Clinical Trials

How You Can Help Shape the Future of Medical Research

Clinical trials play a crucial role in the development of new treatments, tests, and procedures to diagnose and treat FSHD.

This page explains what clinical trials are, and what to consider if you’re thinking about taking part in a trial.

Jump to the bottom of this page to find clinical trials that are currently active in Australia for people with FSHD.

What are clinical trials?

Clinical trials are studies involving human volunteers that test the effects of new medical interventions on diseases like FSHD. These interventions can include new treatments, medications, tests, procedures, or lifestyle changes.

By taking part in a clinical trial, you can help researchers understand how these interventions work, identify potential side effects, and determine how effective they are.

Why are clinical trials important?

Clinical trials are essential for the development of new treatments and interventions that can improve quality of life, reduce pain, and prevent disabilities for people with FSHD.

While computer simulations and animal testing can provide preliminary data, testing on humans is essential to confirm the effectiveness and safety of new treatments. Having a wide range of people take part in clinical trials helps ensure that results are reliable and applicable to a broad population.

Why should I participate in a clinical trial?

Advance Medical Knowledge: Your participation can help scientists understand FSHD better, and find new ways to diagnose, treat, and prevent the disease.
Improve Patient Care: Clinical trials can lead to improved treatment options and better care for people with FSHD.
Personal Benefit: You may gain access to new interventions before they are widely available, and receive additional medical attention from clinical trial staff.

Types of interventions studied in clinical trials

Pharmaceutical interventions: e.g. experimental drugs, vaccines, and biological medicines.
Disease detection methods: e.g. new diagnostic or screening tests.
Medical or surgical procedures: e.g. new devices or surgical techniques.
Preventive care: e.g. vaccines, vitamins, and lifestyle changes.
Psychological therapies: e.g. cognitive behavioural therapies.
Educational interventions: e.g. health-related services and information.

Phases of clinical trials

Clinical trials are conducted in different stages, called ‘phases’, to carefully test the safety and effectiveness of new medicines and interventions:

Phase 1: Tests a new intervention in a small group of people (e.g. tens of people) to determine the safest dose and identify common side effects.
Phase 2: Expands to a larger group of people with the disease (e.g. up to one hundred) to assess effectiveness and further safety tests.
Phase 3: Involves a much larger group of people with the disease (e.g. several hundred) to compare the intervention against existing treatments, monitor side effects, and gather more information on safe usage. This is usually the last phase before a treatment is considered for approval for routine public use.
Phase 4: Ongoing monitoring of side-effects and effectiveness after the intervention is approved for public use.

Other types of trials

Clinical trials are conducted in phases to ensure the safety and effectiveness of new interventions:

Exploratory Studies (Phase 0): Small-scale studies to understand how the body responds to an experimental drug.
Diagnostic Trials: Assess the accuracy and effectiveness of diagnostic tests in different phases.

FAQs

Volunteering for a clinical trial is a significant contribution to medical research. By participating, you can help researchers develop better treatments and improve healthcare for everyone with FSHD.

Below are a few questions you should consider before you look for a trial to take part in.

Jump to the bottom of this page to find out what clinical studies are currently running in Australia for people with FSHD.

How will I know if I can take part in a particular clinical trial?

Each trial will have its own specific rules for who can and can’t take part, known as ‘eligibility criteria’. There are two types: ‘inclusion criteria’ allow people to take part, and ‘exclusion criteria’ would prevent someone from taking part. Some criteria will be assessed by the study team, like your clinical severity score or reachable workspace area. But other information you may be able to provide yourself, like your age and medical history.

These criteria are put in place to keep participants safe, as well as minimising the variability of the results and so making the results more reliable.

It’s vital you disclose any known or suspected conditions you may have, as this could affect your health and safety as a trial participant.

What can I do to be ‘trial ready’?

For each trial, there are eligibility criteria which you must meet to be able to take part. However, there are steps you can take which could reduce delays and improve your chances of being able to take part in any trial:

Make sure you have had your FSHD diagnosed by a doctor, and get a genetic test confirming what type of FSHD you have.
See your neurologist regularly.
Follow recommendations for exercise and other lifestyle changes as best you can.
Download the ‘Cure FSHD’ app and join our patient-led registry.
Complete the ‘Clinical Trial Passport’ on Cure FSHD, including your genetic and saliva test results, get your full body Springbok MRI scan and complete the questionnaires.
Sign up to get FSHD Global email alerts by emailing admin@fshdglobal.org or subscribe to our newsletter on the bottom of this page.

How do I sign up to participate in a clinical trial?

Use our website or ClinicalTrials.gov to find the contact information for the study team of the trial you’re interested in taking part in. This is usually an email address, phone number, or website form.
Contact the study team and let them know the name of the clinical trial you are interested in. You might have to wait for the study team to call or email you back, which could take several weeks.
Usually, the first step in the screening process is a phone call. The study team will tell you more about the trial, and ask you some basic questions. If they think you will meet the eligibility criteria, they will schedule a time for you to come to a study site for a screening visit.
At the screening visit, the study team will talk you through the informed consent form. This is to make sure that you understand what you will need to do during the trial, and the potential benefits and risks involved, and agree to them. (Remember you can withdraw from a trial at any point, even after you have agreed to take part, but you must inform the study team that you intend to do this).
If you agree to take part, the study team will perform all the tests needed to find out if you meet the eligibility criteria.
Finally, the study team will tell you whether you meet all the eligibility criteria. If you meet the criteria, you can agree to take part in the study. If you do not meet the criteria, you will not be able to participate.

What types of activities could I be asked to do during a clinical trial?

You will almost always have to attend study visits in person during a clinical trial, though you might be able to do some visits remotely (e.g. on a phone call or video call). The study team may also call you to check how you are doing, or ask you to do certain activities at home.

Examples of activities you may be asked to do at study visits or at home include:

Physical exam.
Give a blood sample.
Electrocardiogram (ECG), or other tests to monitor your heart.
Answering questions about your health and ways your disease affects your life. Sometimes, these questions can be very personal; for example, you might be asked about your mental or sexual health.
Tests to measure your strength, mobility, or range of motion.
MRI scan.
Muscle biopsy.
Taking your medicine at specific times.
Notifying the study team about any illness, injuries, or side-effects you experience.

How do I decide which clinical trial to participate in?

There are potential benefits to taking part in a trial, but there are also potential risks. Once you have received information about the study and what it will involve, it is important you fully consider the risks and the commitment asked of you. For example:

Are you able to attend all the scheduled appointments and tests? You will most likely have to attend multiple site visits over weeks, months, or even years. Study visits vary in length, but can sometimes last an entire day or require an overnight stay.
Will you need to travel? You may need to travel to be part of the trial. Sometimes travel assistance or reimbursement is offered, and this can be discussed with the team leading the trial. If you need a companion to travel with you, will they be able to take time off from work?
Do you understand and accept the risks involved? The medicines in Phase 1 studies have usually not been tested in humans before. All clinical trials involve risk, but first-in-human studies are by their nature riskier, and the study team will want to monitor you very closely. This may also mean more work for you, such as keeping a diary of any side effects, or attending the site in person or for an overnight stay to be monitored.
Are you willing to take a placebo? Clinical trials, particularly Phase 3 trials, often compare a new medicine to a placebo – a non-active ‘mock’ version of the medicine that looks like the real one. This means that some participants will not receive the real medicine. Neither the participant nor their healthcare team will know whether they are receiving the placebo until after the end of the study.

Note that some clinical trials provide an ‘open-label extension’, which means that, even if you were receiving the placebo during the study, you can opt to take the active medication after the trial is complete.

Is the medicine safe? What happens if the medicine makes me sick?

One of the main aims of any clinical trial of a new medicine is to learn about its safety. The study team won’t always know before the trial all the side effects that could happen. This is an important risk of participating in clinical trials. However, clinical trials must meet strict standards to help ensure the medicine is as safe as possible.

If you become sick while taking the medicine, your study team will record what happened and help make sure you receive any medical care you need. The study team will decide whether they think it is safe for you to continue taking the medicine or if you should stop. The informed consent form will explain this information.

Will I learn about the results of the clinical trial?

Yes – you will get to learn the overall results of the trial, but not your personal results. However, it could take a long time.

Even after you finish your part in the study, other participants might not finish for several more months, as trial recruitment often happens over a long period of time. The study team must wait for all participants to finish before they can do a full analysis of the data collected. It could take the study team 6-18 months to analyse all the data and get ready to share the results. Sometimes, a study team will share preliminary results before the trial has completely finished.

Many study teams will notify participants when they have results to share, for example, through an email newsletter. Most study teams will also publish their results in scientific journals or present them at scientific conferences.

Key Terms

Eligibility criteria
Factors that allow you to be included in a study (inclusion criteria), or that prevent you from taking part in a study (exclusion criteria).

Informed consent
The process of learning everything you need to know about a study before deciding if you want to take part. This includes:

the purpose of the study.
what intervention you will receive.
the schedule of study visits, and what will be involved.
the risks and benefits.
how your data will be used.

If you agree to participate in the study, you will give your consent by signing an Informed Consent Form. Remember, you can withdraw your consent and decide to stop taking part in a study at any time, for any reason.

Intervention
A medicine or other treatment being tested in a clinical trial.

Open-label extension (OLE)
An optional period after the end of some studies, when all participants receive the active medicine (even if they were receiving a placebo during the trial), and the study team continues to collect data.

Placebo
A mock version of a medicine, which looks the same but does not contain the active ingredients that treat the disease.

Screening
A series of questions and tests the study team will perform with you to find out if you meet all the eligibility criteria for a study.

Study
A research process to learn about a disease, or test a new idea.

Study site
A place where a study is performed, often a hospital, clinic, or research center.

Study visit
An appointment when the study team needs to perform tests or collect data from you. Most study visits will be in-person, but some you might be able to do remotely from home.

Current & Future Clinical Trials

Active Clinical Trials, Currently Recruiting

FORTITUDE

Avidity Biosciences

A Phase 1/2 study of the safety and efficacy of RNA therapy to block DUX4 called ‘del-brax’ (delpacibart braxlosiran), previously named AOC 1020.
No Australian sides.

For more information, visit https://fortitude-study.com/

ARO-DUX4 trial

Arrowhead Pharmaceuticals

A phase 1/2a study of the safety and dosage of RNAi therapeutic to block DUX4, called ARO-DUX4.

Australian sites: Sydney, Melbourne, Brisbane and Sunshine Coast.

Currently recruiting: Brisbane (email: clinicaltrials@wesleyresearch.org.au) and Sunshine Coast (email: SC-Clinicaltrials@health.qld.gov.au).
Sydney: Phase 1 screening has begun. Due to limited spots, a waitlist will be in place for the study.

For more information, visit: https://www.clinicaltrials.gov/study/NCT06131983

Active clinical trials, not recruiting

MANOEUVRE

Roche

A phase 2 study of a drug called RO7204239, to test safety and to test if the drug can help muscles grow.

For more information about the MANOEUVRE study, visit: https://forpatients.roche.com/en/trials/muscle-and-peripheral-nerve-disease/facioscapulohumeral-muscular-dystrophy/a-study-to-evaluate-ro7204239-in-participants-with-faci-44329.html

Active Research Studies

MOVE FSHD

FSHD Clinical Trial Research Network

Natural history study to help improve future clinical trials. Australian Site: Melbourne

For more information: https://clinicaltrials.gov/study/NCT04635891