Latest news with #geneticDisorder
The Independent
27-06-2025
- Health
- The Independent
‘Life-changing' drug for teenager who lost mother, aunt and uncle to condition
A teenager who lost her mother, aunt and uncle to a genetic condition has become the first person in Europe to receive a 'life-changing' drug after it was approved for use on the NHS. Mary Catchpole, 19, suffers from activated PI3-Kinase delta syndrome (APDS), a rare inherited disorder that leaves people with a significantly weakened immune system. Patients with APDS are vulnerable to repeated infections and face a lifetime of antibiotics and invasive procedures to try and keep them well. Miss Catchpole's mother's side of the family has been badly affected by APDS – her mother Sarah died aged 43 in 2018, while her aunt Helen died aged 12, her uncle Edward when he was 39 and her grandmother Mary when she was 48. Now, thanks to researchers in Cambridge who identified APDS, Miss Catchpole has received a new drug to treat it at Addenbrooke's Hospital in Cambridge. The medicine, called leniolisib (Joenja), is the first ever targeted treatment for APDS and is a simple tablet taken twice a day. Miss Catchpole is a teaching assistant who lives in Great Yarmouth with her father Jimmy, 64, and brother Joe, 20, who does not have the condition. She told the PA news agency: 'I was diagnosed with APDS aged seven and it's had a big effect on my life. 'I had lots of cannulas when I was younger and lots of hospital trips. 'I had a permanent line in the side of my body when I was younger which they put medicine in regularly at the hospital. 'I wasn't allowed to do very much physical activity so I had to sit out a lot in PE at school. 'I used to be called an attention-seeker because obviously it was hidden, so no-one really believed me. 'It also stopped me from doing a lot of my dancing, which I've always loved to do. So it has been hard.' Miss Catchpole said taking the new drug is 'life-changing' as it means she can leave behind huge amounts of medication. She added: 'I feel really blessed because it's so simple to do and it doesn't take up very much time, whereas for the medication, it just takes such a long time to do. 'So it's really a blessing, but it's also obviously bittersweet because my late family members never got the chance to have it.' APDS was identified by Cambridge researchers in 2013, with Miss Catchpole's family playing a key role in its discovery. Her mother and uncle were Addenbrooke's patients and were offered DNA sequencing to see if there was a genetic cause for their immunodeficiency. Researchers identified a change in their genes that increased activity of an enzyme called PI3-Kinase delta – meaning this enzyme is effectively 'switched on' all the time. This prevents immune cells from fighting infection and leads to an abnormal immune function. The new drug works by inhibiting the enzyme, effectively normalising the immune system. Now, Miss Catchpole says she can look to the future with optimism and is excited to lead a normal life. 'I really want to become a dance teacher,' she said. 'I absolutely love my current job as a teaching assistant but I'd also like to go on some adventures as well. 'I've always felt different so it will be nice to feel like I belong. 'When I had sleepovers when I was younger and had to take all my medication with me, I didn't feel like a normal child. 'To be able to feel normal going about my day-to-day life is going to be really nice.' Until now, the only treatments for APDS patients were antibiotics for infections, immunoglobulin replacement therapy to prevent infections and organ damage, and a bone marrow or stem cell transplant. Dr Anita Chandra, consultant immunologist at Addenbrooke's and affiliated assistant professor at the University of Cambridge, said: 'It is incredible to go from the discovery of a new disease in Cambridge to a treatment being approved and offered on the NHS within the space of 12 years. 'This new drug will make a huge difference to people living with APDS.' Professor Sergey Nejentsev, from the University of Cambridge who led the research that discovered APDS, said: 'As soon as we understood the cause of APDS, we immediately realised that certain drugs could be used to inhibit the enzyme that is activated in these patients. 'Leniolisib does precisely that. I am delighted that we finally have a treatment which will change the lives of APDS patients.' Professor James Palmer, NHS England's medical director for specialised commissioning, said: 'We're delighted to see Mary become the first patient in Europe to receive this first ever targeted and approved therapy for a rare condition identified just over a decade ago – in Cambridge no less. 'This treatment could be life-changing for those affected by this debilitating genetic disorder, and this important step forward is another example of the NHS's commitment to offering access to innovative medicines for those living with rare conditions.' Experts believe the drug will work long-term in patients as long as they keep taking the tablets. Researchers are now looking at the potential for leniolisib to work on other, more common immune conditions. Patients eligible for leniolisib can be referred to Addenbrooke's for specialist review and care. Between 40 to 50 people in England are known to have APDS. The list price for leniolisib is £352,000 per person per year but the company Pharming has agreed a discount for the NHS. The team that discovered APDS included researchers from the University of Cambridge, Babraham Institute, Medical Research Council (MRC) Laboratory for Molecular Biology, and Addenbrooke's, with funding from Wellcome and the National Institute for Health and Care Research (NIHR).
Malay Mail
10-06-2025
- Health
- Malay Mail
Living with HED: Unable to sweat, shadowed by stigma
KUALA LUMPUR, June 11 — Born with the rare genetic condition Hypohidrotic Ectodermal Dysplasia (HED), Mohamad Syafiq Zulkarnain has grown accustomed to the curious stares he often attracts. While he has come to terms with his distinctive appearance — marked by sparse hair and widely spaced, pointed teeth — these features are not his greatest concern. What troubles him most is the relentless heat he must endure every day. 'HED prevents my body from producing sweat, which exposes me to the risk of heat stroke if my body temperature exceeds the normal range. So I have to frequently wet my body and avoid staying out in the sun for too long,' the 35-year-old man told Bernama recently. HED is a genetic disorder that affects the development of ectodermal tissues such as skin, hair, teeth, and sweat glands. According to the World Health Organisation, HED is among more than 7,000 rare diseases identified so far and affects about 3.5 to 5.9 per cent of the global population. However, HED patients in Malaysia face even greater challenges due to a lack of medical specialists to manage this incurable condition. This has led to delayed diagnoses, which in turn increases life-threatening risks. Early diagnosis Mohamad Syafiq, the eldest of four siblings, said he was fortunate that his mother, who worked in healthcare, recognised early on that something was amiss when he was still a baby. 'When I was a baby, my mother and grandmother noticed that I was always fussy in hot weather, crying every night, and only calm when I slept shirtless under a fan. 'They also noticed I would tire easily in the heat, did not sweat, and still had no teeth by the age of two. That was when they began seeking a diagnosis for my condition,' he said, adding that his first tooth only appeared when he was two and a half years old. This early diagnosis allowed his family to take preventive steps, especially during hot weather — measures that ultimately saved his life. 'I once lost a fellow HED patient to heat stroke during an outdoor activity. Like me, he couldn't sweat, and his body temperature spiked suddenly during a hike,' he said, adding that the incident made him extra cautious. This is why Mohamad Syafiq, who hails from Seri Manjung, Perak, doesn't mind the odd looks he gets when he sprays himself with water, even in public. 'I always carry a wet towel and a spray bottle wherever I go. The water spray acts as 'artificial sweat' to help cool me down when my body temperature rises,' he explained. His inability to sweat also makes his skin prone to severe dryness and eczema, requiring him to routinely apply moisturising lotion and steroid cream. He also has to be careful about what he eats due to his dental condition. 'I can't eat hard foods like nuts or chewy foods. Sometimes my speech is unclear. Many patients need special dentures or implants to overcome this limitation,' he added. Mohamad Syafiq Zulkarnain, the eldest of four siblings, said he was fortunate that his mother, who worked in healthcare, recognised early on that something was amiss when he was still a baby. — Bernama pic Stigma Recalling his school days, Mohamad Syafiq said that unlike his peers, he couldn't participate in sports and was given 'special treatment' — such as being seated in a classroom near the toilets so he could cool down and wet his body more easily. 'I rarely joined outdoor or sports activities that lasted long in the sun, due to the risk of heat stroke. Sometimes classmates thought I was the teachers' 'favourite' because of this,' he said. The stigma has followed him into adulthood. Even with a degree, finding a job has been difficult. 'I was unemployed for a long time because it was difficult to find a job suited to my condition. I often failed interviews as employers struggled to understand my speech, and when I explained my HED, they assumed I wasn't strong or productive enough,' said the holder of a Master of Science in Information Management from Universiti Teknologi MARA, who now works as a freelancer. The stigma isn't limited to the public; it also exists among professionals. 'I was once told that my life wasn't 'interesting enough' to be featured in the media because I didn't 'look bad enough',' said Syafiq, who also serves as a coordinator for the HED support group under the Malaysian Rare Disorders Society (MRDS). He added that public awareness of rare genetic diseases, including HED, is very low, with some patients only diagnosed in adulthood — missing the chance for early treatment and support. Strengthening the treatment system Meanwhile, Clinical Geneticist and Paediatric Consultant Dr Tae Sok Kun said one of the biggest challenges for patients with rare genetic diseases like HED is getting an accurate diagnosis early. 'I see this delay in getting an accurate diagnosis as a 'diagnostic odyssey' — a long and exhausting journey emotionally, mentally, and financially. 'Many parents don't realise that symptoms like delayed tooth growth or lack of hair are important signs. They think it's just normal delay and don't seek early treatment,' said the specialist from the University Malaya Medical Centre (UMMC). She added that Malaysia also lacks specialists — currently only around 13 to 15 clinical geneticists nationwide — and the referral system is still unstructured. 'In fact, many general doctors themselves don't know where to refer cases like HED, which shows an urgent need to strengthen the referral structure and early exposure to rare diseases in medical training,' she said. 'In terms of treatment, HED is a genetic disease with no cure, but early interventions and symptomatic treatment can help improve patients' quality of life. Managing body temperature is critical since patients are prone to hyperthermia due to a lack of sweat glands. Skin treatment, eye dryness management, nutrition, and activity monitoring are also recommended,' she said. The situation is further complicated by the fact that genetic testing needed to confirm a diagnosis still has to be sent overseas, adding cost and delaying treatment, said Dr Tae, noting that while Malaysia has basic facilities, local capacity remains insufficient. Social support Dr Tae also emphasised the importance of genetic counselling for at-risk families, as well as the use of technologies such as Preimplantation Genetic Diagnosis (PGD) through In Vitro Fertilisation (IVF) to prevent the transmission of the HED gene to future generations. This counselling, she said, not only helps couples understand their risks and options, but also provides critical emotional support in facing this genetic challenge. With this approach, it is hoped that new cases can be reduced, thereby improving the quality of life for patients and their families in the long term, she added. In addition to medical challenges, HED patients also face a lack of social support, with most relying on general organisations like MRDS, which covers various rare diseases. Dr Tae also noted that the physical appearance of HED patients — such as sparse hair and missing teeth — has a significant psychosocial impact. 'Although patients' intellectual ability is normal, their appearance often leads to misunderstanding and marginalisation, causing emotional distress. In fact, there have been cases where patients required psychiatric treatment and incidents of suicide due to prolonged social pressure,' she said. Dr Tae further explained that although the government has listed rare diseases including HED in its official registry, related policies are still in draft form, hindering the allocation of special funding for treatment and support. 'Treatments like dental implants, which are vital for HED patients, are not fully covered by the government. Treatment costs can run into the thousands of ringgit, which is a heavy burden for patients and families,' she added. Another burden is that most health insurance providers do not cover congenital conditions. Dr Tae stressed that it is time for the government to take a systemic approach in managing rare diseases — covering policy, specialist training, social support, and financial protection. 'While the focus is often on major diseases like diabetes and cancer, the voices of rare disease patients can no longer be ignored,' she said. As for Mohamad Syafiq, he simply hopes the government will help provide treatment and targeted support for people like him — including job opportunities. 'We don't want sympathy, just a fair chance to be independent and contribute,' he said.
BBC News
09-06-2025
- Health
- BBC News
Mum 'reassured' over Batten disease drug access decision
"To know that he will have that treatment now for the rest of his life is incredible, it's so reassuring."Emily's four-year-old son, Max, from Spinkhill, near Killarmarsh in Derbyshire, has CLN2 Batten disease, a rare degenerative genetic disorder that causes a decline in a child's ability to walk, speak and is symptom-free and has been receiving Brineura, the only approved treatment that slows the condition's progress, since he was access to the drug, which costs over £500,000 per patient per year, had been due to expire at the end of May, however an agreement was reached allowing existing patients to continue to have it. However, it has not been recommended for future patients diagnosed beyond the end of 2025 "due to its high price and the limited evidence of long-term effectiveness", said the National Institute for Health and Care Excellence (NICE). Max goes to Manchester Children's Hospital every two weeks to receive treatment."He has to stay on the bed for four hours, but because he's had this treatment since he was a baby he doesn't really know any different so he likes it," Emily said."He says he's 'going to get his medicine' and sees the doctors."His dad, James, said Max receiving the treatment from a young age "has been absolutely key in the happy little boy that you see".He added: "He's progressing amazingly well in terms of his abilities."He's still symptom-free in terms of Batten disease, so it's a real success for the drug." Max's older sister, Holly, also has Batten disease and had been receiving Brineura as part of her the six-year-old was diagnosed later in life and the family felt she was not getting as much benefit from the drug as her symptoms increased and agreed it should be said: "Holly was on the treatment for around 12 months, but in that time her condition progressed and she started to lose more and more of her abilities."Within the space of a year, she'd gone from being a relatively normal and happy four-year-old to not being able to walk, losing all of her speech and losing her ability to eat and swallowing normally." Emily and James's youngest child, four-month-old Rory, was born after the couple underwent in vitro fertilisation were screened in advance to check if the condition might be passed on again and, as a result, Rory does not have Batten said: "We were lucky to get four embryos that were unaffected and Rory was the first one that we transferred, so he's a healthy baby."On the decision to stop the use of Brineura for children not yet diagnosed with Batten disease, NICE said: "This committee took into account the condition's rarity, severity and the effect of cerliponase alfa [the drug marketed as Brineura] on quality and length of life."But using the proposed price of the medicine, the most likely-cost effectiveness estimate is not within what NICE considers an acceptable use of NHS resources."So, cerliponase alfa is not recommended."In response, the Batten Disease Family Association said: "Whilst this is naturally disappointing, it is important to note that this is not NICE's final guidance on the future of Brineura on the NHS."The NICE committee will meet again in July to consider evidence and consultation feedback in relation to whether patients not currently diagnosed with Batten disease could receive the drug in future.
Health Line
19-05-2025
- Health
- Health Line
Ask the Expert: When Is the Right Time to Treat Dupuytren's Contracture?
The genetic disorder affects the palmar fascia, the thick layer of tissue found in the palm of the hand. Treatment is dependent on an individual's symptoms and quality of life. Dupuytren's disease is a disorder that can lead to Dupuytren's contracture over time. The exact cause of Dupuytren's disease, as well as the contracture, is unknown. It is a genetic disorder, however, that is often inherited. There are many risk factors that can contribute to developing Dupuytren's disease and ultimately Dupuytren's contracture. Dupuytren's disease is a disorder of the palmar fascia. The palmar fascia is a thick tissue layer in the palm of the hand that protects the muscles, tendons, nerves, arteries, and veins in the hand. This tissue begins to undergo changes that lead to contractures. The process starts with overstimulation of a pathway that regulates cell growth. Cells called fibroblasts that make up the fascia are responsible for producing proteins like collagen, which give tissues their strength and flexibility. These cells are activated and change into myofibroblasts. These myofibroblasts produce excess collagen as they are typically activated as a stress response for tissue healing. In Dupuytren's, however, this excessive collagen formation leads to nodules. Growing nodules form cords, which are thickened bands that can extend into the fingers. These cords pull the fingers into a fixed flexed position most commonly at the knuckles and at the middle joint (proximal interphalangeal joint). This happens most frequently in the ring and little finger. This 'flexion contracture' can lead to difficulty gripping objects, placing the hand flat, or shaking hands. What causes Dupuytren's contracture? The exact cause of Dupuytren's contracture is unknown. It is a genetic disorder that is often inherited. Certain risk factors can contribute to the development of Dupuytren's disease, and, ultimately, Dupuytren's contracture. Are there increased risk factors? Research published in 2001 indicates Dupuytren's disease mainly affects people from Scandinavia, Great Britain, Ireland, parts of France, Germany, and the Netherlands. It also appears to be an inheritable condition. Canadian Robert McFarlane published a preliminary report in 1985 that evaluated the family history of 812 people with DD. Findings showed that 68% were of Northern European ancestry. Research indicates an association with Ledderhose disease which is a similar phenomenon that occurs in the foot with the plantar fascia and Peyronie's disease which affects a connective tissue layer in the penis. There is also an association with the use of vibratory tools. For workers exposed to repetitive handling tasks or vibration, the risk of contracting Dupuytren's disease is three times higher. To date there have been no studies to prove that these tasks caused the disease — but there is an association. Some other risk factors include: having diabetes smoking alcoholism HIV vascular disease How is Dupuytren's contracture diagnosed? The diagnosis can be made by physical examination. No imaging is needed. The history of a typically painless loss of extension of the fingers is sufficient to make the diagnosis. The presence of nodules, skin puckering, or cords can also aid in the diagnosis. Does Dupuytren's contracture need treatment? Without treatment, disease progression occurs in about 50% of patients. Spontaneous improvement is rare. About 10% to 15% of patients will have no progression. Roughly 70% will have gradual progression over the years leading to contractures. Rapid progression is rare but can occur when patients present at younger ages. Therapy is palliative as there is no cure for the condition. When does Dupuytren's contracture need treatment? Indications for treatment are based on the effects of the disease and on the patient's quality of life. Patients who cannot fully flatten their hand against a table (positive tabletop test) and those with a flexion of about 30° at the knuckle or 15° to 20° at the middle finger joint typically opt for treatment. What is the importance of early treatment? Currently, there are no completed studies that prove that early treatment can slow disease progression. However, there is promising research on the effects of anti-tumor necrosis factor therapy. Tumor necrosis factor (TNF) plays a role in increased collagen formation. Radiotherapy has also been proposed to slow disease progression, though there remains a concern for the potential long-term adverse effects of radiation exposure. What are the treatment options? Treatments for Dupuytren's disease include conservative management, collagen injection, and surgery. In fact, there are a number of nonsurgical treatment options to consider. Mild disease Observation is appropriate for individuals with painless, stable disease with no impairment in function. Physical therapy and occupational therapy can help maintain range of motion during early stages of the disease. Those who have mild symptoms from nodules early on in the disease may benefit from modifying the tools that they are using — if applicable. Using gloves with padding across the palm or using pipe insulation around handles might be helpful. Patients with persistent or progressive symptoms might benefit from glucocorticoid (cortisone) injections if tenderness is present. This can occur in nodules or if the protective layer around the tendon becomes inflamed (tenosynovitis). For patients with flexion contracture, options include collagenase injection, percutaneous needle aponeurotomy, and open fasciectomy. Collagenase injection Collagenase comes from a bacterium called Clostridium histolyticum, which produces an enzyme that breaks down collagen. Collagenase is injected directly into a cord, and the affected digit is manipulated under local anesthesia 24 to 48 hours after the injection. Night splints are recommended for 6 months after the procedure. The likelihood of full or nearly full correction is higher for patients with less severe contracture (less than 50°) or with early stage disease. Research indicates collagenase injections have resulted in a 75% contracture reduction. Research shows mixed results regarding recurrence, including a 9% recurrence at 2 years and a 47% recurrence in 5 years. Percutaneous needle aponeurotomy Percutaneous needle aponeurotomy (aponeurosis is the palmar fascia, and aponeurotomy involves cutting the palmar aponeurosis) is a procedure where a small needle is inserted through the skin to cut the Dupuytren's cord at multiple points. The finger is then extended to rupture the weakened cord. This is done in the office like the collagenase injection. A splint is also recommended to maintain correct finger position. There is substantial improvement immediately but up to 65% recurrence within 3 to 5 years. Older research shows that when the procedure is combined with triamcinolone, patients experienced a significantly greater maintenance of correction of flexion deformity at 6 months compared to aponeurotomy alone. This procedure is typically reserved for milder contractures. External beam radiation therapy External beam radiation therapy can prevent progression and provide symptomatic benefit in patients with mild to moderate flexion deformities. While no controlled studies have been performed, in one small study, contractures regressed in over 50% of patients at 1 year and stabilized in 37% of patients. In a long-term follow-up of an average of 13 years of early stage contractures, more than 70% of patients remained stable. Roughly 60% of those in more advanced stages progressed. Surgical fasciectomy Surgical fasciectomy is mostly performed for advanced stages of disease. Surgery should be considered only with functional impairment. This procedure can be partial or total. Partial palmar fasciectomy is the removal of diseased tissue within a finger. This is indicated if there is a flexion deformity of 30° at the knuckle or 20° at the middle joint. The recurrence rate is about 20% to 40% at 5 years. Total fasciectomy is infrequently performed because it requires resection of all palmar and digital fascia, including nondiseased tissue. This is indicated if cords have formed in the digits or recurrence after a partial surgical procedure. Recurrence risk is lowest for total fasciectomy at 10% to 20% over 5-plus years. Postoperatively, patients are entered into hand therapy to help maintain range of motion. Therapy and splinting should occur for at least 3 months to prevent contractures. Benefits are seen after 6 to 8 weeks postoperatively. The postoperative management is thought to account for the majority of the positive surgical outcomes. What are the most common side effects of treatment? Steroid injection side effects include: skin atrophy at the injection site pain swelling tendon rupture Radiotherapy side effects include: skin dryness/peeling redness or irritation stiffness hyperpigmentation There is an extremely low risk of cancer at the site of radiation. Collagenase injection complications include: swelling skin tearing tendon rupture bruising Percutaneous needle aponeurotomy side effects include: mild local pain swelling skin tears bruising Surgical fasciectomy complications include: pain nerve injury damage of vessels leading to significant tissue death infection swelling scarring postoperative flare (pain, swelling, redness, stiffness) Can Dupuytren's contracture lead to other conditions, such as anxiety and depression? Dupuytren's contracture can affect quality of life and emotional well-being. Patients with contractures that affect both hands or those with significant hand disability may experience depressive symptoms. Recommended treatments Cognitive behavioral therapy is the first-line treatment for depression and anxiety related to chronic disease. It helps to reframe thoughts around the illness and to develop coping strategies. If depression or anxiety becomes significant enough to also impact daily living, there are medications that can also be recommended for treatment of these symptoms. Does Dupuytren's contracture treatment address the pain? Pain is not the most common symptom of Dupuytren's. Discomfort resulting from the stretching of the skin can be relieved by some of the treatment options. Steroid injections to alleviate pain can be prescribed for patients who have tenosynovitis or painful nodules.
BBC News
16-05-2025
- Health
- BBC News
Kettering mum's relief as treatment for rare disease is extended
A mother says she and her family can "live again" after access to her son's life-enhancing treatment for a rare genetic disorder was access to the drug Brineura, which slows the progress of Batten disease, was set to end this month but NICE and NHS England have now come to new agreement with the drug's of those who receives it is Isaac, eight, who has CLN2 Batten disease, which was diagnosed in August mother Aimee Tilley, from Kettering in Northamptonshire, said: "We know it's not a cure, we still see regression, but it's a huge amount slower, so he's gaining years, not just days or weeks." Batten disease, a rare genetic disorder, causes a rapid decline in a child's ability to walk, talk and see, and is estimated to affect about 40 children in the UK - with an average life expectancy of about 10 is the only approved treatment that slows the condition's progress. The new agreement will mean those on the drug, and those who start the treatment before the end of the year, can receive it on a permanent Tilley said: "We are extremely relieved that Isaac is going to continue to have this treatment."This black cloud that we've had hanging over us has gone. We feel like we can live again." 'We have won this battle' NICE said it and NHS England would continue to work with BioMarin, which makes the drug, on "a solution to secure access to all future patients but at the moment the treatment is not considered cost effective".Ms Tilley says her family "will not stop fighting for the children of the future".She said: "They deserve it just as much as the children now and we have won this battle, but we will win the war."Ms Tilley said Isaac was "having seizures, losing his mobility, he can still walk with a walker or walk holding our hands [and] he has now gone blind".But, she added: "He's happy. He still enjoys theme parks, going horse riding and he still does a lot of things that children of his age can do we just have to adapt them for him." Helen Knight, director of medicines evaluation at NICE, said she was "pleased" an agreement had been added that NICE and NHS England remained "committed to working with the company to try to reach a long-term deal that will give access to [Brineura] to all eligible people" after December. Follow Northamptonshire news on BBC Sounds, Facebook, Instagram and X.
