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Ativo, mas não recrutandoOBSERVACIONAL

Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study

This international study aims to understand how a rare genetic condition called XLHED affects young boys and their families over a two-year period. XLHED mainly causes problems with sweating, teeth, and hair, which can significantly impact daily life. By carefully observing boys with XLHED, researchers hope to learn more about the condition's natural course and the challenges families face. This information will help improve understanding and support for those living with XLHED. The study is for boys up to 11 years old and will involve parents answering questionnaires at different times.

Em resumo

Status
Ativo, mas não recrutando
Patrocinador
Pierre Fabre Medicament
Meta de inscrição
27
Iniciar
19 Jul 2023
Conclusão estimada
19 Nov 2026

Sobre o que é este estudo?

This study is called 'Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys'. XLHED is a rare health condition that someone is born with, and it tends to affect boys more severely. The main health issues caused by XLHED are problems with sweating (which can lead to dangerous overheating), a lack of teeth or very few teeth, and thin or sparse hair. These challenges can significantly affect a child's daily life and their family. Because it's a rare condition, we don't know as much about it as we do about more common illnesses.

This study isn't testing a new medicine or treatment. Instead, it's an 'observational' study. This means researchers will simply be watching and learning about how XLHED affects boys and their families over time. They want to see how the condition progresses naturally and how it impacts day-to-day living. By understanding these experiences, the study hopes to shine a light on the real-life difficulties faced by boys with XLHED and their families.

The main goal is to improve our overall understanding of this condition. The information gathered could help doctors and support groups provide better care and advice in the future. The study will take place over two years and involve families answering questions about their experiences at different points in time.

Pontos principais

  • It's an 'observational' study, not testing medicine.
  • Aims to understand daily challenges of XLHED for boys and families.
  • Involves completing questionnaires over two years.
  • For boys with XLHED aged newborn up to 11 years old.
  • Participation will help improve future understanding and support for XLHED.

Quem pode ser elegível?

This study is looking for young boys who have X-linked Hypohidrotic Ectodermal Dysplasia, or XLHED. To join, a boy must be aged from birth up to the day before his 11th birthday.

His XLHED diagnosis needs to be confirmed in one of two ways: either through a special genetic test, or by showing the typical signs of XLHED (like problems with sweating, teeth, and hair) and if his mother has also had a genetic test confirming she carries the XLHED gene.

Boys cannot join the study if they have previously received a specific treatment called ER004 or have taken part in any other study that was testing ER004. Also, if a boy was tested for XLHED but the results showed he does not have the condition, then he cannot be part of this study.

Este estudo pode ser adequado para você?

Responda a estas perguntas rápidas para ver se você pode ser elegível. Este é apenas um guia — a decisão final é da equipe de pesquisa.

  1. Is your child a boy?
  2. Is your child aged between birth and 10 years old?
  3. Has your child been diagnosed with XLHED (by genetic test or symptoms + mother's genetic test)?
  4. Has your child NOT received ER004 treatment or been in a trial for it?
  5. Has your child NOT had a negative test result for XLHED?
Responda a todas as perguntas para ver o seu resultado.

O que envolve a participação?

If your child takes part in this study, it will last for two years. During this time, you, as the parent, will be asked to fill out questionnaires. You'll complete the first set of questionnaires when your child is first included in the study. Then, you'll be asked to fill them out again one year later and finally at the two-year mark. There are no new medications to take, no special treatments, and no additional medical appointments directly related to this study. It's all about sharing your experiences and observations through the questionnaires.

Riscos e benefícios potenciais

This study is observational, meaning it doesn't involve any new medicines or procedures, so there are no direct medical risks. The main commitment is your time to complete questionnaires. The potential benefit is that the information gathered from families like yours will help researchers better understand XLHED, which could lead to improved support and care for future patients. You are free to withdraw your child from the study at any time without giving a reason, and it will not affect your child's usual medical care.

Localizações (2)

  • Necker hospital
    Código postal verificado
    Paris, França
  • Uniklinikum Erlangen
    Código postal verificado
    Erlangen, Germany

Perguntas frequentes

What is XLHED?

XLHED is a rare health condition, present from birth, that mostly affects boys and causes problems with sweating, teeth, and hair.

Este estudo está testando um novo medicamento?

No, this study is 'observational', meaning it's about watching and learning. It's not testing any new medicines or treatments.

How long will my child be in the study?

If your child joins, the study will involve you completing questionnaires over a two-year period.

Will my child need extra doctor visits?

No, this study doesn't require any additional doctor visits beyond your child's normal medical care.

Can we leave the study at any time?

Yes, you are completely free to withdraw your child from the study at any point without needing to explain why.

Como saber mais

Sempre consulte seu médico ou especialista antes de decidir participar de um estudo.

Discussão

Discussão da comunidade

Desenvolvido pelo nosso fórum em community.patient.info. Por favor, seja respeitoso — isto não é um conselho médico.