Thousands of patients could unknowingly suffer with a rare life-threatening disease, experts have warned.
TUBB4a leukodystrophy – an incurable genetic condition that damages the central nervous system and can be deadly to babies and young children – was initially thought to only affect 200 people worldwide.
However, the latest research suggests the figure could be far higher than first thought.
According to the Cleveland Clinic in the US, leukodystrophies affect 1 in 7,663 births. With about 140m children born globally in 2021, that would mean more than 18,000 could have leukodystrophy – and almost 1,650 with TUBB4a – last year alone.
Dr Dan Williams, CEO and co-founder of biotech firm SynaptixBio, which aims to develop the world’s first treatment for the debilitating disease, said the actual number of TUBB4a sufferers could be higher still.
“One of the key issues with diagnosing a condition like TUBB4a is that it is incredibly hard to spot. It requires intensive genome sequencing and MRI scans to correctly identify,” he said.
“It can also appear similar to other more commonly-known conditions, such as cerebral palsy or multiple sclerosis. Unfortunately, it is easy to see how signs can be missed.
“It is vital that our understanding of the disease improves rapidly. While it remains a relatively rare condition, there is clearly a greater need to find a treatment than initial estimates would have us believe.”
First identified in 2014, TUBB4a leukodystrophy makes up 9% of a group of about 50 rare neurodegenerative disorders known as leukodystrophies.
Caused by a mutation in the TUBB4a gene, it disrupts signals being relayed between nerve cells in the brain.
Patients can suffer from difficulties walking, sitting up and swallowing.
They can also develop seizures, muscle contractions, hearing and speech difficulties, and uncontrollable limb movements, while others who have developed motor skills in early childhood can regress.
SynaptixBio co-founder and chief science officer Dr Michelle Teng, who diagnosed her daughter Sofia, 11, with a severe form of TUBB4a known as H-ABC, called for greater access to diagnostic testing for potential patients.
“I was very fortunate to have been able to perform the tests Sofia needed,” she said. “It is such a complex and costly process.
“We need to ensure patients with this disease are correctly tested to ensure they receive the right care.
“There are currently significant barriers for people with this condition to be diagnosed properly. That is something that needs to change dramatically over the coming years.”
Meanwhile, SynaptixBio, which launched last year, is working on a new therapy it hopes will “revolutionise” how TUBB4a leukodystrophy is treated.
Antisense Oligonucleotides (ASOs) therapy, which has previously been used to treat conditions such as Duchenne muscular dystrophy and spinal muscular atrophy, is also hoped to dramatically improve the quality of – and extend – the lives of leukodystrophy patients.
Dr Willams said the treatment had the potential to “modify the disease, increase survival rates and significantly improve motor skills development.
“The new approach provides the potential to stabilise, improve quality of life and extend life expectancy in children suffering from the condition.
“Successful prevention of leukodystrophy progression would be a revolutionary life-saving and life-enriching treatment for children around the world.”
TUBB4a leukodystrophy is caused by damaged brain function, which can lead to developmental delays in motor skills such as walking, sitting, speaking and swallowing, learning difficulties, seizures, paralysis and an early death.
Research has already begun, with the firm aiming to launch clinical trials in 2024.
“This project will change people’s lives,” Dr Williams said. “The research and development of a clinically-proven treatment for TUBB4a would be a real game-changer for patients and their families.
“There is a real chance to improve the lives of leukodystrophy sufferers. We want to ensure that dream becomes a reality.”
Taking next-generation motion from concept to reality
~ How free motion can address challenges in the pharmaceutical industry ~
If companies were to take home one lesson from the COVID-19 pandemic, it should be that flexibility is key. This statement is no less true for the pharmaceutical industry, which has been pushing for flexibility for years. With a pandemic almost behind us and the challenges of a rapidly ageing population, flexible manufacturing is needed now more than ever. In this article , Adnan Khan, manager of pharma industries at Beckhoff UK, discusses the challenges of pharmaceutical production lines and how next-generation motion can help.
While there are many tips for creating a more flexible manufacturing process, from plug-and-play robotics to single-use manufacturing, few tips focus on motion control in production lines. Motion control has the power to make production lines more flexible and efficient, but few motion control systems provide the freedom and range to maximise their benefits.
From concept to reality
In interviews conducted by Donna Ritson, president of DDR communications and Paula Feldman, senior director of Business Intelligence, 75 per cent of pharmaceutical manufacturers said they were increasing their level of automation going forward. So for those wanting to invest in optimising their production lines, where should they spend their money?
Over the years, technology has advanced, allowing the pharmaceutical industry to advance with it. However, despite the introduction of sophisticated technology, challenges still occur in the production of pharmaceutical products, such as flexibility and efficiency. The XPlanar, a first-of-its-kind planar motor system, can help address these challenges.
The XPlanar system comprises the mover, tile and control software. The magnetically driven mover is wireless, with six degrees of jerk-free movement, allowing for the technology to effortlessly levitate over the tiles, which can be moved and placed as a facility needs. With each singular mover having a bare load of up to 4.2 kg, a maximum speed of 2 m/s and an easily wipeable surface, the XPlanar is bringing the reality of next-generation motion to the pharmaceutical industry.
Flexible and efficient
Flexibility has always been an issue in the pharmaceutical industry, as traditional plant layouts make it hard to switch over or adjust equipment to produce different products. Due to a large number of sensitive chemical processes in pharmaceutical manufacturing, moving equipment around requires equipment recalibrations and strategic positioning. However, with new methods such as modular manufacturing, allowing for multiple different drug productions in one facility, these challenges are slowly being addressed.
Modular manufacturing refers to a type of manufacturing where there is no fixed equipment, meaning facilities can be broken down and rearranged as needed. As modular manufacturing is embraced, new techniques will be needed to achieve a modular facility. The XPlanar system elevates this manufacturing method to a more efficient, flexible and long-lasting one. Like with many of the equipment used for modular manufacturing, the XPlanar system can be laid out freely in a multitude of arrangements to suit the pharmaceutical facilities’ requirements.
The XPlanar system provides the pharmaceutical industry with the production flexibility needed to not only create a modular manufacturing facility but a more efficient manufacturing facility. The XPlanar system allows manufacturers to create a flexible production line with movements of 360 degrees, allowing for easy and efficient product inspection, alignment or processing.
The easy adaptability of the movers and tiles ensures the technology can last in an ever-evolving technological landscape. Using this free-moving system the pharmaceutical industry can see the benefits of next-generation motion becoming reality.
Keeping pets protected during heatwaves this summer
We’ve been lucky to have been hit with some great weather this summer, however, some days have been exceptionally hot and causing us discomfort to the point where we don’t want to leave the house! Our pets can also struggle in this heat and if not looked after correctly, can lead to life threatening issues for them.
Dr. Sarah Machell, Medical Director for Vetster, has shared her top five top tips to ensure that our pets can enjoy the summer days as much as we can.
Vetster, is a digital platform that connects licensed vets with pet owners virtually, with 24/7 online appointments, launches in the UK this summer.
1. Provide adequate rest, shade, and ventilation
Coping with high temperatures and humidity is tough enough on its own, but it’s even more difficult for pets who are exercising in direct sunlight and don’t have adequate ventilation. Limit outdoor activities to early mornings and late evenings when it’s cooler. When walking your pet, choose shady routes off the pavement. Ensure outdoor pets have shady, ventilated places to escape the heat. Keep in mind that pets also rely on evaporation for cooling, regardless of if they sweat like horses or pant like dogs, and high humidity decreases the effect of evaporation. This means your pet needs you to keep an eye on the heat index for them as well as for you. Be sure your pets have easy access to a steady supply of clean water. Pets are naturally wired to stay hydrated as long as they are healthy and avoid heavy exercise in the heat, so there’s no need to try to encourage your pet to drink more. Just make sure the water supply is in easy reach and doesn’t run dry.
2. Be wary of paws on the hot pavement!
When the weather gets extremely hot, so does the pavement—asphalt, in particular. If you’re taking your dog out for a walk, try to remember that they don’t have shoes to protect against the heat. Even though paw pads are extremely tough, hot surfaces can burn them. Consider using padded booties for their paws to create a barrier between paw pads and the hot concrete. Better yet, try to steer clear of the streets and walk on the cool grass instead. If there’s an opportunity to wade through some clean water or catch the spray from a sprinkler, that’s even better. Remember that pavement retains heat and you still need to be aware of the risks when you go for walks in the evening.
3. Look out for signs of heatstroke
Heatstroke is a very serious condition and one to look out for in your pets. As a pet parent, it’s important to be aware of your pet’s fitness level and avoid overexertion when the weather’s too hot or humid. Less athletic dogs, dogs with underlying illnesses, and brachycephalic breeds are at higher risk for developing heatstroke, so keep an extra close eye on them. Heatstroke is life-threatening, but it can be avoided if you take action to cool your pet when they show early signs of heat stress. If your dog doesn’t want to keep walking, lies down in the shade, or digs up cool dirt to lie in, those are clues they’re getting too hot. Excessive panting that doesn’t improve after a short rest is another indicator. Get out of the heat and offer water to keep the threat of heatstroke from escalating. Splash down hot ears, paws, and bellies with water to achieve more rapid cooling.
4 Never leave your pet unattended in a hot vehicle
Heatstroke can happen in the blink of an eye—it cannot be stressed enough that you should never, ever leave your pet unattended in a vehicle. This is true even if you leave the windows down for fresh air or if you think you’ll only be gone for a few minutes. Studies show that even if the outdoor temperature is 72℉ (22°C), a car can rise up to 117℉ (47°C) in only an hour. Imagine how quickly a car can become dangerously hot when outdoor temperatures are a balmy 86℉ (30°C). Even if you’re leaving your car unattended for a minute or think that leaving a window open will help – the life-or-death gamble you’re taking isn’t worth it.
Why dosage matters in menopause treatment
By Rizvan Faruk Batha MPharm, PGDip GPP, IPresc, MRPharmS, Superintendent Pharmacist of Specialist Pharmacy.
Bioidentical Hormone Restoration Therapy (BHRT) is an alternative option to traditional synthetic HRT, using bioidentical hormones to treat hormonal conditions in both men and women. BHRT is compounded medicine and put simply, means that the individualised ingredients are mixed together under the direction of a qualified prescriber’s prescription to meet the tailored needs of a patient.
For women going through menopause, compounding treatments are often prescribed later down the line, when a woman has been unable to settle on the appropriate dose of HRT with a General Practitioner, often experiencing severe side effects from either too much or too little HRT. In short, compounded menopause medication offers another route for those patients where the licensed preparation is not appropriate or hasn’t worked.
Patient-led care plays an important role in compounded menopause medicine because the patient is involved throughout the process; during the consultation with the prescribing practitioner, and with the pharmacist developing the customised dosage.
One of the biggest challenges faced by compounding pharmacies is the drugs being classified as unlicensed. For drugs to be licensed, it involves research and clinical trials to assess the efficacy, quality, and safety of the medicines, and because of this process, more often than not it is the recommended route to prescribe licensed medicines. That being said, prescribing unlicensed compounded menopause medicines may be necessary, especially when it comes to the patient’s specific need and interests and where licensed medicines have been unable to satisfactorily meet the needs of the patient or are unsuitable for them.
Utilising compounded menopause medicine as a method to enhance patient care could be beneficial for the many patients that need specific dosing or formulation requirements, but sadly more often than not we see delays to patient needs and treatment, as the rise of mass manufactured licensed medicines have grown in popularity. Compounding menopause medicine could offer huge potential for many, but prescribing practices have moved towards evidence-based medicines because of the responsibility imposed on prescribers for prescribing compounded therapies. Clinicians need to understand that even licensed products are not safe or effective for all patients particularly if the product is being used in a population that were not part of the original clinical trials for the drug.
It is important to know that compounding pharmacies and pharmacists in the UK are also regulated and licensed by the General Pharmaceutical Council (GPhC). The GPhC set standards for pharmacists and pharmacies to meet to remain on their register with the aim to protect the public and give them assurance that they will receive safe and effective care when using pharmacy services.
So even though compounded medicines are ‘unlicensed’, there is a lot of due diligence exercised by the pharmacists to ensure the products meet the safe and effective care criteria. This is generally demonstrated through the purchase of medical grade active and inactive pharmaceutical ingredients (with certificates of analysis and safety data sheets), trained staff, following and updating SOPs, audits, traceability of ingredients and products during recalls, as well as continuous learning and error reporting being supported in the pharmacy.
Ultimately, how compounded menopause medicine is viewed will depend on the knowledge and experience of the patients and professionals involved. Although the medicine is unlicensed it is important to understand that experienced clinicians and pharmacists involved in the process of making the decisions are regulated, and patients are consistently monitored during their response to the medicine. If compounded menopause medicine was integrated in the healthcare system, it could change and improve the quality of life of many patients suffering with debilitating menopause symptoms, and we hope as a pharmacy that in the future we will see a shift in how compounded medicine is viewed.