What is the mechanism of action of this treatment?

Tamoxifen, a Selective Estrogen Receptor Modulator (SERM), is being studied for its potential to improve motor and respiratory function in Myotubular Myopathy (MTM) patients. Tamoxifen works by modulating estrogen receptors, which can influence muscle growth and repair. This is particularly important for MTM patients, as the condition is characterized by muscle weakness and respiratory difficulties. By enhancing muscle strength and function, Tamoxifen may help alleviate some of the debilitating symptoms of MTM, thereby improving the quality of life for these patients.

What side effects are associated with this type of intervention?

Tamoxifen, a Selective Estrogen Receptor Modulator (SERM), is being studied for its efficacy in improving motor and respiratory function in Myotubular Myopathy. Known side effects of Tamoxifen include hot flashes, fatigue, nausea, and an increased risk of thromboembolic events. In the context of Myotubular Myopathy, other treatments may include supportive therapies such as physical therapy and respiratory support, which generally have fewer systemic side effects but are crucial for managing symptoms and improving quality of life.

What prior FDA approvals exist?

There is no specific mention of prior FDA approvals for the treatment of Myotubular Myopathy in the provided context. The trial mentioned is investigating the efficacy and safety of Tamoxifen, a Selective Estrogen Receptor Modulator (SERM), for improving motor and respiratory function in males with XLMTM. Generally, SERMs like Tamoxifen are more commonly associated with treatments for conditions such as breast cancer and gynecomastia, rather than Myotubular Myopathy.

What other types of research exist?

Currently, there are no specific alternatives to Tamoxifen for Myotubular Myopathy mentioned in the provided context. However, emerging therapies such as gene therapy and antisense oligonucleotide treatments, which have shown promise in other neuromuscular disorders, may be considered as potential alternatives. Consulting with a healthcare provider for the latest clinical trials and research updates is recommended.

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Selective Estrogen Receptor Modulator

Tamoxifen Therapy for Myotubular Myopathy (TAM4MTM Trial)

Phase 1 & 2

Waitlist Available

Led By Jame J Dowling, MD, PhD

Research Sponsored by James Dowling

Eligibility Criteria Checklist

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

Must have

XLMTM resulting from a confirmed mutation in the Myotubularin 1 (MTM1) gene

Male

Must not have

Currently enrolled in a treatment study for XLMTM or receiving treatment with an experimental therapy other than pyridostigmine

Subject has a contraindication to tamoxifen or its ingredients

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline to 15 months

Awards & highlights

All Individual Drugs Already Approved

Approved for 10 Other Conditions

Summary

This trial tests tamoxifen to see if it can improve muscle and breathing functions in males with XLMTM, a genetic disorder with no current treatments. Tamoxifen might help by making muscles stronger and healthier. Tamoxifen has been shown to correct functional, histological, and molecular hallmarks of XLMTM in mice, improving muscle strength and structure.

Who is the study for?

This trial is for males with a genetic muscle condition called XLMTM, confirmed by a specific gene mutation. Boys and men aged 2 years and older can join if they agree to follow the study rules. They must not have other diseases that could confuse results or be on certain medications like SSRIs, nor should they have had recent surgery or plan one soon.

What is being tested?

The study tests Tamoxifen (ApoTamox 10mg) against a placebo to see if it improves muscle and breathing functions in patients with XLMTM. It's randomized, meaning participants are put into groups by chance, double-blinded so neither doctors nor patients know who gets what treatment until after the study ends.

What are the potential side effects?

While not specified here, common side effects of Tamoxifen may include hot flashes, mood swings, blood clots, and vision problems. The exact side effects experienced in this trial will be monitored closely due to the unique patient population.

Eligibility Criteria

Inclusion Criteria

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

Select...

I have a confirmed MTM1 gene mutation causing my condition.

Select...

I am male.

Exclusion Criteria

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

Select...

I am currently in a study for XLMTM or on an experimental treatment not including pyridostigmine.

Select...

I cannot take tamoxifen due to allergies or side effects.

Select...

I have had blood clots in the past.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline to 15 months

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline to 15 months

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline to 15 months for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

10 meter walk test

Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders for subjects aged 2-4 years (CHOP INTEND)

Motor Function Measure 32 (MFM32)

Secondary study objectives

Change in pulmonary function testing scores 1) Forced Expiratory Volume in the first second

Change in pulmonary function testing scores 2) Forced Vital Capacity

Change in pulmonary function testing scores 3) Peak Cough Flow

+5 more

Awards & Highlights

All Individual Drugs Already Approved

Therapies where all constituent drugs have already been approved are likely to have better-understood side effect profiles.

Approved for 10 Other Conditions

This treatment demonstrated efficacy for 10 other conditions.

Trial Design

2Treatment groups

Experimental Treatment

Placebo Group

Group I: Drug: ApoTamox 10mgExperimental Treatment1 Intervention

Drug: Tamoxifen (tamoxifen citrate); ApoTamox 10 mg tablets orally twice daily for 6 months

Group II: PlaceboPlacebo Group1 Intervention

Placebo (no active ingredients) tablets orally twice daily for 6 months

0 / 5Eligibility 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

Tamoxifen, a Selective Estrogen Receptor Modulator (SERM), is being studied for its potential to improve motor and respiratory function in Myotubular Myopathy (MTM) patients. Tamoxifen works by modulating estrogen receptors, which can influence muscle growth and repair. This is particularly important for MTM patients, as the condition is characterized by muscle weakness and respiratory difficulties. By enhancing muscle strength and function, Tamoxifen may help alleviate some of the debilitating symptoms of MTM, thereby improving the quality of life for these patients.

Lack of benefit of allopurinol in Duchenne dystrophy.Effects of 6-mercaptopurine treatment on the membrane potentials of rat skeletal muscle fibers.Clenbuterol-induced fiber type transition in the soleus of adult rats.