Successful Launch of the Observation Study on Nusinersen Applied in Adult SMA Patients

The study on Nusinersen is a nation-wide, systematic patient interview conducted with 100 patients with Spinal Muscular Atrophy (SMA) with the objective of gaining important new insights into the efficacy of Nusinersen treatment in adults.

The Drug Nusinersen

In 2017, the drug Nusinersen (brand name Spinraza®) was approved in Europe for the treatment of SMA based on two clinical studies with children (CHERISH and ENDEAR studies). The genetic form of SMA is a result of a mutation in the SMN1 gene which plays a major role in the development and preservation of motor function. As adults with SMA could not be considered in these studies for marketing authorization, study data on the efficacy of Nusinersen are few and far between. Approval and cost absorption of Nusinersen therapy in adults is based on the assumption that both children and adults experience similar disease courses.

Study on Nusinersen Use

In Germany, the Federal Joint Committee (Gemeinsamer Bundesausschuss, G-BA) is responsible for the evaluation of medicines (and issue of recommendations for cost absorption by the health insurance companies). The G-BA has verified the benefit gained with Nusinersen in SMA and, in doing so, has made reference to the Nusinersen marketing authorization studies with children. There is a knowledge gap with regard to the benefit assessment of Nusinersen in adults with SMA which various register studies (such as the Study on Nusinersen Use) are intended to close.

The Nusinersen benefit assessment is designated to provide answers to the following research questions:
• What is the age range and distribution of the SMA disease course (SMA Types 1-3) in Nusinersen treatment?
• What motor deficits are manifest in patients prior to starting Nusinersen treatment?
• What do people with SMA expect of Nusinersen treatment and how do age, gender or SMA type impact the treatment course?
• Does Nusinersen treatment effect changes in SMA symptoms (improvement, constancy, deterioration)?
• Are there any correlations between the patients’ age, disease duration and efficacy?
• What are the recommendation and patient satisfaction rates with Nusinersen treatment and related circumstances?

Participation in the Study on Nusinersen Use

The following eligibility criteria must be met for inclusion in the study:
• Minimum age: 18 years
• Diagnosis of SMA with mutation in the SMN1 gene (5q-SMA)
• Current or envisaged treatment with Nusinersen (treatment commenced within the last 3 months)
• Consent to participation in the register study and data capturing on the APST platform

Schedule for the Study on Nusinersen Use

The study on Nusinersen use is realized as a comprehensive interview using a questionnaire that may be completed as follows:
• Mail dispatch: patients autonomously fill in the questionnaire they had received by post and submit it by return mail using the enclosed franked return envelope
• Interview conducted during outpatient visits to the clinic to receive Nusinersen treatment
• House call and personal interview of patients
• Interview conducted over the telephone
• Online questionnaire to be completed via the APST platform

Duration and Extent of Interview

It takes approximately 90 to 120 minutes to answer all the questions. Participants will be required to complete the questionnaire at intervals of four months until June 2021.

Financing of the Study on Nusinersen Use

The study is supported with funds from Biogen Ltd., the pharmaceutical research organization responsible for developing and manufacturing the SMA medicine.

Organization and Realization of the Study on Nusinersen Use

The study is realized by APST Ltd. in cooperation with 9 SMA centers across Germany. APST is responsible for the organization of the study and provides a digital research platform. The study was approved by the Ethics Committee of Charité – Universitätsmedizin Berlin (University Hospital Berlin).

Study Centers Cooperating on the Study on Nusinersen Use

The following 9 SMA centers are participating in the study:
• Charité – Universitätsmedizin Berlin – Ambulanz für ALS
Augustenburger Platz 1, 13353 Berlin
• Universitätsklinikum Bergmannsheil – Ambulanz für Motoneuronerkrankungen
Bürkle-de-la-Camp-Platz 1, 44789 Bochum
• Universitätsklinikum Bonn – Klinik für Neurodegenerative Erkrankungen
Sigmund-Freud-Straße 25, 53127 Bonn
• Universitätsklinikum Carl Gustav Carus Dresden – Ambulanz für Motoneuronerkrankungen
Fetscherstraße 74, 01307 Dresden
• Universitätsklinikum Essen – Ambulanz für ALS
Hufelandstraße 55, 45147 Essen
• Medizinische Hochschule Hannover – Ambulanz für ALS
Carl-Neuberg-Straße, 130625 Hannover
• Universitätsklinikum Heidelberg – Neuromuskuläre Ambulanz
Im Neuenheimer Feld 400, 69120 Heidelberg
• Universitätsklinikum Jena – Ambulanz für ALS
Erlanger Allee 101, 07747 Jena
• Universitätsmedizin Rostock, ALS-Ambulanz
Gehlsheimer Straße 20, 18147 Rostock

Exploitation of the Results of the Study on Nusinersen Use

The results will be anonymized and made available to Biogen while safeguarding non-traceability of individual patients’ identity. These data are of great significance to the establishment and further development of Nusinersen treatment. Consideration of the study results in the G-BA benefit assessment is envisaged. Furthermore, the results will be published at life-science congresses and in international journals. Summaries of interim analyses will be published in newsletters and circulated among SMA patients that are registered on the APST platform and have given their consent to receiving newsletters.

Studientelefon: +49 (0)151 – 648 406 30
Zentrale: +49 (0)30 – 810 314 10