What is the mechanism of action of this treatment?

Common treatments for Huntington's Disease (HD) often target the reduction of mutant huntingtin protein aggregates and the protection of neuronal health. For instance, PTC518 is being studied for its safety and pharmacodynamic effects, while C2-8 has shown efficacy in reducing neuronal atrophy and huntingtin aggregates. Similarly, K6PC-5 reduces toxic mutant huntingtin aggregation and activates pro-survival pathways. These mechanisms are vital for HD patients as they offer potential to slow disease progression, thereby preserving motor and cognitive functions and improving overall quality of life.

What side effects are associated with this type of intervention?

Common treatments for Huntington's Disease include tetrabenazine, deutetrabenazine, and antipsychotic medications. Tetrabenazine and deutetrabenazine, used to manage chorea, can cause side effects such as depression, drowsiness, insomnia, and parkinsonism. Antipsychotic medications, often prescribed for psychiatric symptoms, may lead to weight gain, sedation, and metabolic syndrome. While PTC518 is still under investigation, understanding the side effects of these established treatments can provide context for evaluating its safety profile.

What prior FDA approvals exist?

The FDA has approved several treatments for Huntington's Disease, primarily aimed at managing symptoms rather than altering the disease course. Tetrabenazine (Xenazine) and deutetrabenazine (Austedo) are approved for treating chorea associated with Huntington's Disease. These drugs work by depleting monoamines such as dopamine, which helps reduce involuntary movements. While PTC518 is being studied for its safety and pharmacodynamic effects, it is important to note that it represents a different therapeutic approach, potentially targeting the underlying disease mechanisms rather than just symptom management.

What other types of research exist?

Promising novel alternatives to PTC518 for Huntington's Disease patients in 2024 include: <ol> <li>Gene therapies such as AMT-130, which aims to reduce the production of mutant huntingtin protein.</li> <li></li> </ol> Antisense oligonucleotides like tominersen, designed to lower huntingtin protein levels. 3. Small molecule inhibitors targeting specific pathways involved in HD pathology, such as pridopidine, which modulates the sigma-1 receptor. 4. CRISPR-based gene editing approaches that aim to correct the genetic mutation causing HD. These alternatives are in various stages of clinical development and have shown potential in improving disease outcomes.

← Back to Search

PTC518 for Huntington's Disease

Phase 2

Waitlist Available

Research Sponsored by PTC Therapeutics

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Eligibility for HD-ISS Mild Stage 3 Group (Parts D, E, and F): A UHDRS Total Functional Capacity (TFC) score of 11 or 12, or a UHDRS TFC score of 13 with an UHDRS IS score of <100

Eligibility for HD-ISS Stage 2 Group (Parts A, B, and C): A UHDRS-Independence Scale (IS) score of 100, A UHDRS Total Functional Capacity (TFC) score of 13, A score between 0.18 and 4.93 inclusive on the normed version of the HD prognostic index (PINHD)

Must not have

Receipt of an experimental agent within 90 days or 5 half-lives prior to Screening or anytime over the duration of this study, ribonucleic acid (RNA)- or deoxyribonucleic acid (DNA)-targeted HD-specific investigational agents such as antisense oligonucleotides, cell transplantation, or any other experimental brain surgery

Any medical history of brain or spinal disease that would interfere with the lumbar puncture process safety assessments

Timeline

Screening 3 weeks

Treatment Varies

Follow Up up to 5 years

Summary

This trial is testing a new drug called PTC518 to see if it is safe and how it affects people with Huntington's Disease. The goal is to find out if PTC518 can help manage symptoms or slow down the disease.

Who is the study for?

This trial is for people with Huntington's Disease who have a specific range of scores on the UHDRS scale, confirming their functional capacity and independence. They must have a genetically confirmed diagnosis with certain CAG repeat lengths. Excluded are those who've had gene therapy for HD, recent participation in other studies, or conditions that could interfere with study procedures.

What is being tested?

The study tests PTC518's safety and its effects compared to a placebo in individuals with Huntington’s Disease. Participants will be randomly assigned to receive either the drug or placebo to determine if there are any differences in outcomes between the two groups.

What are the potential side effects?

While specific side effects of PTC518 aren't listed here, common clinical trial risks may include reactions at injection sites, potential allergic responses, general discomforts like headaches or nausea, and possibly unforeseen complications related to the experimental nature of the treatment.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

Select...

My functional abilities are slightly reduced due to my condition.

Select...

I am in Stage 2 of Huntington's disease based on specific health scores.

Select...

My Huntington's disease is confirmed with a specific genetic test result.

Select...

It seems like there might be a typo or incomplete information for this criterion. Can you please provide more details or clarify?

Select...

My Huntington's disease is confirmed with a specific genetic test result.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

Select...

I haven't taken any experimental drugs or had experimental brain surgery recently.

Select...

I have no brain or spinal conditions that affect lumbar puncture safety.

Select...

I have never received gene therapy for Huntington's disease.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ up to 5 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~up to 5 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and up to 5 years for reporting.

Treatment Details

Trial Design

4Treatment groups

Experimental Treatment

Placebo Group

Group I: PTC518 5 mgExperimental Treatment1 Intervention

Participants will receive PTC518 5 milligrams (mg) tablets once daily orally for 12 months.

Group II: PTC518 20 mgExperimental Treatment1 Intervention

Participants will receive PTC518 20 mg tablets once daily orally for 12 months.

Group III: PTC518 10 mgExperimental Treatment1 Intervention

Participants will receive PTC518 10 mg tablets once daily orally for 12 months.

Group IV: PlaceboPlacebo Group1 Intervention

Participants will receive placebo matching to PTC518 tablets once daily orally for 12 months.

0 / 8Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Common treatments for Huntington's Disease (HD) often target the reduction of mutant huntingtin protein aggregates and the protection of neuronal health. For instance, PTC518 is being studied for its safety and pharmacodynamic effects, while C2-8 has shown efficacy in reducing neuronal atrophy and huntingtin aggregates. Similarly, K6PC-5 reduces toxic mutant huntingtin aggregation and activates pro-survival pathways. These mechanisms are vital for HD patients as they offer potential to slow disease progression, thereby preserving motor and cognitive functions and improving overall quality of life.

Stimulation of Sphingosine Kinase 1 (SPHK1) Is Beneficial in a Huntington's Disease Pre-clinical Model.Neuroprotective properties of cannabigerol in Huntington's disease: studies in R6/2 mice and 3-nitropropionate-lesioned mice.Minocycline safety and tolerability in Huntington disease.