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Networking to Find Better Treatments for Motor Neuron Diseases

By Dr. Richard Bedlack

The CReATe Consortium is an ALS Association supported strategic initiative dedicated to the discovery and validation of ALS biomarkers and understanding the relationship between the clinical presentation and genetic background of people living with ALS. Biomarkers are essential for carrying out efficient ALS clinical trials and improving diagnosis time. Here, Dr. Bedlack, CReATe Outreach and Advocacy Director, shares how CReATe is making an impact on discovering effective treatments for motor neuron diseases that includes ALS.

The National Institute of Health (NIH) defines a “rare disease” as one affecting fewer than 200,000 persons in the United States. There are about 7,000 of these rare diseases, affecting an estimated 25 million Americans. Study of these diseases is challenging for several reasons, including lack of interest by pharmaceutical companies and difficulty enrolling large numbers into studies.

In 2003, to help stimulate and optimize the study of rare diseases, the NIH Office of Rare Diseases Research (ORDR), now a part of the National Center for Advancing Translational Sciences (NCATS), established the Rare Diseases Clinical Research Network (RDCRN). Currently there are over 200 diseases being studied by the 22 research groups (consortia) of the RDCRN.

One of the RDCRN consortia, called CReATe (which stands for Clinical Research in ALS and Related Disorders for Therapeutic Development), is focused on motor neuron diseases and related conditions. CReATe is specifically trying to advance therapeutic development for sporadic and familial forms of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), primary lateral sclerosis (PLS), multisystem proteinopathy (MSP), hereditary spastic paraplegia (HSP) and progressive muscular atrophy (PMA). The CReATe consortium aims to support this goal through study of the relationship between clinical phenotype and underlying genotype, and also through the discovery and validation of biomarkers.

The CReATe consortium currently includes sites at the University of Miami, Florida; the University of Kansas Medical Center; the University of California at San Diego; California Pacific Medical Center; the University of Tübingen, Germany; the University of Texas Southwestern; the University of Texas Health Sciences Center San Antonio; the University of Iowa; the University of Virginia; Wake Forest University; and Cleveland Clinic, Ohio. The consortium is under the direction of Michael Benatar, M.D., Ph.D., of the University of Miami. Dr. Richard Bedlack, M.D., Ph.D., runs the outreach and advocacy arm. Patient advocacy groups and other partners are also a key part of CReATe; these include The ALS Association (ALSA), Muscular Dystrophy Association (MDA), Spastic Paraplegia Foundation (SPF), Association for Frontotemporal Degeneration (AFTD), PatientsLikeMe, Prize4Life, National ALS Registry and ALS Recovery Fund.

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Dr. Bedlack

The specific goals of CReATe are as follows:

  • Team Science: Promote and facilitate collaborative research in the field of ALS and related disorders
  • Trials Preparation: Establish a firm foundation for future clinical trials in homogeneous patient populations by defining phenotype (observable characteristics)-genotype (genetic code) relationships in ALS and related disorders
  • Biomarkers: Identify and develop biomarkers (both wet and dry) of disease progression that may enhance therapeutic development efforts
  • Education: Train clinician-scientists focused on therapy development for people living with ALS and related disorders
  • Relevance to Other Rare Diseases: Pioneer an innovative approach to the study of phenotype-genotype relationships that is relevant and applicable to other rare diseases
  • Outreach/Advocacy: Engage both the lay- and scientific-community stakeholders in a partnership that will enhance scientific research and therapeutic development for people living with ALS and related disorders
  • Biorepository: Develop and maintain a repository of biological samples from phenotypically well-characterized individuals, for use by Consortium members and the broader scientific community, for future biomarker development

CReATe is especially excited about our actively-enrolling study called “Phenotype, Genotype & Biomarkers in ALS and related disorders.” The goals of this broadly inclusive, 700-patient study are threefold. The first is to better understand the genetic contribution to ALS and related neurodegenerative disorders. The second is to prepare for a future of clinical trials in which potential treatments will be tested in patients who share certain characteristics such as a specific genetic cause of disease. The third is to develop biological markers that will aid testing of novel therapeutics. The first two goals will be accomplished by combining detailed information about the clinical symptoms and signs of disease (i.e. phenotype) with an in-depth understanding of an individual’s genetic make-up (genotype). The third goal will be accomplished by laboratory testing of biological samples (blood, urine and spinal fluid) that are collected from study participants. Although the study protocol does not specifically involve testing any new treatments, all study procedures are directly relevant to therapeutic development.

We are also excited about our educational offerings for patients and families, especially our virtual journal clubs. These unique webinars are designed to help patients and families understand and discuss recent scientific papers about motor neuron diseases. Papers are usually selected by polling members of CReATe Connect (our “contact registry”). They are then presented live, by one of the authors of the paper, with time for questions and answers afterward. The virtual journal club webinars are also archived on our website for those unable to attend the live presentations.

People living with ALS, FTD, PLS, MSP, HSP and PMA, as well as their family members can easily partner with CReATe by joining CReATe Connect, an RDCRN “contact registry.”  After they join with CReATe Connect, patients and family members will receive emails about educational offerings including virtual journal clubs and original content articles, and about study opportunities.  Joining CReATe Connect is easy and it is free via this link https://www.rarediseasesnetwork.org/cms/create/patients/CReATe-Connect

To learn more about the CReATe Consortium click here.

To learn more about biomarkers click here.

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