Bethesda, MDNCT04394871Now EnrollingIRB Ready

Amyotrophic Lateral Sclerosis Type 4 Clinical Trial in Bethesda, MD

Access cutting-edge amyotrophic lateral sclerosis type 4 treatment through this clinical trial at a research site in Bethesda. Study-provided care at no cost to qualified participants.

Sponsored by National Institute of Neurological Disorders and Stroke (NINDS)

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Expert Care in Bethesda

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IRB Approved

This study follows strict safety protocols and ethical guidelines

No-Cost Care

All study-related amyotrophic lateral sclerosis type 4 treatment provided free

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Why Participate?

  • No-Cost Study Care

  • Local to Bethesda

    Convenient for MD residents

  • Cutting-Edge Treatment

    Access to innovative therapies

  • Expert Medical Care

    Close monitoring by specialists

  • Possible Compensation*

    For time and travel

*Compensation varies by study. Confirm details with coordinator.

Simple Process

  1. 1Submit this form
  2. 2Phone screening
  3. 3Visit Bethesda site if eligible
  4. 4Begin participation

About This Amyotrophic Lateral Sclerosis Type 4 Study in Bethesda

Background: Amyotrophic lateral sclerosis type 4 (ALS4) is an inherited motor neuron disease. People with ALS4 have a change in the amount of RNA and DNA that bind together. This binding of RNA with DNA forms units called R-loops. Researchers want to learn how R-loops are related to ALS4. To do this, they will study people with inherited neurological conditions that may affect R-loop levels. These include ALS4, progressive external opthalmoplegia with mitochondrial deletions (PEOB2), Aicardi-Goutieres syndrome (AGS), and ataxia and oculomotor apraxia type 2 (AOA2). Objective: To learn how the binding of RNA with DNA (R-loops) is related to neurological disease. Eligibility: People age 5 and older with ALS4, PEOB2, AGS, and AOA2. Healthy relatives and nonrelatives are also needed. Design: Participants may be screened with a review of x-rays and other medical records. Healthy relative and nonrelative participants will have 1 visit. All other participants will have 4 visits over 3 years. At visits, participants will undergo some or all of the following: Medical history Physical exam Tests of muscle strength and volume and physical function Blood tests Pregnancy test (for some females) Skin biopsy of forearm Magnetic resonance imaging (MRI) Dual x-ray absorptiometry (DEXA). Some tests are optional. The MRI uses a magnetic field and radio waves to take pictures. Participants will lie on a table that slides in and out of the scanner. The scanner makes noise. They will get earplugs. The DEXA scan uses x-rays to take pictures. MRI and DEXA will be used to measure muscle, fat, and lean body mass. ...

Sponsor: National Institute of Neurological Disorders and Stroke (NINDS)

Who Can Participate

Inclusion Criteria

ALS4 RNA metabolism inclusion criteria:
Age 5 or above
Genetic diagnosis of ALS4 (heterozygous mutation in SETX)
Able to communicate well with the investigator, to understand and comply with the requirements of the study
Capacity to consent (adults) or assent (pediatric subjects) to the study Disease control inclusion criteria:
Age 5 or above
Genetic diagnosis of RNA processing defect mutation (RNaseH1, RNaseH2, recessive mutations in SETX)
Able to communicate well with the investigator, to understand and comply with the requirements of the study
Capacity to consent (adults) or assent (pediatric subjects) to the study Related, unaffected healthy control inclusion criteria:
Age 5 or above
Family history (first, second, or third degree relative) of RNA processing defect mutation (RNaseH1, RNaseH2, heterozygous or recessive mutations in SETX)
Able to communicate well with the investigator, to understand and comply with the requirements of the study
Capacity to consent (adults) or assent (pediatric subjects) to the study Unrelated, healthy control inclusion criteria:
Age 5 or above
Able to communicate well with the investigator, to understand and comply with the requirements of the study
Capacity to consent (adults) or assent (pediatric subjects) to the study Gain of function inclusion criteria:
Age 5 or above
Genetic diagnosis of mutation resulting in a gain of function mechanism (for example, heterozygous mutations in SETX or heterozygous mutations in KCC3)
Able to communicate well with the investigator, to understand and comply with the requirements of the studyCapacity to consent (adults) or assent (pediatric subjects) to the study
Capacity to consent (adults) or assent (pediatric subjects) to the study

Exclusion Criteria

ALS4 RNA metabolism exclusion criteria:
Patients with known claustrophobia, presence of pacemaker, ferromagnetic material in their body, or any other condition that would preclude MRI assessments
Pregnancy Note: An Adult RNA metabolism ALS4 Patient who meets any of the following criteria will be excluded from the lumbar puncture procedure:
PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
INR greater than or equal to 1.5, thrombocytopenia (\<70,000), or abnormal bleeding time or platelet dysfunction
History of a bleeding disorder
Use of anticoagulants
Disease control exclusion criteria: --Pregnancy
Related, unaffected healthy control exclusion criteria:
Diagnosis of neuromuscular disease or weakness on physical examination
Pregnancy Note: An Adult Related, Unaffected Healthy Control who meets any of the following criteria will be excluded from the lumbar puncture procedure:
PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
INR greater than or equal to 1.5, thrombocytopenia (\<70,000), or abnormal bleeding time or platelet dysfunction
History of a bleeding disorder
Use of anticoagulants
Unrelated, healthy control exclusion criteria:
Diagnosis of neuromuscular disease or weakness on physical examination
Patients with known claustrophobia, presence of pacemaker, ferromagnetic material in their body, or any other condition that would preclude MRI assessments
Pregnancy Note: An Adult Unrelated, Healthy Control who meets any of the following criteria will be excluded from the lumbar puncture procedure:
PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
INR greater than or equal to 1.5, thrombocytopenia (\<70,000), or abnormal bleeding time or platelet dysfunction
History of a bleeding disorder
Use of anticoagulants Gain of function exclusion criteria: -Pregnancy Note: An Adult Gain of Function patient who meets any of the following criteria will be excluded from the lumbar puncture procedure:
PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
INR greater than or equal to 1.5, thrombocytopenia (\<70,000), or abnormal bleeding time or platelet dysfunction
History of a bleeding disorder
Use of anticoagulants

Not sure if you qualify? Submit your interest and a study coordinator will help determine your eligibility.

Frequently Asked Questions

Q:Is this study available in Bethesda?

Yes, this clinical trial (NCT04394871) has an active research site in Bethesda, MD that is currently enrolling participants.

Q:Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.

Q:Will I be compensated?

Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.

Q:Can I leave the trial if I change my mind?

Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.

Still have questions? Our study coordinators are here to help.

Amyotrophic Lateral Sclerosis Type 4 Treatment Options in Bethesda, MD

If you're searching for amyotrophic lateral sclerosis type 4 treatment options in Bethesda, MD, this clinical trial (NCT04394871) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.

Our Bethesda research site is actively enrolling participants for this clinical trial. You'll receive care from experienced amyotrophic lateral sclerosis type 4 specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.

Looking for more options? Browse all amyotrophic lateral sclerosis type 4 clinical trials near you to find additional studies recruiting in your area.

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