Patient registries are a great way for patients to get involved in shaping future research around their conditions. Many times, getting involved in a rare disease (or rare disorder) registry opens the doors to new research, clinical trials, and even potential treatment options. Now, there is an opportunity for families affected by Pompe disease. Sanofi Genzyme’s Pompe Registry offers parents and children the opportunity to pave the way towards a better understanding of this condition.

Pompe Disease

Pompe disease is a genetic disorder caused by GAA gene mutations. Impacting nearly 1 in 40,000 Americans, Pompe disease prevents the body from processing glycogen, a complex sugar. When glycogen builds up in the body, it can then result in muscle, tissue, and organ damage, or loss of function.

There are three main subsets:

• Classic infantile-onset occurs when symptoms appear within months of birth. The symptoms include an enlarged liver, heart problems, trouble breathing, muscle weakness, and reduced muscle tone. Without treatment, classic infantile-onset Pompe disease is usually fatal by age 2.
• Non-classic infantile-onset occurs when symptoms appear around 1 year old. Symptoms include progressive muscle weakness and slow motor development. Although this form is often fatal by early childhood, it does not usually involve heart failure.
• Late-onset occurs from late childhood to adulthood. Symptoms include progressive muscle weakness, which may cause respiratory failure.

Learn more about Pompe disease here.

Joining the Registry

For 19 years, the Pompe Registry has been collecting data on Pompe disease. In fact, it is currently the largest patient registry for Pompe disease – and will only continue to grow! Currently, the Registry is scheduled to run through 2034.

According to the Registry, it has a specific goal in mind:

Because Pompe disease is rare, it can be difficult to collect information on how the disease and its treatment affect different people. The Pompe Registry is a global, observational database for gathering this critical information.

However, patients do not require active treatment in order to participate.

Instead of using patient names, data (de-identified medical information) submitted will be under a specific identification number that only your doctor will know. You cannot enroll yourself or your child. Your doctor, on the other hand, can enroll you – so, don’t be afraid to speak with your doctor!

How the Pompe Disease Registry Works

Once enrolled in the registry, patients will attend their regularly scheduled treatments and receive their regular care. During these meetings, doctors collect information. Next, doctors send this information to the Pompe Registry.

According to the Registry, doctors should perform the following every 3 months:

• Blood and urine tests
• Weight
• Blood pressure
• Heart tests
• Chest X-rays
• Antibody levels [if treated with Lumizyme]
• Blood samples [if treated with Lumizyme]

This, combined with quality of life questionnaires, gives doctors insight into the disorder and patient experiences.

Ideal Outcomes

Ideally, the Pompe Registry will see 4 changes by its close:

• Developing better, more effective, and more targeted care recommendations for patients.
• Gaining a better understanding of who develops the disorder and any associated risk factors.
• Improving education on Pompe disease as a whole, as well as its course.
• Learning the safety, efficacy, and tolerability of treatments such as Lumizyme, the first enzyme replacement therapy granted FDA approval for the treatment of Pompe Disease.

Read the original article here.