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A Multicenter Multinational Observational Study of Children With Hypochondroplasia

This study is for children with a specific genetic condition called hypochondroplasia. Researchers want to observe how these children grow and how their condition progresses over time. They will gather important information, such as height and other health measurements, to learn more about hypochondroplasia. The aim is to build a clearer picture of the condition's typical course, which could help doctors better support children and families in the future. It's an observational study, meaning participants will simply be monitored, and no new treatments will be given.

At a glance

Status
Recruiting
Sponsor
BioMarin Pharmaceutical
Enrolment target
400
Start
27 Nov 2023
Estimated completion
31 Dec 2043

What is this study about?

This study is looking into a genetic condition called hypochondroplasia, which can affect how children grow. It's a type of short stature, meaning children with the condition tend to be shorter than average. Because it's quite rare, doctors don't always have a full picture of how it affects children as they grow up.

The main goal of this study is to simply observe and understand the natural course of hypochondroplasia. This means researchers will follow children with the condition over time to see how their growth changes and what other health aspects might be important. They will collect measurements like height and other health-related information, but they won't be testing any new medicines or treatments.

Collecting this information is really important because it helps improve our understanding of hypochondroplasia. The more doctors know about how the condition typically develops, the better they can support families and provide the best possible care for children. Your participation would help build a better understanding for everyone affected by this condition.

Key takeaways

  • This study aims to understand how children with hypochondroplasia grow and develop.
  • It's an observational study – no new medicines or treatments will be given.
  • Participation involves regular check-ups and measurements of your child's growth.
  • Only children aged 15 or under with a confirmed genetic diagnosis are eligible.
  • Your child's information will help improve future understanding and care for hypochondroplasia.

Who may be eligible?

This study is for children aged 15 years or younger. To join, a child must have been officially diagnosed with hypochondroplasia through a genetic test. This test confirms the specific genetic change that causes the condition.

Children cannot join if they have another genetic condition that causes short height, apart from hypochondroplasia. Also, if a child has taken part in a study involving a new medicine or medical device within the last six months, they won't be able to join this study.

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.

  1. Is your child 15 years old or younger?
  2. Has your child been diagnosed with hypochondroplasia through a genetic test?
  3. Does your child have any other known genetic conditions causing short height (apart from hypochondroplasia)? (If yes, they might not be eligible)
  4. Has your child received any experimental medicine or device in the last 6 months? (If yes, they might not be eligible)
Answer every question to see your result.

What does participation involve?

If you decide to take part, your child will have their growth measured regularly, and other health information will be collected. This is an 'observational' study, which means no new medicines or treatments will be given as part of the study; your child will continue with their usual care. The visits will involve standard check-ups and measurements that would likely be part of their normal medical care. The study aims to follow children over time, but the exact number and timing of visits will be explained in full detail by the study team. You can stop participating at any time.

Potential risks and benefits

A potential benefit of joining this study is that the information gathered will help doctors better understand hypochondroplasia, which could lead to improved knowledge and care for children with the condition in the future. For your child, taking part mainly involves having their growth and health monitored, similar to regular check-ups, so new risks are expected to be very low. The main commitment is attending appointments to collect the data. You have the full right to withdraw your child from the study at any time without giving a reason, and this will not affect your child's medical care.

Locations (43)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.
  • Phoenix Children's Hospital
    Verified postcode
    Phoenix, United States· Recruiting
  • Cedars-Sinai Medical Center
    Verified postcode
    Los Angeles, United States· Not yet recruiting
  • UCSF Benioff Children's Hospital
    Verified postcode
    Oakland, United States· Recruiting
  • Nemours Alfred I. Dupont Hospital for Children
    Verified postcode
    Wilmington, United States· Recruiting
  • Children's National Health System
    Verified postcode
    Washington D.C., United States· Recruiting
  • Ann & Robert H. Lurie Children's Hospital of Chicago
    Verified postcode
    Chicago, United States· Recruiting
  • The Johns Hopkins University School of Medicine
    Verified postcode
    Baltimore, United States· Not yet recruiting
  • Boston Children's Hospital
    Verified postcode
    Boston, United States· Recruiting
  • University of Minnesota Masonic Children's Hospital
    Verified postcode
    Minneapolis, United States· Recruiting
  • University of Missouri
    Verified postcode
    Columbia, United States· Recruiting
  • Washington University School of Medicine in St. Louis
    Verified postcode
    St Louis, United States· Recruiting
  • Mount Sinai Kravis Children's Hospital
    Verified postcode
    New York, United States· Recruiting

Common questions

What is hypochondroplasia?

It's a rare genetic condition that affects how bones grow, often leading to shorter stature.

Will my child receive new treatment in this study?

No, this is an observational study. Your child will continue with their current medical care; no new treatments are given.

How long will my child be in the study?

The study aims to follow children over time. The study team will give you details about the expected duration during your first visit.

Do we have to travel far for appointments?

This is a multicenter study, meaning it takes place in several locations. You would likely visit a research centre close to you. The study team can provide details.

Can I remove my child from the study?

Yes, you can choose to withdraw your child from the study at any time, for any reason, and it won't affect their medical care.

How to find out more

Trial Specialist

Always speak to your GP or specialist before deciding to take part in a study.

Interested in taking part?

Register your interest

Share your details and the research team for "A Multicenter Multinational Observational Study of Children …" will contact you if you may be eligible. Always speak to your GP before agreeing to take part.

Discussion

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