Clinical trials on Fabry disease

Fabry Disease Overview

Fabry disease is a rare genetic disorder that impacts various parts of the body, including the skin, eyes, kidneys, heart, and nervous system. It is classified as a type of lysosomal storage disorder. The root cause of Fabry disease is the deficiency of the enzyme alpha-galactosidase A (α-Gal A), which is crucial for the breakdown of a specific type of fat called globotriaosylceramide (Gb3 or GL-3). The deficiency of α-Gal A leads to the accumulation of GL-3 in the cells, which in turn causes the wide range of symptoms associated with this disorder.

The symptoms of Fabry disease can vary widely among individuals, even among members of the same family. Common symptoms include episodes of pain, particularly in the hands and feet (acroparesthesias), clusters of small, dark red spots on the skin known as angiokeratomas, a decreased ability to sweat (hypohidrosis), and problems with the gastrointestinal system. Over time, the progressive accumulation of GL-3 can lead to more serious complications such as kidney damage, heart disease, and stroke. Fabry disease affects both males and females, but males typically experience more severe symptoms.

Diagnosis of Fabry disease involves a combination of clinical evaluation, family history, and specific tests, including enzyme assays to measure the activity of α-Gal A in the blood and genetic testing to identify mutations in the GLA gene. Treatment options for Fabry disease have expanded in recent years and now include enzyme replacement therapy (ERT) to supplement the deficient enzyme and chaperone therapy, which enhances the activity of the residual enzyme. These treatments can help manage symptoms, slow disease progression, and improve quality of life for those affected by Fabry disease.

Prognosis for Fabry Disease: Understanding the Long-Term Outlook

Fabry disease is a rare genetic disorder that leads to the buildup of a specific type of fat in the body’s cells. The long-term prospects for individuals with Fabry disease can vary widely, depending on the severity and progression of the condition. Generally, there may be a range of symptoms experienced that can affect different organs and tissues, potentially leading to more serious health issues over time. Early diagnosis and management are crucial in improving the quality of life and slowing disease progression. Life expectancy for individuals with Fabry disease has historically been reduced, particularly in men with the classic form of the disease. However, with advancements in medical understanding and supportive care, there is often the ability to manage symptoms more effectively, which may contribute to a better prognosis. It is important to note that experiences with the disease can differ significantly, and ongoing research continues to shed light on the variability of outcomes for those affected by Fabry disease.

Complications in Fabry Disease

Fabry disease may lead to several health issues that affect daily life. Heart problems are common, potentially causing chest pain or irregular heartbeats. Kidney damage may occur, which can disrupt the body’s ability to filter waste, leading to further health concerns. The disease may also affect the skin, with clusters of small, dark red spots often appearing. Pain episodes, known as crises, may be triggered by factors like temperature changes, stress, or fatigue, making it hard to maintain comfort. Digestive issues might arise, causing discomfort and affecting nutrition. Hearing loss and problems with the eyes, such as cloudiness in the front part of the eye, can interfere with communication and daily tasks. Lastly, the risk of stroke is increased, which can have a significant impact on mobility and cognitive functions, altering the quality of life.

Treatment Methods for Fabry Disease

For the management of Fabry disease, several non-clinical trial options are recommended. Dietary adjustments can play a crucial role; the incorporation of heart-healthy foods and the reduction of fat intake may help in managing symptoms. Regular physical activity, tailored to individual capabilities, supports overall health and may alleviate some disease-related discomforts.

  • Pharmacotherapy, including pain relievers and medications to stabilize heart rate and blood pressure, is often prescribed. These drugs aim to manage symptoms and improve the quality of life. It is important to follow healthcare providers’ guidance on medication use.
  • Modern technology also offers tools for symptom management. Wearable devices can monitor vital signs and activity levels, helping in maintaining an appropriate exercise regimen and tracking health metrics. Smartphone apps can assist with medication schedules and provide platforms for connecting with support groups.

The adoption of these lifestyle changes, the utilization of pharmacotherapy as directed, and the leveraging of modern technology can collectively support the management of Fabry disease. It is always recommended to consult healthcare professionals before making any significant changes to treatment plans.

  • CT-EU-00057198

    Testing Venglustat’s effect on neuropathic pain in Fabry disease

    The study is focused on testing a medication called Venglustat. It is intended for individuals who are at least 16 years old and have Fabry Disease, a condition that can lead to various types of pain, such as nerve and stomach pain. The study aims to determine whether the tablet can alleviate these pains, particularly in patients who have never received treatment or those who discontinued their treatment for approximately six months. The study duration is one year, with patients meeting the researcher every quarter. If they agree, they can continue taking the drug for an additional year after completing the first year. If not, they will have a one-month check-up following the conclusion of the first year. Additionally, the study will assess the frequency of emergency pain medication use during the six and twelve-month periods.

    • Venglustat/GZ402671
  • Testing venglustat for heart condition in Fabry disease patients

    This study is about a medicine called venglustat, and how it affects the size of the left side of the heart for people with a disease called Fabry. The trial will have men and women with Fabry disease, who will either get venglustat or the current commonly used treatments. The aim is to investigate whether venglustat can induce changes in the size of the left side of the hearts. The trial will last for 18 months, with check-ups every 3 to 6 months. After the first 18 months, patients can choose to get venglustat for 34 more months. So, the whole study could last up to 4.4 years for some people.

    • Agalsidase beta/GZ419828
    • Venglusat/GZ402671
    • Agalsidase alfa
    • Migalastat