Where to Find Treatment for GM1 Gangliosidosis?

What Is GM1 Gangliosidosis?

GM1 Gangliosidosis is a rare, inherited genetic disorder that affects the brain and nervous system by preventing the body from breaking down certain fats, leading to progressive neurological damage.

If you’ve never heard of GM1 Gangliosidosis before, you’re not alone. Even many medical professionals may only encounter it once or twice in their careers. For families facing this diagnosis, it can feel like being dropped into a foreign country without a map. This guide is here to help you understand GM1 Gangliosidosis in clear, human terms without overwhelming medical jargon.

Where to Find Treatment for GM1 Gangliosidosis

What Is GM1 and Are There Any Treatments Today?

GM1 gangliosidosis is a rare genetic and neurodegenerative disease caused by a deficiency of the enzyme beta-galactosidase. This leads to a toxic buildup of GM1 ganglioside and substrates in the brain and organs.

Currently, there is no approved treatment or cure that stops or reverses the disease. However, we are in a “pivotal era” of research. Today, treatment means a dual approach: Expert Symptom Management and Investigational Research.

Clinical trials have been most successful to date for Type 2 GM1 and more specifically, Type 2b GM1.  This is primarily due to the reduced severity of the juvenile subtype.  At this time, a significant unmet need is treatment of the infantile forms of GM1.  Due to the lack of newborn screening and diagnostic odysseys, development of possible treatments for infantile forms of GM1 has been significantly more challenging.

1. Finding Expert Clinical Care

Because GM1 affects multiple systems (neurological, skeletal, and organ health), families should seek care at specialized Lysosomal Storage Disease (LSD) Centers. These centers provide specialized care which includes:

  • Seizure Management: Specialized protocols using anticonvulsants, and in some cases, the ketogenic diet
  • Gastrointestinal Support: Management of feeding difficulties and nutrition.
  • Respiratory Care: To maintain respiratory health

Top Specialized Centers (U.S. & International)

  • UCSF Benioff Children’s Hospital (San Francisco/Oakland): Conducts both natural history studies and clinical trials 

  • University of Minnesota (Minneapolis): Conducts both natural history studies and clinical trials 
  • National Institutes of Health (NIH): Conducts long-term natural history studies and clinical trials

  • Additional International Hubs: Expert centers are located at the Great Ormond Street Hospital and Manchester University (UK), Caso dos Raros in  Brazil and University Hospital Heidelberg (UKHD) in Germany

2. Investigational Therapies (Clinical Trials)

Gene Therapy (Correcting the Gene)

AAV-based gene therapies deliver a working GLB1 gene to the patient’s cells.

  • Current Status (2026): Clinical trials in AAV gene therapy to date have shown safety and biochemical improvements. The National Human Genome Research Institute is currently conducting a clinical trial in Type 2 patients.  RareTx was recently formed with plans to carry forward the work originally conducted by Passage Bio.

Substrate Reduction Therapy (Reducing the Waste)

This approach uses oral medication to stop the body from making the “waste” that builds up.

  • Venglustat: Studied in GM1 patients in the secondary basket trial arm for a study by Sanofi.  The trial demonstrated reduction of GM1 ganglioside in cerebrospinal fluid in a small number of trial participants.  The primary arm of the trial failed in late-onset Tay-Sachs and the trial overall was shut down.  Development of this drug has continued in Fabry disease and Gaucher disease.  A successful completion of the trial in Gaucher disease type 3 indicates that this drug will likely be approved for Gaucher disease type 3. 
  • Nizubaglustat: As of early 2026, this is in Phase 3 clinical trials (the final stage before potential approval). It is being studied at sites globally with 40 sites being planned.  Sites are open and enrolling in the US, in Europe, and In India.

Enzyme Replacement Therapy (ERT)

Supplying the missing enzyme directly. While ERT is approved for other diseases (like Gaucher), it is still in the research and fundraising stage for GM1, led by organizations like Cure GM1.

3. How to Access These Opportunities

  1. Register with the GM1 Census: This is a global patient registry. By joining, your data helps researchers, and you can be notified if you meet the criteria for a new trial.
  2. Search ClinicalTrials.gov: Use search terms like “GM1 Gangliosidosis” or “GLB1” to see every active study worldwide.
  3. Contact Cure GM1 Foundation: They act as the primary bridge between families and the biotech companies running these trials.

References and Further Reading

FAQs

Which GM1 type has the most treatment options?
  • Currently, the trials are focused mainly on Type-2 juvenile with the highest number of active clinical trials.  The NIH gene therapy clinical trial does screen Type-2 late-infantile candidates, but late diagnoses tend to prevent meeting the trial inclusion criteria.  There are currently no clinical trials enrolling for  Type-1 (Infantile).

Generally, no. Most current therapies aim to stop or slow further progression. This is why early diagnosis is so critical.

Most clinical trial sponsors cover the cost of the investigational drug and study-related exams.  The costs covered by sponsors include travel costs such as airfare and lodging.

Not yet. It is a major area of research, but it is not currently available in a clinical trial or as an approved treatment.

No approved cure exists as of 2026.

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