A study to describe the fertility journey of risdiplam-treated adult male individuals with spinal muscular atrophy
| ISRCTN | ISRCTN31399857 |
|---|---|
| DOI | https://doi.org/10.1186/ISRCTN31399857 |
| Secondary identifying numbers | ML44914 |
- Submission date
- 22/02/2024
- Registration date
- 13/03/2024
- Last edited
- 11/06/2024
- Recruitment status
- Recruiting
- Overall study status
- Ongoing
- Condition category
- Nervous System Diseases
Plain English summary of protocol
Background and study aims
Spinal muscular atrophy (SMA) is an inherited disorder which results in weakness and wasting of muscles used for movement. It is caused by the loss of certain specialized nerve cells in the brain and spinal cord that control muscle movement, known as motor neurons. Risdiplam is approved by the U.S. Food and Drug Administration (FDA) for the treatment of paediatric and adult patients with SMA. The purpose of this study, the MARLIN study, is to gather information about the fertility journey of adult male individuals with SMA who are taking or have taken risdiplam.
Who can participate?
Males with SMA between 18 and 50 years of age, who are taking or have taken risdiplam, and are trying to conceive a child or have previously conceived a child after taking risdiplam, can participate in this study. Additionally, there is an option for the participant’s sexual partner/surrogate/gestational carrier to also participate.
What does the study involve?
Participation in this study is fully remote and involves the completion of questionnaires using an electronic platform. It does not include any procedures or doctor visits. The questionnaires include the following topics: demographics, medical history and medications, risdiplam use, sexual history, and fertility journey (including any tests and treatments the participant has undergone in their attempt to conceive a child). Each questionnaire takes approximately 20-45 minutes to complete.
Participants who are actively trying to conceive a child will complete an initial questionnaire and subsequently complete a follow-up questionnaire once a year for up to 3 years. Participants who conceived before study enrollment but after treatment with risdiplam will only complete the initial questionnaire.
Participants who successfully conceive or stop trying to conceive before the end of the 3 years will be considered to have completed the study. If a participant has conceived at the end of 3 years but the outcome of the pregnancy is not yet known, they will complete an additional follow-up questionnaire to capture this outcome.
If the participant’s sexual partner, surrogate, or gestational carrier agrees to take part in the study, they will also be asked to complete similar questionnaires.
What are the possible benefits and risks of participating?
Participants will not receive any direct medical benefit from participating in this study but the information that is learned may help other people with SMA in the future.
Where is the study run from?
Genentech Inc. (USA)
When is the study starting and how long is it expected to run for?
October 2023 to May 2029
Who is funding the study?
Genentech Inc. (USA)
Who is the main contact?
global-roche-genentech-trials@gene.com
Contact information
Public, Scientific, Principal Investigator
Building 1, Grenzacherstrasse 124
Basel
CH-4070
Switzerland
| Phone | +1 888-662-6728 |
|---|---|
| global-roche-genentech-trials@gene.com |
Study information
| Study design | Phase IV real-world observational study with prospective and retrospective data collection |
|---|---|
| Primary study design | Observational |
| Secondary study design | Longitudinal study |
| Study setting(s) | Internet/virtual, Other |
| Study type | Other |
| Participant information sheet | No participant information sheet available |
| Scientific title | Observational study of fertility in risdiplam-treated adult male patients with spinal muscular atrophy (MARLIN) |
| Study acronym | MARLIN |
| Study objectives | The purpose of the study is to collect and describe fertility-related outcomes in adult males with SMA who have received risdiplam treatment. |
| Ethics approval(s) |
Approved 26/02/2024, WCG North America (212 Carnegie Center, Suite 301, Princeton, NJ, 08540, United States of America; +1 855-818-2289; Clientcare@wcgclinical.com), ref: 20240680 |
| Health condition(s) or problem(s) studied | Spinal muscular atrophy |
| Intervention | Adult male participants with SMA, who are currently on treatment with risdiplam or were previously treated with risdiplam, will be enrolled in this study. Participants actively trying to conceive will provide prospective data via questionnaires at baseline and annually for 3 years, with an option for their sexual partner/surrogate/gestational carrier to complete questionnaires. If the partner/surrogate/gestational carrier is pregnant at the end of the 3 years of follow up, an additional annual questionnaire to capture the pregnancy outcome will be administered. Data will be collected at baseline for those who conceived before study enrollment but after exposure to risdiplam. If a participant successfully conceives and the outcome of the pregnancy is known, or if a participant stops trying to conceive before the end of the 3 years of follow-up, they will have completed the study early. Questionnaires will be entered into an electronic platform to be administered remotely following participant consent. |
| Intervention type | Other |
| Primary outcome measure | Whether risdiplam-exposed adult males with SMA conceive, measured using questionnaires completed by the participants at study initiation and annually for up to 3 years |
| Secondary outcome measures | 1. Presence of confounding factors that may impact fertility in enrolled participants, measured using questionnaires completed by the participants at study initiation and annually for up to 3 years 2. Fertility-related healthcare resource utilization, management, and treatment decisions in enrolled participants, measured using questionnaires completed by the participants at study initiation and annually for up to 3 years 3. Outcome of pregnancies, measured using questionnaires completed by the participants at study initiation and annually for up to 3 years |
| Overall study start date | 10/10/2023 |
| Completion date | 30/05/2029 |
Eligibility
| Participant type(s) | Patient |
|---|---|
| Age group | Adult |
| Lower age limit | 18 Years |
| Upper age limit | 50 Years |
| Sex | Male |
| Target number of participants | 30 |
| Key inclusion criteria | 1. Diagnosis of SMA 2. Currently receiving or previously ever received risdiplam treatment 3. Actively trying to conceive or conceived in the past (during or after exposure to risdiplam) 4. Consent to a baseline and annual questionnaire for the duration of the study 5. Able to complete a questionnaire, in English, with or without assistance 6. Able to access a smartphone with internet connection |
| Key exclusion criteria | 1. Participants who are using/used donor sperm for conception 2. Participants who are using/used their own cryopreserved sperm that was not exposed to risdiplam for conception |
| Date of first enrolment | 30/05/2024 |
| Date of final enrolment | 30/05/2026 |
Locations
Countries of recruitment
- United States of America
Study participating centre
Pennsylvania
19411
United States of America
Sponsor information
Industry
Building 1, Grenzacherstrasse 124
Basel
CH-4070
Switzerland
| Phone | +1 888-662-6728 |
|---|---|
| global-roche-genentech-trials@gene.com | |
| Website | https://www.roche.com/about/ |
"ROR" |
https://ror.org/04gndp242 |
Funders
Funder type
Industry
Private sector organisation / For-profit companies (industry)
- Alternative name(s)
- Genentech, Inc., Genentech USA, Inc., Genentech USA
- Location
- United States of America
Results and Publications
| Intention to publish date | 30/05/2030 |
|---|---|
| Individual participant data (IPD) Intention to share | No |
| IPD sharing plan summary | Not expected to be made available |
| Publication and dissemination plan | Planned publication in a high-impact peer-reviewed journal and at research conferences |
| IPD sharing plan | The datasets generated during and/or analysed during the current study are not expected to be made available due to participant-level data not being a regulatory requirement. |
Editorial Notes
11/06/2024: Study website added.
20/03/2024: The following changes were made to the trial record:
1. The ethics approval was added.
2. The intervention type was changed from 'Drug' to 'Other'
3. The sponsor name was changed from F Hoffmann-La Roche to Genentech Inc..
4. The funder name was changed from F Hoffmann-La Roche to Genentech Inc..
5. The plain English summary was updated to reflect these changes.
13/03/2024: Study's existence confirmed by the WCG Institutional Review Board (IRB).
