Treatment for Charcot-Marie-Tooth Disease, Type IA

Phase-Based Progress Estimates
2
Effectiveness
3
Safety
Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA
Charcot-Marie-Tooth Disease, Type IA+4 More
Eligibility
Any Age
All Sexes
Eligible conditions
Select

Study Summary

This study is evaluating whether a higher dose of PXT3003 might be more effective than the standard dose.

See full description

Eligible Conditions

  • Charcot-Marie-Tooth Disease, Type IA

Treatment Effectiveness

Effectiveness Estimate

2 of 3
This is better than 85% of similar trials

Study Objectives

This trial is evaluating whether Treatment will improve 1 primary outcome, 12 secondary outcomes, and 2 other outcomes in patients with Charcot-Marie-Tooth Disease, Type IA. Measurement will happen over the course of at month 6 and 9.

9 or 24 months
Charcot-Marie-Tooth Neuropathy Score - version 2 (CMTNS-V2), and its sub-items
Compound Muscle Action Potential (CMAP) on ulnar nerve
Incidence of adverse events leading to withdrawal of study drug
Incidence of all TEAEs and their evaluation of type/nature, severity/intensity, seriousness, duration, relationship to study drug, and outcome
Incidence of treatment-emergent adverse events (TEAEs) related to PXT3003 during the follow-up in patients with CMT1A
Nerve conduction velocity (NCV)
Nine-hole Peg Test (9-HPT)
Overall Neuropathy Limitation Scale (ONLS) score, and its arm and leg sub-items
Quality of Life (EQ-5D)
Quantified Muscular Testing (QMT) by hand grip and foot dorsiflexion dynamometry (mean of both sides)
Sensory Nerve Action Potential (SNAP) on radial nerve
Time to walk 10 meters
Visual analog scale on self-assessment of individualized main impairment in daily activities (defined at baseline with the patient)
Month 6
Peak plasma concentration of PXT3003
Through plasma concentration of PXT3003

Trial Safety

Safety Estimate

3 of 3
This is better than 85% of similar trials

Trial Design

2 Treatment Groups

PXT3003 dose 2
1 of 2
PXT3003 dose 1
1 of 2
Active Control

This trial requires 187 total participants across 2 different treatment groups

This trial involves 2 different treatments. Treatment is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are in Phase 3 and have had some early promising results.

PXT3003 dose 2
Drug
Period 1, PXT3003: Liquid oral solution (1.2 mg/mL baclofen, 0.14 mg/mL naltrexone HCl and 420 mg/mL D-sorbitol), 5 mL bid (taken morning and evening with food) for 9 consecutive months Period 2, PXT3003: Liquid oral solution (0.6 mg/mL baclofen, 0.07 mg/mL naltrexone HCl and 210 mg/mL D-sorbitol), 10 mL bid (taken morning and evening with food)
PXT3003 dose 1
Drug
Period 1, PXT3003 : Liquid oral solution (0.6 mg/mL baclofen, 0.07 mg/mL naltrexone HCl and 210 mg/mL D-sorbitol), 5 mL bid (taken morning and evening with food) for 9 consecutive months

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: 9 or 24 months
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly 9 or 24 months for reporting.

Closest Location

Department of Neurology, Cedars-Sinai Medical Center - Los Angeles, CA

Eligibility Criteria

This trial is for patients born any sex of any age. There are 5 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
Patients previously randomized to study CLN-PXT3003-02 under placebo and dose 1 and having completed 15 months of double-blind treatment in that study, including all procedures required at the Study Termination visit (V6) or Patients previously randomized to the initial study CLN-PXT3003-02 under dose 2, prematurely discontinued following sponsor decision, and having performed all procedures required at the Study Termination visit (V6)
Patients whose V6 was performed within 4 weeks before entering the extension study or if not done must have a new baseline visit (VB)
Female patients must agree to continue using an approved method of birth control throughout the extension study
Patients must sign a written informed consent, specific to the extension study, in order to participate in this study. In case of minor children aged 16 to 18 years, both parent' and children's consents should be collected
Patients must have completed 15 months of double-blind treatment in the primary study CLN-PXT3003-02, including all procedures required at the Study Termination visit (V6)

Patient Q&A Section

What are common treatments for hmsn type iii?

"The type iii HMSN may present with a variety of symptoms. The common treatments for types ii and iii HMSN may include surgical, medical and/or neuropsychological intervention. Neurodevelopmental treatment could benefit some patients. Copyright © 2015 John Wiley and Sons, Ltd." - Anonymous Online Contributor

Unverified Answer

What is hmsn type iii?

"There is a high incidence of hmsn type iii in a subset of patients with BAV. The high concentration of Hmsn-III in all BAV patients and in controls suggests that hmsn type iii may be a BAV-specific marker." - Anonymous Online Contributor

Unverified Answer

What causes hmsn type iii?

"HMSN type iii is the commonest subtype of HMSN. Although the exact cause is not known, hmsn type iii is associated with an increased risk of developing prostate cancer." - Anonymous Online Contributor

Unverified Answer

Can hmsn type iii be cured?

"There is limited evidence of efficacy with anti-HV envelope peptides or anti-HIV envelope vaccines, but clinical workability and other considerations still need to be addressed before hmsn type iii will become a therapeutic intervention for HIV-associated malignancies like pancreatic cancer." - Anonymous Online Contributor

Unverified Answer

What are the signs of hmsn type iii?

"The first sign of an hmsn type iii-associated disease is usually pain in the lower back and/or lower back pain. The second sign of an hmsn type iii-associated disease may be the swelling of the lymph nodes surrounding the hmsn type iii-associated disease. The third sign of an hmsn type iii-associated disease is usually the enlargement of the lymph nodes surrounding the hmsn type iii-associated disease, which may look similar to the disease of the hmsn type iii cells in size." - Anonymous Online Contributor

Unverified Answer

How many people get hmsn type iii a year in the United States?

"Patients with hmsn type iii will experience a progressive decline in exercise capacity which may be related to atherosclerotic changes or an increased incidence of cardiovascular events associated with lipid metabolism abnormalities. Data from a recent study underscore the need for efficient treatment of hmsn type iii to halt its deteriorating course and minimize disability and morbidity." - Anonymous Online Contributor

Unverified Answer

Does hmsn type iii run in families?

"Although Hmsn type iii is not a single gene, we have demonstrated that Hmsn type iii mutations are found in many individuals from families. Recent findings suggest that this gene is responsible for at least some cases with an autosomal recessive inheritance." - Anonymous Online Contributor

Unverified Answer

Is treatment safe for people?

"A large number of people are treated for HCV and HIV infection every day in the United Kingdom. Although this is a high risk group for a range of diseases, no studies have been published on the safety of antiviral therapies. The National Hospital Safety Audit Study will assess the overall risks of antiviral therapy by surveying all the patients treated during the year immediately preceding the study commences, and comparing to the controls in the same cohort that did not receive antiviral therapy." - Anonymous Online Contributor

Unverified Answer

How serious can hmsn type iii be?

"Data from a recent study, we only reported 1 case of severe HRS and did not include severe HRS type iii. More information on severe HRS type iii is needed, including clinical and survival outcomes." - Anonymous Online Contributor

Unverified Answer

What does treatment usually treat?

"More research is needed to determine if specific treatments have any effect on various stages of this disease; however, a few treatments are starting to show positive outcomes. If you are looking for a similar clinical trial for promising new drugs, use the Power website to learn more." - Anonymous Online Contributor

Unverified Answer

What is the average age someone gets hmsn type iii?

"Despite early detection, the average age of death due to hmsn type iii remains around 15 years. The age of the person at death has increased over time, but with a smaller overall increase in age of death than would be expected for the increase in age of detection of this syndrome." - Anonymous Online Contributor

Unverified Answer

What are the common side effects of treatment?

"In general, the most common side effects include fatigue, nausea and weight loss with only 9% of patients experiencing diarrhea, constipation and vomiting. If treatment includes chemotherapy, [prognosis is excellent] if not treated, it is fatal. Other common side effects include allergic reactions to chemotherapy, prolonged febrile neutropenia, and shortness of breath. There is also the concern of the potential for CLL patients to develop an allergy to abacavir, an antiretroviral medication used for the treatment of HIV/AIDS. Please check if [medication lists] have been uploaded. Patients should also be aware that some side effects will only become evident many months to years after treatment." - Anonymous Online Contributor

Unverified Answer
Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
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