Fosigotifator for Cree Leukoencephalopathy

Age: Any Age

Sex: Any

Trial Phase: Phase < 1

Sponsor: Genevieve Bernard

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

Compensation: Varies

Number of Visits: Unknown

Duration: 2 years

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a new treatment called fosigotifator (FGT) for Cree Leukoencephalopathy (CLE), a serious brain disorder primarily affecting the Cree population in Northern Quebec. CLE causes the brain's white matter to break down, leading to severe neurological issues and early death. The trial aims to determine if FGT can slow or stop this damage and improve patients' lives. It is open to patients with a confirmed CLE diagnosis who are either asymptomatic or just beginning to show symptoms. As an Early Phase 1 trial, the research seeks to understand how FGT works in people, offering participants the opportunity to be among the first to receive this new treatment.

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

Research has shown that Fosigotifator (FGT) is under investigation for its safety and efficacy in treating Vanishing White Matter (VWM) disease, which resembles Cree Leukoencephalopathy (CLE). These studies involve adults, children, and infants. The treatment remains in the early research stages, so detailed safety information is limited. However, reaching this stage indicates some safety in initial human studies. While the treatment is still being tested, its availability under compassionate use suggests potential benefits, particularly given the lack of current treatments for CLE. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Fosigotifator is unique because it targets Cree Leukoencephalopathy in a novel way. Unlike traditional treatments, which often focus on managing symptoms or slowing disease progression, Fosigotifator works by a new mechanism that directly addresses the underlying disease processes. Researchers are particularly excited because this could mean more effective management of the condition, potentially improving outcomes and quality of life for patients.

What evidence suggests that Fosigotifator might be an effective treatment for Cree Leukoencephalopathy?

Research has shown that Fosigotifator (FGT) is under investigation as a potential treatment for Vanishing White Matter (VWM) disease, which resembles Cree Leukoencephalopathy (CLE). In conditions like VWM, FGT targets the primary causes of white matter breakdown in the brain. White matter is crucial for communication between different brain regions. Early results suggest that FGT might slow or halt this breakdown. In studies on a similar condition, FGT proved safe and did not cause major side effects. By addressing the root cause of the disease, FGT aims to improve symptoms and quality of life for individuals with CLE. ^{1 2 6 7 8}

Are You a Good Fit for This Trial?

This trial is for patients with Cree Leukoencephalopathy/Vanishing White Matter Disease, a rare neurodegenerative disorder. It's specifically aimed at those who have no available treatment options and are affected by a genetic variant in the EIF2B5 gene.

Inclusion Criteria

Signed informed consent from the Legal Guardians/caregivers (parents)

I am in the early stages or before symptoms of my condition appeared.

My diagnosis of cutaneous lupus erythematosus is confirmed through molecular testing.

Exclusion Criteria

Not applicable.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Compassionate use of Fosigotifator (FGT) to slow or halt the progression of white matter degeneration

2 years

Follow-up

Participants are monitored for safety and effectiveness after treatment

1 year

What Are the Treatments Tested in This Trial?

Interventions

• Fosigotifator (FGT)

Trial Overview The drug Fosigotifator (FGT/ABBV-CLS-7262) is being tested to see if it can slow or stop the progression of white matter degeneration in CLE/VWM disease. This single-patient study falls under compassionate use and aims to improve quality of life.

How Is the Trial Designed?

Group I: N=1 trial Experimental Treatment 1 Intervention

N=1 trial

Who Is Running the Clinical Trial?

Genevieve Bernard

Lead Sponsor

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT05757141

Study Details | NCT05757141 | An Open-Label Exploratory ... Fosigotifator is an investigational drug being researched for the treatment of Vanishing White Matter disease in adult, pediatric and infant participants.

2. clinicaltrials.gov clinicaltrials.gov/study/NCT06594016

NCT06594016 | Expanded Access to Fosigotifator The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome ...

3. massgeneral.org massgeneral.org/neurology/als/news/healeyamg-announces-platform-trial-update-fosigotifator

Sean M. Healey & AMG Center Announces Update in ALS ... Overall, fosigotifator was found to be safe and well-tolerated with no meaningful safety differences between doses. Treatment emergent adverse ...

4. alzforum.org alzforum.org/therapeutics/fosigotifator

Fosigotifator The primary outcome was disease progression on the ALS-Functional Rating Scale-Revised, and mortality. Secondary outcomes included muscle ...

5. cdek.pharmacy.purdue.edu cdek.pharmacy.purdue.edu/trial/NCT05757141/

Trial | NCT05757141 Fosigotifator is an investigational drug being researched for the treatment of Vanishing White Matter disease in adult, pediatric and infant participants.

6. ctv.veeva.com ctv.veeva.com/study/phase-1b-study-to-investigate-abbv-cls-7262s-safety-tolerability-pharmacokinetics-in-vanishing-w

An Open-Label Exploratory Study of Fosigotifator in ... Fosigotifator is an investigational drug being researched for the treatment of Vanishing White Matter disease in adult, pediatric and infant participants.

7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC12615013/

Consensus-Based Expert Recommendations for Diagnosis ... We listed all known pathogenic and likely pathogenic variants in EIF2B1-5 genes reported since the 2010 last variant update up to October 2024, ...

8. clinicaltrials.gov clinicaltrials.gov/study/NCT07272525

Research Study for Single-Patient Treatment of Cree ... Fosigotifator (FGT, ABBV-CLS-7262) has been developed and its safety and efficacy are currently being studied in a multi-center Phase 1b/2 clinical trial for ...