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    Lysosomal Storage Disorders (LSD) Registry Program

    The Lysosomal Storage Disorders (LSD) Registry Program is a multicenter, international, observational program for people with certain rare diseases. It is designed to track the natural history and outcomes of patients. Currently, patients diagnosed with Pompe disease may participate in this registry program.

    No experimental intervention is given as part of this program. As such, participants will be assessed clinically and receive standard-of-care treatment as determined by their physician. Physicians will determine the actual frequency of necessary assessments according to a patient’s individualized need for medical care and routine follow up.

    Principal Investigator: Shafeeq Ladha, MD

    Enrollment Contact
    Jessie Duncan
    (602) 406-1466
    [email protected]

    This study is being performed to determine how many participants may have genetic forms of amyotrophic lateral sclerosis (ALS). It may also help identify which genes most commonly relate to genetic ALS, with or without a family history of the disease.

    Blood samples from subjects with amyotrophic lateral sclerosis will be used to perform genetic tests in a research laboratory. The results of the testing will be used to determine how common genetic ALS is, and if there are any basic features of the disease that can predict a specific gene or genes as the cause of ALS.

    Participants will be asked to complete a one-time blood draw at a one-time clinic visit.

    Principal Investigator: Shafeeq Ladha, MD

    Enrollment Contact
    Nicole Turcotte
    (602) 406-4775
    [email protected]

    The purpose of this study is to determine whether magnetic resonance imaging (MRI) cytography (a type of noninvasive body scan) is useful in establishing disease severity in individuals with amyotrophic lateral sclerosis (ALS).

    MRI cytography will be compared to measures typically taken at clinic visits that measure motor neuron and cognitive functions to see if it may be related to disease status.

    In most cases, participants will attend a one-time clinic visit, though the option of two separate study visits may be available.

    Principal Investigator: Chad Quarles, PhD

    Enrollment Contact
    Jessie Duncan
    (602) 406-1466
    [email protected]

    This study is being performed to provide researchers with clinical information, combined with a wide range of biospecimens, to help identify biomarkers associated with amyotrophic lateral sclerosis (ALS), and to assess therapeutic targets. Participants will be asked to participate in four clinic visits and three telephone follow-up calls.

    At each clinic visit, participants will have blood (including DNA and RNA) collected and will be evaluated with assessment tools focusing on motor neuron and cognitive (memory and thinking) functions.

    Of the four visits in this study, three will also involve the collection of cerebrospinal fluid (CSF), and two will involve magnetic resonance imaging (MRI) cytography (a type of noninvasive body scan). Overall, participants may be in the research study for about 18 months.

    Principal Investigator: Shafeeq Ladha, MD

    Enrollment Contact
    Jessie Duncan
    (602) 406-1466
    [email protected]

    About Barrow

    Since our doors opened as a regional specialty center in 1962, we have grown into one of the premier destinations in the world for neurology and neurosurgery. Our experienced, highly skilled, and comprehensive team of neurological specialists can provide you with a complete spectrum of care–from diagnosis through outpatient neurorehabilitation–under one roof. Barrow Neurological Institute: Discover. Educate. Heal.