Active not recruitingPHASE2INTERVENTIONAL

A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia

This research, called Study 111-209, is looking into a medicine called vosoritide for very young children and babies up to one year old who have achondroplasia. Achondroplasia is a genetic condition that affects how bones grow, leading to short stature. This study is specifically for babies who are at higher risk of needing an operation on their neck (cervicomedullary decompression surgery) due to a common complication of achondroplasia. The main goal is to check if vosoritide is safe for these young patients. It’s also hoped that starting treatment early, while the bones at the base of the skull are still developing, might help prevent or lessen the severity of the neck problem.

At a glance

Status

Active not recruiting

Phase

PHASE2

Sponsor

BioMarin Pharmaceutical

Enrolment target

Start

10 Oct 2020

Estimated completion

01 Dec 2027

Achondroplasia

What is this study about?

This study is called 111-209 and it's a 'Phase 2' trial. This means we're still in the earlier stages of figuring out how a new medicine works and if it's safe, especially in a specific group of patients. The medicine being tested is called vosoritide. It’s for babies and very young children who have achondroplasia.

Achondroplasia is a genetic condition that affects how bones grow, causing short limbs and sometimes other health challenges. One important concern for infants with achondroplasia can be a narrowing at the base of the skull, where the brain meets the spinal cord. This narrowing is called cervicomedullary compression (CMC) and can sometimes require surgery to relieve pressure. This study is focusing on babies who are at a higher risk of needing this surgery.

The main aim of this study is to see if vosoritide is safe for these babies. Doctors also want to understand if treating with vosoritide very early on, while the bones at the base of the skull are still growing and changing, could help improve the situation and reduce the likelihood of needing surgery for CMC. All participants will receive the study medicine, and researchers will carefully watch how they respond.

Key takeaways

This study is for babies aged 0-12 months with achondroplasia.
It tests a medicine called vosoritide to see if it's safe and might help with neck problems.
The focus is on babies at risk of needing neck surgery.
Parents must be willing to give daily injections at home.
All babies in this study will receive the active medicine, vosoritide.
Participation is voluntary, and you can withdraw at any time.

Who may be eligible?

To be considered for this study, your baby must have achondroplasia, which has been confirmed by genetic testing. They must be between birth and 12 months old when they join. Parents or guardians need to agree to all study procedures and be able and willing to give daily injections of the medicine to their child at home, after receiving training.

Critically, your baby must also show signs of a specific neck problem (clinically significant cervicomedullary compression) that doctors believe *might* need surgery later on. This study is not for babies who definitely won't need surgery, nor for those who need surgery immediately.

There are also some reasons why a baby would *not* be able to join. For example, if they have certain other health conditions like hypochondroplasia (another type of dwarfism) or specific heart, kidney, thyroid, or immune system problems. Babies who have very low blood pressure or certain chronic illnesses would also not be eligible.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Is your baby 12 months old or younger?
Does your baby have achondroplasia confirmed by a genetic test?
Are you able and willing to give daily injections to your baby at home?
Has your baby's doctor said they have a neck problem that *might* need surgery later, but not immediately?
Does your baby have any serious heart, kidney, thyroid, or immune system issues?

Answer every question to see your result.

What does participation involve?

If your baby takes part, you'll first need to read and sign a consent form, making sure you understand everything about the study. Your baby will need to have genetic testing to confirm they have achondroplasia, if this hasn't been done already. The study will involve regular visits to the clinic for check-ups and assessments, though the exact number and frequency of visits aren't detailed here. You will be trained on how to give your baby daily injections of the study medicine, vosoritide, at home. The total duration of the study isn't specified, but it will involve continued monitoring to check safety and how your baby is responding to the treatment.

Potential risks and benefits

Participating in any study has potential benefits and risks. A potential benefit of this study is that vosoritide might improve the narrowing at the base of the skull in babies with achondroplasia, potentially reducing the need for surgery. However, like all medicines, vosoritide may have side effects, and these will be carefully monitored throughout the study. You will be fully informed of any known risks before making your decision. It is very important to remember that joining a study is always voluntary, and you have the right to withdraw your baby at any time, for any reason, without it affecting your child’s future medical care.

Locations (3)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Murdoch Children's Research Institute
Verified postcode
Parkville, Australia
Guy's and St. Thomas NHS Foundation Trust Evelina Children's Hospital
Verified postcode
London, United Kingdom
Sheffield Children's NHS Foundation Trust
Verified postcode
Sheffield, United Kingdom

Common questions

What is achondroplasia?

Achondroplasia is a genetic condition that affects how bones grow, leading to short stature and other specific features. It's the most common form of dwarfism.

What is cervicomedullary decompression surgery?

This is an operation at the base of the skull to relieve pressure on the brainstem and spinal cord. It's sometimes needed in people with achondroplasia if the opening in the skull is too narrow.

What does 'Phase 2' mean for a clinical trial?

Phase 2 means the study is still in the earlier stages. Researchers are testing the medicine in a larger group of people to see if it's safe and effective for a specific condition.

Will my baby get the active medicine or a dummy medicine?

In this specific study, all participants will receive the active medicine, vosoritide. There is no dummy medicine (placebo) group.

Who is funding this research?

The information provided doesn't state who is funding this specific trial (Study 111-209), but clinical trials are typically funded by pharmaceutical companies, government agencies, or research organisations.