Observational Study for Pompe Disease

Recruiting at 44 trial locations

Overseen By For Patient

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Amicus Therapeutics

Disqualifiers: Investigational therapy, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

500 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial focuses on understanding Pompe disease, a rare genetic disorder affecting muscle strength and function. It aims to evaluate the long-term effectiveness, safety, and impact on quality of life of current treatments for Pompe disease. The trial includes participants who have not started treatment and those already receiving therapies such as cipaglucosidase alfa/miglustat (enzyme replacement therapy) or other enzyme replacement therapies. Eligible participants must have a diagnosis of late-onset or infantile-onset Pompe disease and must not be enrolled in another investigational therapy program. As a Phase 4 trial, this research emphasizes that the treatment is already FDA-approved and proven effective, aiming to understand its benefits for more patients.

Do I have to stop taking my current medications for the trial?

The trial does not specify if you need to stop taking your current medications. It includes both untreated patients and those already on approved treatments for Pompe disease.

What is the safety track record for these treatments?

Research has shown that the combination of cipaglucosidase alfa and miglustat is safe. Over up to two years, patients using this treatment improved their walking ability and maintained stable breathing. Importantly, these benefits occurred without any major safety issues.

This treatment is being tested for Pompe disease, a rare genetic disorder affecting muscles. Safety data from these studies suggest that the treatment is well-tolerated, with no unexpected or severe side effects. However, as this is an experimental treatment, ongoing monitoring and further studies will continue to provide more information on its long-term safety and effectiveness. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the treatments for Pompe disease in this trial because they offer new ways to manage the condition. Cipaglucosidase alfa combined with miglustat introduces a novel approach by using a two-pronged strategy: replacing the deficient enzyme and reducing the breakdown of glycogen. This dual action aims to enhance the effectiveness of enzyme replacement therapy (ERT) beyond the standard options, which typically only focus on enzyme replacement. Additionally, miglustat may improve the uptake and distribution of the enzyme, potentially leading to better results for patients. This innovative combination could address limitations of current therapies and provide improved outcomes for those living with Pompe disease.

What evidence suggests that this trial's treatments could be effective for Pompe disease?

This trial will compare different treatment approaches for Pompe disease. One arm will involve patients receiving a combination of cipaglucosidase alfa and miglustat. Studies have shown that this combination holds promise for treating Pompe disease. After 52 weeks, patients in those studies walked an average of 17 meters farther. This treatment boosts enzyme activity, helping the body break down glycogen (a type of sugar) more effectively. Over 104 weeks, patients maintained these improvements, with some even showing stable lung function. These findings suggest that this treatment can effectively manage symptoms and improve the quality of life for those with Pompe disease. ^{2 3 5 6 7}

Are You a Good Fit for This Trial?

Inclusion Criteria

You have been diagnosed with Lysosomal Acid Lipase Deficiency or Idiopathic Acute Pancreatitis, evidenced by a lack of Glucosylceramidase Enzyme Action and/or Genetic Testing.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Data Collection

Collection of data to evaluate the long-term safety, effectiveness, and impact of Pompe disease treatments

5 years

Follow-up

Participants are monitored for safety and effectiveness after data collection

6 months

What Are the Treatments Tested in This Trial?

Interventions

• Alglucosidase alfa or Avalglucosidase alfa
• Cipaglucosidase alfa

How Is the Trial Designed?

Group I: Untreated patients (those who are not currently receiving any medical therapy for Pompe disease) Experimental Treatment 1 Intervention

Group II: Other Enyzme Replacement Therapy (ERT)-treated patients Experimental Treatment 1 Intervention

Group III: Cipaglucosidase alfa/Miglustat-treated patients Experimental Treatment 2 Interventions

Who Is Running the Clinical Trial?

Amicus Therapeutics

Lead Sponsor

Trials

55

Recruited

2,700+

Citations

1.

pubmed.ncbi.nlm.nih.gov

pubmed.ncbi.nlm.nih.gov/38057636/

an open-label phase I/II study (ATB200-02) - PubMed

Cipaglucosidase alfa plus miglustat (cipa + mig) is a novel, two-component therapy for Pompe disease. We report data from the Phase I/II ATB200-02 study for up ...

2.

ir.amicusrx.com

ir.amicusrx.com/news-releases/news-release-details/new-4-year-data-pombilitir-cipaglucosidase-alfa-atga-opfoldar

New 4-Year Data for Pombiliti® (cipaglucosidase alfa-atga) ...

After 52 weeks, ERT-experienced patients treated with cipaglucosidase alfa-atga + miglustat (n=61) walked an estimated 17 meters (95% CI, 0.2, ...

3.

frontiersin.org

frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1451512/full

Cipaglucosidase alfa plus miglustat: linking mechanism of ...

STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. J ...

4.

sciencedirect.com

sciencedirect.com/science/article/pii/S2949774425014839

Cipaglucosidase alfa and miglustat for treatment of late- ...

Díaz-Manera, et al. STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa.

5.

link.springer.com

link.springer.com/article/10.1007/s00415-024-12236-0

104-week efficacy and safety of cipaglucosidase alfa plus ...

Cipa + mig treatment up to 104 weeks was associated with overall maintained improvements (6MWD, biomarkers) or stabilization (FVC) from baseline with continued ...

6.

pubmed.ncbi.nlm.nih.gov

pubmed.ncbi.nlm.nih.gov/38418563/

104-week efficacy and safety of cipaglucosidase alfa plus ...

Cipa + mig treatment up to 104 weeks was associated with overall maintained improvements (6MWD, biomarkers) or stabilization (FVC) from baseline with continued ...

7.

institut-myologie.org

institut-myologie.org/en/2024/05/22/cipaglucosidase-alfa-and-miglustat-in-pompe-disease-two-year-data/

Cipaglucosidase alfa and miglustat in Pompe disease

The results at two years show an improvement in walking ability and stabilisation of respiratory capacity thanks to the treatment. Safety was ...