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Protocol Details

INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

17-N-0025

Sponsoring Institute

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 0
Max Age: 4

Referral Letter Required

Yes

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Neuromuscular;
Pediatric;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Muscle Myopathy;
Muscle Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Neurological Disorders and Stroke

X-Linked Myotubulary Myopathy (XLMTM) is caused by changes in a particular gene. Researchers want to learn more about this disorder so they can plan future studies. No drug is being tested in this study.

Objective:

To understand X-Linked Myotubular Myopathy that starts in childhood and learn how it changes over time.

Eligibility:

Males less than 4 years old who have XLMTM caused by the gene mutation and who need mechanical breathing support

Design:

Participants will be screened with:

-Medical history

-Physical exam

-Puberty test

-Heart tests

-Blood and urine tests

-Abdomen ultrasound

-Wrist X-ray

-Tests of breathing, speaking, and swallowing

-Questions for the parent or guardian. These will be about the child s movement and health. They will also be about quality of life of the child and parent or guardian.

Parents or guardians will be called once a month. They will be asked about the child s breathing support and any secretions from the child s nose or mouth.

Every 3 months for up to 24 months, participants will have a study visit. They will repeat some or all of the screening tests.

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Eligibility

INCLUSION CRITERIA:

All of the following inclusion criteria must be met for a subject to be eligible for participation in this study.

1. Patient has a diagnosis of XLMTM resulting from a confirmed mutation in the MTM1 gene

2. Patient is male

3. Patient is aged less than 4 years

4. Patient requires some mechanical ventilatory support (e.g., ranging from 24 hours per day full-time mechanical ventilation, to noninvasive support such as continuous positive airway pressure [CPAP] or bilevel positive airway pressure [BiPAP] during sleeping hours)

5. Access to patient s medical records

6. Signed informed consent by the parent(s) or LAR (when applicable)

7. Patient and parent(s) or LAR are willing and able to comply with study visits and study procedures

EXCLUSION CRITERIA:

Any of the following exclusion criteria will render a subject ineligible for enrollment in this study.

1. Patient is participating in an interventional study designed to treat XLMTM

2. Patient born <35 weeks gestation who is still not to term as per corrected age

3. Patient has a clinically important condition, or life-threatening disease other than XLMTM, in the opinion of the investigator

4. Patient has received pyriodostigmine or any medication to treat XLMTM within 30 days of enrollment

This is an exploratory study in a rare patient population; therefore, at the investigator s discretion, any exception to entry criteria may be discussed with the medical monitor prior to enrollment.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Carsten G. Bonnemann, M.D.
National Institute of Neurological Disorders and Stroke (NINDS)



Gilberto V. Averion
National Institute of Neurological Disorders and Stroke (NINDS)
National Institutes of Health
Building 10
Room 12N210
10 Center Drive
Bethesda, Maryland 20892
(301) 594-2760
gilbertoav@mail.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT02704273

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