Migalastat for Fabry Disease

Recruiting at 6 trial locations

Overseen By Amicus Therapeutics Patient Advocacy

Age: < 18

Sex: Any

Trial Phase: Phase 3

Sponsor: Amicus Therapeutics

Must not be taking: Miglitol, Miglustat

Disqualifiers: Renal impairment, Kidney disease, others

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

Pivotal Trial (Near Approval) This treatment is in the last trial phase before FDA approval

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: Unknown

8 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a treatment called migalastat for children with Fabry disease, a genetic condition that can cause heart, kidney, and skin problems. The study aims to determine if migalastat is safe and effective for children with a specific genetic variant of Fabry disease. Children who have not recently received certain enzyme replacement therapies and have at least one complication from Fabry disease might be suitable candidates. The medication is administered every other day and adjusted based on the child's weight. As a Phase 3 trial, this study represents the final step before FDA approval, providing an opportunity to access a potentially effective treatment early.

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

The trial requires that you have not received enzyme replacement therapy (ERT) for at least 14 days before the screening visit. Additionally, you cannot take Glyset (miglitol) or Zavesca (miglustat) within 6 months before the screening or during the study. Other medications are not specifically mentioned, so it's best to discuss with the study team.

Is there any evidence suggesting that migalastat treatment is likely to be safe for humans?

Research shows that migalastat is generally well-tolerated. Studies with teenagers found no new safety concerns. In adults with Fabry disease, using migalastat for up to 30 months proved safe. While some health issues occurred, they were uncommon. Overall, previous research suggests that migalastat is safe and rarely causes serious side effects. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising for Fabry disease?

Researchers are excited about Migalastat for Fabry Disease because it offers a different approach from the current enzyme replacement therapies. Most treatments for Fabry Disease involve regular infusions to replace the deficient enzyme. However, Migalastat is taken as a tablet every other day, which can be more convenient for patients. Additionally, Migalastat works by stabilizing the body's own enzyme, potentially leading to a more natural and sustained response. This new mechanism of action could provide an alternative for those who might not respond well to traditional treatments.

What evidence suggests that migalastat might be an effective treatment for Fabry disease?

Research has shown that migalastat, the treatment under study in this trial, effectively treats Fabry disease, especially in patients with specific genetic changes. Studies have demonstrated that it can improve heart health in patients who switch from enzyme replacement therapy to migalastat. A review of multiple studies found that migalastat is both effective and easy to take as a pill. Various trials have confirmed its safety for long-term use, as it has been generally well-tolerated. These findings support its use in patients with Fabry disease, particularly those with certain GLA gene variants. ^{5 6 7 8 9}

Are You a Good Fit for This Trial?

This trial is for children aged 2 to less than 12 with Fabry disease and specific GLA variants. They must have had a complication from the disease, not received enzyme replacement therapy in the last 14 days, and agree to use contraception if applicable. Those with severe illnesses, advanced kidney issues requiring dialysis or transplant, recent experimental treatments, or allergies to migalastat are excluded.

Inclusion Criteria

I have experienced at least one symptom or lab result indicating Fabry disease.

My medical records show a GLA variant treatable with migalastat.

Subject's parent or legally authorized representative is willing and able to provide written informed consent and authorization for use and disclosure of personal health information or research-related health information, and subject provides assent if applicable

Exclusion Criteria

I have taken Glyset or Zavesca in the last 6 months or will continue to take it during the study.

Has any intercurrent illness or condition at Visit 1 (screening) or Visit 2 (baseline) that may preclude the subject from fulfilling the protocol requirements or suggests to the investigator that the potential subject may have an unacceptable risk by participating in this study

I need dialysis or a kidney transplant due to advanced kidney disease.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment Stage 1

Participants receive migalastat treatment for 3 months

12 weeks

Regular visits for PK sampling and monitoring

Treatment Stage 2

Continuation of migalastat treatment for an additional 9 months

9 months

Regular visits for PK sampling and monitoring

Open-label extension (optional)

Participants may opt into continuation of treatment long-term

Long-term

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• Migalastat

Trial Overview The study tests Migalastat HCl (20 mg) in young patients with Fabry disease. It's an open-label trial assessing safety and how well the drug works (pharmacokinetics/pharmacodynamics), as well as its effectiveness in treating symptoms related to amenable GLA variants.

How Is the Trial Designed?

Group I: Migalastat HCl 20 mg Dispersible Tablets Experimental Treatment 1 Intervention

Migalastat will be administered every other day (QOD). The initial dose will be based on body weight at baseline.

Who Is Running the Clinical Trial?

Amicus Therapeutics

Lead Sponsor

Trials

55

Recruited

2,700+

Published Research Related to This Trial

In the phase 3 FACETS trial, migalastat showed clinical benefits in patients with Fabry disease, particularly in those with the classic phenotype, where significant improvements were observed in kidney function and other health markers after 24 months.

Patients with the classic phenotype experienced a decrease in harmful globotriaosylceramide inclusions and improvements in left ventricular mass and gastrointestinal symptoms, indicating that migalastat is effective regardless of the severity of the disease.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study. Germain, DP., Nicholls, K., Giugliani, R., et al.[2022]

Migalastat (Galafold™) has been approved in the EU for treating Fabry disease in patients with specific mutations that allow the drug to restore α-galactosidase activity.

Fabry disease is caused by a deficiency of α-galactosidase, leading to harmful accumulation of certain substances in cells, and migalastat offers a targeted treatment option for this rare disorder.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Migalastat: First Global Approval. Markham, A.[2018]

Migalastat (Galafold™) is the first approved oral pharmacological chaperone for treating Fabry disease in patients with specific GLA mutations, showing significant efficacy in reducing kidney globotriaosylceramide (GL-3) inclusions and plasma lyso-globotriaosylsphingosine levels after 6 months in amenable patients.

In trials, migalastat maintained renal function and reduced cardiac mass over 18 months compared to enzyme replacement therapy (ERT), demonstrating its potential as a well-tolerated treatment option for Fabry disease.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Migalastat: A Review in Fabry Disease. McCafferty, EH., Scott, LJ.[2020]

Migalastat (Galafold®) is an effective oral treatment for Fabry disease that can improve enzyme activity in patients with specific mutations, showing benefits such as reduced left ventricular mass and stabilized kidney function.

Switching from traditional enzyme replacement therapy to migalastat has been shown to be safe and effective, with positive outcomes observed in both treatment-naive patients and those previously on enzyme replacement therapy.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Fabry Disease: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat: What Do We Know Today? Perretta, F., Jaurretche, S.[2023]

Citations

1. sciencedirect.com sciencedirect.com/science/article/pii/S1096719220301761

Long-term efficacy and safety of migalastat treatment in ... These results suggest that switching to migalastat treatment from ERT can lead to sustained improvements in cardiac structure in patients with left ventricular ...

2. clinicaltrials.gov clinicaltrials.gov/study/NCT00214500

NCT00214500 | A Study of AT1001 (Migalastat ... Study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry ...

3. revistanefrologia.org revistanefrologia.org/index.php/rcn/article/view/644

Migalastat as oral monotherapy for Fabry disease Conclusions: Migalastat was generally well tolerated in both trials. Subsequent extension publications showed similar results, confirming the ...

4. verjournal.com verjournal.com/index.php/ver/article/download/587/483/1244

Meta-Analysis On The Role Of Migalastat In Fabry's Disease In summary, this meta-analysis showed that migalastat is an effective and well-tolerated oral therapy for Fabry disease. The pooled data show ...

5. accessdata.fda.gov accessdata.fda.gov/drugsatfda_docs/nda/2018/208623Orig1s000OtherR.pdf

208623Orig1s000 - accessdata.fda.gov within CDER received an original NDA submission for Galafold (migalastat HCl) for the treatment of Fabry disease with amenable mutations.

6. nejm.org nejm.org/doi/full/10.1056/NEJMoa1510198

Treatment of Fabry's Disease with the Pharmacologic ... Our results suggest that treatment with migalastat, as compared with no treatment, improved renal function in both male and female patients ...

7. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/40215726/

Safety and efficacy of migalastat in adolescent patients with ... Treatment with migalastat was well tolerated in this adolescent population with no new or unexpected safety findings observed.

8. onlinelibrary.wiley.com onlinelibrary.wiley.com/doi/10.1111/eci.70142

Long‐term effectiveness and safety outcomes in adults with ... Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase ...

9. jmg.bmj.com jmg.bmj.com/content/early/2025/09/01/jmg-2024-110596

Long-term efficacy of migalastat in females with Fabry ... The incidence of renal, cardiac and cerebrovascular events was 0, 24.9 and 10.7 events per 1000 patient-years, respectively. Conclusion These ...