Cure CLCN4

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Cure CLCN4

We are a registered charity (1190344) aimed at providing support, raising awareness and funding medical research for effective treatments for CLCN4.

CLCN4 is a rare genetic condition causing intellectual disability and other problems such as epilepsy, behavioural disorders, movement disorders and microcephaly.

13/08/2026

💜 Step 4: Complete the other online surveys

Your Simons Searchlight dashboard may also include additional surveys on areas such as seizures, behaviour, communication, sleep and everyday life. These questionnaires help capture parts of the CLCN4 experience that may not be fully reflected in medical records. Every completed survey adds valuable information to the wider picture of CLCN4.

11/08/2026

💜 Step 3: Complete the Annual Medical History Survey

The Annual Medical History Survey asks about the health, development and day-to-day experiences of the person with CLCN4-related neurodevelopmental disorder.

It may take around 1–2 hours to complete, but it the most valuable part of the registry. By sharing this information each year, families help researchers understand the range of CLCN4 features and how the condition may change over time.

06/08/2026

💜 Step 2: Upload the genetic lab report

After creating your Simons Searchlight account, you will be asked to upload a copy of your or your child’s genetic lab report 🧬 This helps Simons Searchlight confirm the CLCN4 variant and ensure that the information collected contributes to the CLCN4 community’s research data.

Don’t have a copy of the report? Your genetics or medical team may be able to provide one.

04/08/2026

Ready to join the CLCN4 Patient Registry? 🙋‍♀️

Registration with Simons Searchlight begins online and includes a consent process to make sure families understand how their information may be used. Your information is kept secure, and data shared with researchers are de-identified.

✨ Start your registration here: https://research.simonssearchlight.org/account/create

30/07/2026

Joining the CLCN4 Simons Searchlight patient registry is simple, and your participation makes a lasting impact for the CLCN4 community 🧬

Whether you’re signing up for the first time or completing your annual surveys, every update helps researchers better understand CLCN4-related condition.

Thank you for being part of this growing community and helping move research forward. 🧡

To register, go to https://research.simonssearchlight.org/account/create.

28/07/2026

🧡 What is the CLCN4 Patient Registry?

The CLCN4 Patient Registry is hosted by Simons Searchlight. It brings together information shared by families to help researchers better understand CLCN4-related neurodevelopmental disorder, improve clinical care and support progress towards future treatments.

If you are already part of the registry, thank you. Please remember to complete this year’s follow-up surveys so the information remains current and valuable.

Not signed up yet? You can register here:
https://research.simonssearchlight.org/account/create

15/07/2026

Professor Matthew Wood’s talk, "Pioneering a Path to Therapy Development for Rare Neurological Disorders", offered an encouraging and practical perspective on how treatments could be developed for rare conditions such as CLCN4-related condition 🧬

He highlighted a major challenge in rare-disease drug development: even when the science suggests that a treatment may be possible, high costs, risk and limited commercial incentive can prevent promising ideas from progressing 🔬

The Oxford-Harrington Rare Disease Centre aims to address this by combining academic disease expertise, philanthropic seed funding and experienced industry drug-development specialists. This model helps generate the early evidence needed to de-risk programmes and attract further investment and partnerships.

09/07/2026

🇫🇷 Nous sommes ravis de vous présenter Caroline Monjaud, la première représentante des familles touchées par le CLCN4 en France.

Maman de Mathilde, qui vit avec une condition liée au CLCN4, Caroline connaît par expérience les nombreux défis auxquels les familles peuvent être confrontées après un diagnostic : trouver les interlocuteurs adéquats, comprendre les démarches administratives, accéder à un accompagnement adapté, organiser la scolarité et se sentir moins seules face à une maladie rare.

Caroline a généreusement accepté d’être un point de contact pour les familles vivant en France. Elle pourra aider les familles à trouver les bonnes ressources, partager des informations pratiques et favoriser les liens au sein de la communauté CLCN4 en France.

Elle espère également pouvoir organiser, à terme, un rassemblement annuel afin que les familles puissent se rencontrer, partager leurs expériences et se soutenir mutuellement en personne.

Nous sommes extrêmement reconnaissants envers Caroline pour son engagement, sa générosité et sa volonté de soutenir d’autres familles. 💙

06/07/2026

Dr Emma Palmer, scientific advisor to Cure CLCN4 and rare disease clinician, shared how the CLCN4 community is building the foundations for better care today and future treatments tomorrow.

She highlighted the progress being made through research, investment in important research tools and the growing patient registry. Emma also emphasised that families’ experiences are essential: they help us understand how CLCN4 affects everyday life and identify the areas of care that matter most.

Looking ahead, she outlined three key priorities for the community:
- Developing international clinical care guidelines for CLCN4
- Building a global network of clinicians with CLCN4 expertise
- Continuing long-term studies to better understand the condition and prepare for future clinical trials

By bringing families, clinicians and researchers together, the CLCN4 community can strengthen care now while helping move future treatments closer.

30/06/2026

Dr Misia Kowanda shared an update from the CLCN4 Simons Searchlight Registry. The registry now includes around 60 people with a confirmed CLCN4 genetic report, including 50 with a pathogenic or likely pathogenic variant. Families contribute information about development, health, behaviour, sleep, seizures and medications.

The data highlight both shared experiences and important differences between individuals. Developmental delay, intellectual disability and language differences were commonly reported. Some participants also experienced seizures, vision differences or low muscle tone, but no single pattern applies to every person with CLCN4-related condition.

By bringing this information together, the registry can help researchers better understand the range of experiences within the CLCN4 community and identify important questions for future research.

Watch the full talk here 👉 https://youtu.be/vT1YSOxsIN4

To participate in the registry please visit: https://research.simonssearchlight.org/account/create

Address

London

Telephone

+442080781601

Website

https://linktr.ee/cureclcn4

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