Creation of a study team to conduct an SMA 1-clinical trial at the Centre for Neuromuscular Diseases of the University Children's Hospital Basel (UKBB)
Dr. med. Andrea Klein, Univesitäts-Kinderspital beider Basel (UKBB)
Abstract (Lay summary see below)
Facilitation of trial participation for Swiss patients in Switzerland has been our aim for the last 10 years. The creation of a well-functioning registry has helped to include patients in studies in Switzerland and abroad (Paris, Freiburg i.B.). Large multinational studies have most often not had a study site in Switzerland because of high costs, complicated extra regulatory hurdles for few extra patients, not enough trial experience in the centers.
I have been approached by a pharmaceutical company to conduct a Phase 1 / 2 study in infants with spinal muscular atrophy type 1 (SMA1) as a principal investigator at the UKBB. This devastating disease is very rare and until very recently these patients were treated with palliative care and often died before the age of 1 year. Diagnosis is usually made at the age of 4-6 months. Patients can be included if <7 months old. This leaves only few weeks between the diagnosis and the possible inclusion into the trial. The rarity and short time between diagnosis and possible inclusion into the study makes planning ahead impossible. Therefore, the trial team needs to be ready even if there is no diagnosed patient. The study is very intense with strictly scheduled patient visits every 2-4 weeks with additional home visits. These infants are very sick and fragile and complications will be frequent. The pharmaceutical company covers costs per included patient, but not for trial readiness.
At the UKBB there is an outpatient trial center; Prof. Dirk Fischer at the UKBB, an adult neurologist, has experience with several studies in Duchenne and one in older SMA patients. He has a team of adult neurologists with trial experience and a study coordinator who are available as a resource for the planned SMA1 study. To conduct this trial an additional pediatric neurologist /experienced pediatrician has to be recruited. This person needs to be employed as soon as the study site is opened to be ready to include a patient as soon as the diagnosis is made.
Lay summary
Klinische Studien in der Schweiz zu ermöglichen und damit die Teilnahme von Schweizer Patienten an klinischen Studien zu erleichtern ist seit Jahren das Ziel. Um das zu erreichen wurde das Register für Spinale Muskelatrophie und Muskeldystrophie Duchenne aufgebaut. Durch das Register konnten bereits viele Schweizer Patienten an Studien teilnehmen, aber hauptsächlich im Ausland. Die Gründe dafür, dass viele grosse Studien kein Studienzentrum in der Schweiz haben sind die höheren Kosten im Vergleich zu den Nachbarländern, zusätzliche regulatorische Hürden für vergleichsweise kleine Patientenzahlen sowie mangelnde Studienerfahrung.
Um die grossen Pharmastudien durchführen zu können braucht es ein Studienteam von in Studiendurchführung ausgebildeten Ärzten, Physiotherapeutinnen, Koordinatorinnen und speziell ausgebildetes Pflegepersonal. Neuropädiater mit Erfahrung in dem Spezialgebiet der neuromuskulären Erkrankungen gibt es in der Schweiz nur sehr wenige, noch weniger mit Studienerfahrung. Es herrscht Nachwuchsmangel sowohl in der allgemeine Neuropädiatrie aber noch viel mehr im komplexen, sich rasch weiter entwickelnden Gebiet der neuromuskulären Erkrankungen. Es gibt nur wenige Ausbildungsstellen in Neuropädiatrie und die Ärzte sind ausgelastet mit klinischer Arbeit und sehen selten Kinder mit neuromuskulären Krankheiten.
Die vorgesehen Studie ist für Patienten mit Spinaler Muskelatrophie Typ 1, einer Erkrankung die in den ersten 6 Lebensmonaten auftritt und sehr rasch progredient ist. Die Erkrankung ist sehr selten und zwischen Diagnosestellung und möglichem Studieneinschluss gibt es nur sehr wenig Zeit, was eine Vorausplanung unmöglich macht. Eine pädiatrisch und neuropädiatrisch ausgebildete Studienärztin muss also bereit sein, um die plötzliche erhebliche Mehrarbeit leisten zu können. Mit der Unterstützung der FSRMM ist es nun möglich eine junge interessierte Studienärztin zu 20% anzustellen, die bis zum Einschluss eines Patienten und während der Studiendurchführung ausgebildet werden kann. Die Arbeit, die für die Studienpatienten anfällt wird von der Firma, die die Studie sponsert bezahlt. So ist es mit der Unterstützung der FSRMM möglich ein Studienteam mit neuropädiatrischer Expertise aufzubauen, was hoffentlich die Schweiz als Studienzentrum für weitere grosse Pharma gesponserte Studien attraktiver macht. Als Nebeneffekt unterstützt es die Suche nach Nachwuchs im Bereich der pädiatrischen Neuromuskulären Erkrankungen.
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