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Retrospective Natural History Study of LAMA2 in Infants and Toddlers (LAMA2 rTNHS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04299321
Recruitment Status : Not yet recruiting
First Posted : March 6, 2020
Last Update Posted : March 11, 2020
Sponsor:
Collaborators:
Cure CMD
The Bönnemann Laboratory, NINDS, National Institutes of Health
Oscar H Mayer, MD, Children’s Hospital of Philadelphia
The Beggs Laboratory, Boston Children’s Hospital
Information provided by (Responsible Party):
Prothelia, Inc.

Brief Summary:
This retrospective chart review study of 75-120 LAMA2-CMD patients will expand the investigators understanding of the natural history of this disease. Current and pending publications cover research performed only in ages 5-16 years; there is currently no documented natural history for patients ages 0-5 years. Data collected in this study has the potential to inform the design of future interventional studies that draw nearer to clinical trial readiness every day.

Condition or disease
Merosin Deficient Congenital Muscular Dystrophy

Detailed Description:

LAMA2-related congenital muscular dystrophy (LAMA2-CMD) is caused by a deficiency of the α2 subunit of laminin due to mutation of the LAMA2 gene.

Typical LAMA2-CMD cases present with prominent hypotonia and weakness in infancy. Congenital contractures are a common finding in the hands and feet. Weakness and contractures are slowly progressive, and most patients do not achieve independent ambulation. Facial weakness and jaw contractures disrupt normal feeding, resulting in failure to thrive. Most patients require nutrition support at an early age. Cardiac involvement is rare. In addition to neuromuscular aspects of the disorder, patients with LAMA2-CMD have central nervous system findings including prominent T2 and fluid-attenuated inversion recovery (FLAIR) abnormalities in the white matter on brain MRI. Despite the prominent changes on MRI, cognitive function is normal, although patients are at risk of seizures, which are seen in 30% of patients.

A number of potential therapies are currently in development for LAMA2-CMD. A larger prospective natural history was conducted at the National Institutes of Health in LAMA2-CMD patients, ages 5-16 years of age, testing and validating a wide variety of outcome measures suitable for use in clinical trials. However, appropriate clinical outcome measures in younger patients (ages 0-5 years) have yet to be validated.

Some treatments currently in development will almost certainly be more effective the earlier the treatment is administered. Given that there is a distinct lack of data for affected individuals less than 6 years of age, this study will be instrumental in building outcome measures appropriate in younger patients. In order to obtain regulatory authorization to launch clinical trials in affected individuals less than 6 years of age, a documented natural history for this age group must be demonstrated.

The primary objective of this study is to characterize aspects of LAMA2-CMD in ages 0-5 years through medical chart review/data extraction, and participant survey. This study aims to derive clinical trial endpoints useful in conducting interventional trials in the near future.

The secondary objectives of this study include identifying potential prognostic variables of LAMA2-CMD, identifying adverse events associated with LAMA2-CMD that warrant monitoring and potential preventative measures, and to grow the knowledge base of care standards and optimization to improve the patient's quality of life.

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: LAMA2 Retrospective Review of Medical Charts in Infants & Toddlers With LAMA2-CMD
Estimated Study Start Date : March 23, 2020
Estimated Primary Completion Date : March 23, 2021
Estimated Study Completion Date : June 30, 2021





Primary Outcome Measures :
  1. To characterize the natural history of LAMA2-CMD [ Time Frame: Birth to 5 years of age ]
    To characterize aspects of LAMA2-CMD in ages 0-5 years through medical chart review/data extraction, and participant survey. This study aims to derive clinical trial endpoints useful in conducting interventional trials in the near future.


Secondary Outcome Measures :
  1. To identify potential prognostic variables of LAMA2-CMD [ Time Frame: Birth to 5 years of age ]
    Overall analysis

  2. To identify adverse events associated with LAMA2-CMD that warrant monitoring and potential preventative measures [ Time Frame: Birth to 5 years of age ]
    Overall analysis

  3. To grow the knowledge base of care standards and optimization to improve the patient's quality of life [ Time Frame: Birth to 5 years of age ]
    Overall analysis



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   2 Years to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Infants and toddlers affected by LAMA2-CMD
Criteria

Inclusion Criteria:

  1. Patients diagnosed with LAMA2-CMD through:

    1. genetic confirmation of two (2) pathogenic mutations in LAMA2 -OR-
    2. genetic confirmation of one (1) pathogenic mutation in LAMA2, and supporting clinical phenotype based on two or more of the following: physical examination, brain imaging, muscle imaging, muscle biopsy, and creatine kinase (CK) levels (blood test)
  2. Patients may be living or deceased
  3. Patients may be male or female
  4. Patients with available medical records between 2000-2017, documenting diagnosis, observation, and treatment between ages 0-5 years and a minimum set of data covering 12-24 months during this age period.
  5. Patients with medical charts available in English
  6. Patients (or Parents of minor patients) who are able to consent to participation in English or Spanish, either directly, or through their own trusted interpreter
  7. Patients between the ages of 8-17 years who are able to provide assent to participation in English or Spanish, either directly, or through their own trusted interpreter

Exclusion Criteria:

  1. Patients not diagnosed with LAMA2-CMD
  2. Patients with no available medical records documenting diagnosis, observation, and treatment between ages 0-5 years
  3. Patients with medical charts not available in English
  4. Patients (or Parents of minor patients) not able to consent to participation in English or Spanish, either directly, or through their own trusted interpreter

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04299321


Contacts
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Contact: Justin Park, BS (562) 444-5656 ext 104 lama2study@curecmd.org
Contact: Rachel Alvarez, BS (562) 444-5656 ext 103 rachel.alvarez@curecmd.org

Locations
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United States, California
Cure CMD, Inc.
Lakewood, California, United States, 90712
Contact: Justin Park, BS    562-444-5656 ext 104    lama2study@curecmd.org   
Contact: Rachel Alvarez, BS    562-444-5656 ext 103    rachel.alvarez@curecmd.org   
Sponsors and Collaborators
Prothelia, Inc.
Cure CMD
The Bönnemann Laboratory, NINDS, National Institutes of Health
Oscar H Mayer, MD, Children’s Hospital of Philadelphia
The Beggs Laboratory, Boston Children’s Hospital
Investigators
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Study Director: Carsten Bönnemann, MD NINDS/NIH
Study Director: Reghan Foley, MD NINDS/NIH
Study Director: Oscar H Mayer, MD Children's Hospital of Philadelphia
Study Director: Alan Beggs, PhD Boston Children’s Hospital
Study Chair: Justin Park, BS Cure CMD
Principal Investigator: Gustavo Dziewczapolski, PhD Cure CMD
Study Director: Rachel Alvarez, BS Cure CMD
Publications of Results:
Other Publications:

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Responsible Party: Prothelia, Inc.
ClinicalTrials.gov Identifier: NCT04299321    
Other Study ID Numbers: PRO-LAMA2-001
First Posted: March 6, 2020    Key Record Dates
Last Update Posted: March 11, 2020
Last Verified: March 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Data will shared in a peer-reviewed publication. De-identified data will be used to inform future studies.
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Clinical Study Report (CSR)
Time Frame: Available indefinitely through publication in approximately 18 months (August 2021)
Access Criteria: Journal will have free access through PubMed

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Prothelia, Inc.:
LAMA2
LAMA2-CMD
CMD
MDC1A
LAMA2-MD
Merosin Deficient
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn