Leigh syndrome roadmap project: a natural history study (UK)
Leigh syndrome is a rare, lifelong genetic condition that affects the nervous system. It can cause problems with movement, balance, and muscle strength, and skills can sometimes be lost over time. Currently, there are no cure or approved treatments, partly because doctors still need to learn more about how the condition develops from year to year. The Leigh Syndrome Roadmap Project is an observational study based in Newcastle upon Tyne. It aims to follow 20 people with Leigh syndrome, from babies up to adults aged 75. Over three years, the research team will track participants' health through regular clinic visits, phone or video calls, and simple questionnaires. No experimental drugs are tested. Instead, the study collects detailed health information to build a clear picture of the condition, paving the way for future clinical trials and potential new treatments.
एक नजर में
यह अध्ययन किस बारे में है?
Leigh syndrome is a rare condition linked to the body's mitochondria, which act like tiny batteries inside our cells. When these batteries do not work properly, organs that need a lot of energy—especially the brain and muscles—can struggle. This can lead to difficulties with balance, walking, and speech, and can cause people to lose skills they once had. Symptoms often start in babies or young children, but they can also appear in teenagers and adults. Because it is so rare, doctors do not yet have a complete picture of how it changes over time.
This study, known as a 'natural history study', aims to change that. Researchers at Newcastle Hospitals want to carefully observe and record the health of people living with Leigh syndrome. Rather than testing a new medicine, the team will closely follow 20 participants over several years to see how their symptoms progress.
Understanding the natural course of a rare disease is an essential step toward finding effective treatments. By mapping out how Leigh syndrome affects people of different ages, scientists hope to discover the best ways to measure whether future treatments are working. The findings from this project will help doctors worldwide improve everyday care and design stronger, more focused clinical trials in the future.
मुख्य निष्कर्ष
- A UK observational study looking at how Leigh syndrome changes over time.
- Open to 20 participants aged between 0 and 75 with a confirmed genetic diagnosis.
- No new medicines are tested; the focus is on tracking health and symptoms.
- Involves hospital visits in Newcastle every 3 to 6 months, plus quarterly questionnaires.
- The findings will help scientists design better clinical trials and treatments in the future.
कौन पात्र हो सकता है?
The study is open to children and adults aged between 0 and 75 years who have a confirmed genetic diagnosis of Leigh syndrome or a Leigh syndrome spectrum disorder. People of all genders can take part.
Because this condition affects both children and adults, consent can be given in different ways. Parents or legal guardians will give consent for children under 16. For adults who are unable to make their own decisions due to their condition, a family member or caregiver can act as a representative to help decide if taking part is in their best interests.
People cannot take part if their symptoms are caused by another genetic condition, such as Down's syndrome, rather than a primary mitochondrial disorder. The study team also needs to make sure that taking part is practical and safe, so anyone who is unable to complete the routine checks may not be able to join.
क्या यह अध्ययन आपके लिए उपयुक्त हो सकता है?
यह देखने के लिए इन त्वरित प्रश्नों का उत्तर दें कि क्या आप पात्र हो सकते हैं। यह केवल एक मार्गदर्शिका है — अंतिम निर्णय शोध टीम द्वारा लिया जाता है।.
- I (or my child) have a genetically confirmed diagnosis of Leigh syndrome.
- The person taking part is aged 75 or younger.
- The condition is a primary mitochondrial disease, not another genetic condition.
- We are able and willing to travel to Newcastle upon Tyne for check-ups every 3 to 6 months.
- A parent, caregiver, or the participant can provide informed consent.
भागीदारी में क्या शामिल है?
Taking part in this study lasts for up to three years, running between March 2026 and March 2029. Participants will have check-ups every 3 to 6 months. Most visits will take place at the hospital in Newcastle upon Tyne, lasting about 1 to 2 hours. Some follow-up appointments may be done conveniently by video call or over the phone.
During visits, the research team will carry out health checks, many of which are already part of regular NHS clinic care, such as checking movement, reflexes, and general wellbeing. Every 3 months, participants or their parents and carers will also fill out a short questionnaire taking about 30 to 60 minutes. These can be completed online or on paper at home. There are no trial drugs, injections, or invasive procedures involved.
संभावित जोखिम और लाभ
स्थान (1)
- न्यूकैसल अपॉन टाइन हॉस्पिटल्स एनएचएस फाउंडेशन ट्रस्टकेवल शहरन्यूकैसल अपॉन टाइन, इंग्लैंड
सामान्य प्रश्न
Will I have to take any new or untested medicines?
No. This is an observational study. Researchers are only monitoring your health and symptoms over time; no experimental drugs are given.
Do I have to live in Newcastle to take part?
You do not need to live in Newcastle, but you will need to travel to Newcastle Hospitals every 3 to 6 months for your study appointments.
Can my child join if they are very young?
Yes. The study is open to all ages from birth up to 75 years old, provided they have a confirmed genetic diagnosis of Leigh syndrome.
How long will the questionnaires take to complete?
Questionnaires are filled in every 3 months and usually take between 30 and 60 minutes. You can do them on paper or online at home.
What happens if we want to stop taking part?
You can leave the study at any point without giving a reason. Withdrawing will never affect your regular NHS treatment or your relationship with your medical team.
और अधिक जानने के लिए कैसे पता करें
Clare Massarella
किसी अध्ययन में भाग लेने का निर्णय लेने से पहले हमेशा अपने जीपी या विशेषज्ञ से बात करें।.
भाग लेने में रुचि रखते हैं?
चर्चा
समुदाय चर्चा
हमारे फोरम द्वारा संचालित community.patient.info. कृपया सम्मानजनक रहें — यह चिकित्सा सलाह नहीं है।.