13;4(1):e000198. doi: 10.1136/bmjresp-2017-000198. eCollection 2017.PMID: 29071074

The Lung in Hereditary Hemorrhagic Telangiectasia. Dupuis-Girod S, Cottin V, Shovlin CL. Respiration. 2017;94(4):315-330. doi: 10.1159/000479632. Epub 2017 Aug 30. PMID: 28850955

Response to Bevacizumab for the treatment of Rendu-Osler disease-A note of caution.Dupuis-Girod S, Buscarini E.Liver Int. 2017 Jun;37(6):928. doi: 10.1111/liv.13385. No abstract available. PMID: 28544692

  • Year 2 Collaborative Publications

Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia. Buscarini E, Botella LM, Geisthoff U, Kjeldsen AD, Mager HJ, Pagella F, Suppressa P, Zarrabeitia R, Dupuis-Girod S, Shovlin CL; VASCERN-HHT. Orphanet J Rare Dis. 2019 Feb 4;14(1):28. doi: 10.1186/s13023-018-0982-4. PMID: 30717761 Orphanet J Rare Dis. 2018 Aug 15;13(1):136. doi: 10.1186/s13023-018-0850-2.

European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT). Shovlin CL1,2, Buscarini E3, Kjeldsen AD4, Mager HJ5, Sabba C6, Droege F7, Geisthoff U7,8, Ugolini S9, Dupuis-Girod S10,11. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791.

Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination. Shovlin C1, Bamford K2, Sabbà C3, Mager HJ4, Kjeldsen A5, Droege F6, Buscarini E7, Dupuis-Girod S8; VASCERN HHT. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791. No abstract available.

  • Year 3-4 Collaborative Publications

Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia. Shovlin CL, Millar CM, Droege F, Kjeldsen A, Manfredi G, Suppressa P, Ugolini S, Coote N, Fialla AD, Geisthoff U, Lenato GM, Mager HJ, Pagella F, Post MC, Sabbà C, Sure U, Torring PM, Dupuis-Girod S, Buscarini E; VASCERN-HHT. Orphanet J Rare Dis. 2019 Aug 28;14(1):210. doi: 10.1186/s13023-019-1179-1.

European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT). Eker OF, Boccardi E, Sure U, Patel MC, Alicante S, Alsafi A, Coote N, Droege F, Dupuis O, Fialla AD, Jones B, Kariholu U, Kjeldsen AD, Lefroy D, Lenato GM, Mager HJ, Manfredi G, Nielsen TH, Pagella F, Post MC, Rennie C, Sabbà C, Suppressa P, Toerring PM, Ugolini S, Buscarini E, Dupuis-Girod S, Shovlin CL. Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9. PMID: 32600364

  • Year 1: Collaborative Publications

Arterial tortuosity syndrome: 40 new families and literature review.Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, CallewaertB.Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print] PMID: 29323665

Pregnancy in Women With SMAD3 Mutation.van Hagen IM, van der Linde D, van de Laar IM, MuiñoMosquera L, De Backer J, Roos-Hesselink JW. J Am CollCardiol. 2017 Mar 14;69(10):1356-1358. doi: 10.1016/j.jacc.2016.12.029. No abstract available. PMID: 28279300

Organisation of care for pregnancy in patients with congenital heart disease. Roos-Hesselink JW1, Budts W2, Walker F3, De Backer JFA4, Swan L5, Stones W6,7, Kranke P8,9, Sliwa-Hahnle K10,11, Johnson MR12. Heart. 2017 Dec;103(23):1854-1859. doi: 10.1136/heartjnl-2017-311758. Epub 2017 Jul 24. PMID: 28739807

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C.J Med Genet. 2017 Feb;54(2):100-103. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31. PMID: 27582083

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3. Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. Hum Mutat. 2018 Feb 1. doi: 10.1002/humu.23407. [Epub ahead of print]

  • Year 2 : Collaboarative  Publications

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM.J Med Genet. 2019 Jan 19. pii: jmedgenet-2018-105583. doi: 10.1136/jmedgenet-2018-105583. [Epub ahead of print] PMID: 30661052

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era. Benke K, Ágg B, Meienberg J, Kopps AM, Fattorini N, Stengl R, Daradics N, Pólos M, Bors A, Radovits T, Merkely B, De Backer J, Szabolcs Z, Mátyás G.J Thorac Dis. 2018 Apr;10(4):2456-2460. doi: 10.21037/jtd.2018.04.40. PMID: 29850152

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089.PMID: 30071989

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA. Int J Cardiol. 2018 May 1;258:243-248. doi: 10.1016/j.ijcard.2018.01.145. Epub 2018 Feb 7. Review. PMID: 29452988

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A.Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12.

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B.J Med Genet. 2018 Jul 2. pii: jmedgenet-2018-105304. doi: 10.1136/jmedgenet-2018-105304. [Epub ahead of print]PMID: 29967133

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6. PMID: 29392890

  • Year 3-4 Collaborative Publications

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM.J Med Genet. 2019 Jan 19. pii: jmedgenet-2018-105583. doi: 10.1136/jmedgenet-2018-105583. [Epub ahead of print] PMID: 30661052 –vascern not mentioned

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.Luyckx I, MacCarrick G, Kempers M, Meester J, Geryl C, Rombouts O, Peeters N, Claes C, Boeckx N, Sakalihasan N, Jacquinet A, Hoischen A, Vandeweyer G, Van Lent S, Saenen J, Van Craenenbroeck E, Timmermans J, Duijnhouwer A, Dietz H, Van Laer L, Loeys B, Verstraeten A.Eur J Hum Genet. 2019 Feb 22. doi: 10.1038/s41431-019-0363-z. [Epub ahead of print]PMID: 30796334 – vascern not mentioned

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.Luyckx I, Kumar AA, Reyniers E, Dekeyser E, Vanderstraeten K, Vandeweyer G, Wünnemann F, Preuss C, Mazzella JM, Goudot G, Messas E, Albuisson J, Jeunemaitre X, Eriksson P, Mohamed SA, Kempers M, Salemink S, Duijnhouwer A, Andelfinger G, Dietz HC, Verstraeten A, Van Laer L, Loeys BL; MIBAVA Leducq Consortium.Eur J Hum Genet. 2019 Feb 28. doi: 10.1038/s41431-019-0364-y. [Epub ahead of print]PMID: 30820038

Eur Heart J. 2019 Mar 25. pii: ehz136. doi: 10.1093/eurheartj/ehz136. [Epub ahead of print] Pregnancy outcomes in women with cardiovascular disease: evolving trends over 10 years in the ESC Registry Of Pregnancy And Cardiac disease (ROPAC).Roos-Hesselink J1,2, Baris L1, Johnson M3, De Backer J4, Otto C5, Marelli A6, Jondeau G7, Budts W8, Grewal J9, Sliwa K10, Parsonage W11, Maggioni AP2,12, van Hagen I1, Vahanian A2,7, Tavazzi L13, Elkayam U14, Boersma E1, Hall R15.

Eur J Prev Cardiol. 2019 Jun 11:2047487319854552. doi: 10.1177/2047487319854552. [Epub ahead of print] Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. De Backer J1,2, Bondue A3, Budts W4,5, Evangelista A2,6, Gallego P7, Jondeau G2,8, Loeys B2,9,10, Peña ML7, Teixido-Tura G2,6, van de Laar I2,11, Verstraeten A9,10, Roos Hesselink J2,12

Curr Opin Cardiol. 2019 Aug 7. doi: 10.1097/HCO.0000000000000669. [Epub ahead of print]Genetic testing for aortopathies: primer for the nongeneticist. De Backer J1,2, Jondeau G3,2, Boileau C3,4,5.

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. van de Laar IMBH, Arbustini E, Loeys B, Björck E, Murphy L, Groenink M, Kempers M, Timmermans J, Roos-Hesselink J, Benke K, Pepe G, Mulder B, Szabolcs Z, Teixidó-Turà G, Robert L, Emmanuel Y, Evangelista A, Pini A, von Kodolitsch Y, Jondeau G, De Backer J.Orphanet J Rare Dis. 2019 Nov 21;14(1):264. doi: 10.1186/s13023-019-1186-2.PMID: 31752940 Free PMC Article –

J Clin Med. 2019 Nov 29;8(12). pii: E2079. doi: 10.3390/jcm8122079. Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome. Mühlstädt K1, De Backer J2,3, von Kodolitsch Y1, Kutsche K4, Muiño Mosquera L2, Brickwedel J1, Girdauskas E1, Mir TS1, Mahlmann A5, Tsilimparis N1, Staebler A6, Schoof L1, Seidel H7, Berger J8, Bernhardt AM1, Blankenberg S1, Kölbel T1, Detter C1, Szöcs K1, Kaemmerer H9.

Features of Marfan syndrome not listed in the Ghent nosology – The Dark Side of the Disease. von Kodolitsch Y, Demolder A, Girdauskas E, Kaemmerer H, Kornhuber K, Muino Mosquera L, Morris S, Neptune E, Pyeritz R, Rand-Hendriksen S, Rahman A, Riise N, Robert L, Staufenbiel I, Szöcs K, Vanem TT, Linke SJ, Vogler M, Yetman A, De Backer J.Expert Rev Cardiovasc Ther. 2019 Dec 12. doi: 10.1080/14779072.2019.1704625. [Epub ahead of print]PMID: 31829751

  • Year 1: Collaborative Publications

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.Byers PH, Belmont J, Black J, De Backer J, Frank MJeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N.Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Review. PMID: 28306228

 

The 2017 international classification of the Ehlers-Danlos syndromes.Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B.Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.PMID: 28306229

 

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC.Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4.PMID: 27582382

 

  • Year 2 : Collaborative Publications 

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X. Genet Med. 2018 Nov 26. doi: 10.1038/s41436-018-0356-2. [Epub ahead of print] PMID: 30474650

  • Year 2 : Collaborative Publications 

No collaborative publications from the PPL-WG between March 2018-February 2019.

  • Year 3-4 : Collaborative Publications 

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis. Gordon K, Varney R, Keeley V, Riches K, Jeffery S, Van Zanten M, Mortimer P, Ostergaard P, Mansour S.J Med Genet. 2020 May 14:jmedgenet-2019-106084. doi: 10.1136/jmedgenet-2019-106084. Online ahead of print.PMID: 32409509

Multicentre clinical trials:

The VASCA-WG currently has one clinical trial underway: The VASE (Vascular Anomaly-Sirolimus Europe) is phase III multicentric study evaluating the efficacy and safety of sirolimus in Vascular Anomalies that are refractory to standard care.

  • Year 1: Collaborative Publications

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M. J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9. PMID:27519652

Development of an international core outcome set for peripheral vascular malformations: the OVAMA project. Horbach SER, van der Horst CMAM, Blei F, van der Vleuten CJM, Frieden IJ, Richter GT, Tan ST, Muir T, Penington AJ, Boon LM, Spuls PI; OVAMA Consensus Group Br J Dermatol. 2017 Oct 7. doi: 10.1111/bjd.16029. [Epub ahead of print] PMID: 28986976

  • Year 2 : Collaborative Publications 

No collaborative publications from the VASCA-WG between March 2018-February 2019.

  • Year 3-4 Collaborative Publications:

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula M. J Med Genet. 2019 Jul 12. pii: jmedgenet-2019-106024. doi: 10.1136/jmedgenet-2019-106024. [Epub ahead of print] PMID:31300548

A Clinical Feasibility Study To Image Angiogenesis in Patients With Arteriovenous Malformations Using 68Ga-RGD PET/CT. Lobeek D, Bouwman FCM, Aarntzen EHJG, Molkenboer-Kuenen JDM, Flucke UE, Nguyen HL, Vikkula M, Boon LM, Klein W, Laverman P, Oyen WJG, Boerman OC, Terry SYA, SchultzeKool LJ, Rijpkema M.J Nucl Med. 2019 Sep 13. pii: jnumed.119.231167. doi: 10.2967/jnumed.119.231167. [Epub ahead of print]

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