Research Studies

The purpose of this natural history study is to perform a long-term follow-up of a large group of people with osteogenesis imperfecta (OI). OI is a rare disorder that causes bones to break easily. People with OI may have broken bones with little or no trauma, curvature of the spine, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. OI can range from very severe to very mild. This study will observe the progression of the disease from participants of all ages, races, and genders. We will see how often people with type I OI have vertebral compression fractures of the spine. We will follow people with all forms of OI to see how often they develop scoliosis (curvature of the spine) and how it affects lung function, ability to walk and quality of life. We will look at dental health in people with OI and how that impacts a person’s quality of life. The genetic cause of the brittle bone disease will be compared with things like severity, various features and response to treatments. The overall goal is to improve the health and quality of life of people with OI.

The purpose of this study is to determine if it is safe to use clear aligners in correcting the misalignment of teeth in people with Osteogenesis imperfecta (OI). OI can affect the shape of the face, mouth and overall quality of life. Misalignment of teeth may interfere with oral hygiene, gum health, jaw function, opening of the jaw, chewing, breathing, and speech. There is very little information on the appropriate treatment for teeth misalignment in OI. Clear aligners are transparent plastic trays that are designed to fit over the teeth. With each new tray, teeth are moved a little at a time until they reach the desired position.

To quantify the factors that contribute to restrictive physiology (cardiopulmonary insufficiency) in the OI population

The overall purpose of this study is to understand the mental health concerns, psychosocial functioning, and priority treatment needs of
individuals with OI.

To classify and describe rates of cesarean section, hemorrhage(bleeding), and fracture in
women with Osteogenesis Imperfecta (OI) in pregnancy.

The purpose of the Clinical Procedures to Support Research in ALS (CAPTURE-ALS) study is to utilize information collected in the medical record to learn more about a disease called amyotrophic lateral sclerosis (ALS) and related disorders.

Congenital cytomegalovirus (CMV) infection is common and the leading viral cause of sensorineural hearing loss (SNHL) and mental retardation in infants. Despite current treatment options, babies with symptomatic congenital CMV disease are still at risk for hearing loss and neurologic deficits. Letermovir is the first new antiviral treatment of CMV to be licensed in over two decades. Two groups will be enrolled, and letermovir will be administered for 14 days in subjects in both groups. All subjects also will receive valganciclovir as standard of care. Group 1 (n=4) will be given a single dose based on their weight of letermovir on Study Day 0, with a full PK profile obtained over the next 24 hours to verify that the selected dose does not exceed the targeted exposure. Blood specimens will be shipped within approximately 24 hours to the UAB Pharmacokinetic Lab and processed in real time in order to get results back to the study site within an anticipated 7 days. If the drug levels are acceptable, the subject begin a 14-day course of once daily oral letermovir. If the dose is not acceptable, the dose will be adjusted down in 2.5mg increments. Once 4 subjects have been enrolled in group 1, the data and safety monitoring board will review all safety and drug level data. If no concerns are identified, then 8 additional subjects will be enrolled in group 2. The group 2 subject will start the 14 day course of study medication. The dose for group will be based on the data reviewed by the safety committee for the group 1 subjects.

CEGIR is conducting this study because they want to learn more about Eosinophilic Gastrointestinal Diseases (EGIDs). As part of that goal, one area of study will compare how well a patient feels – their symptoms – with what the tissue samples look like under a microscope. The study aims to answer a series of questions, including the following: - What if the tissue looks good, but you are still experiencing symptoms? - What if the symptoms have subsided, but the eosinophil counts haven’t changed?

This is a phase 2, open-label trial testing the efficacy and safety of Zemaira in EoE. Qualifying participants will receive weekly intravenous infusions of 120 mg/kg body weight (BW) dose/week for 8 weeks for a total of 8 infusions. All participants will be followed for an additional 12 weeks after the last dose of study drug.

The study is a cross-sectional observational study designed to determine if eosinophilic gastritis (EoG) results in gastric mobility impairment.

The purpose of this study is to: (a) define novel homogeneous groups of patients with leukodystrophies and work toward finding the cause of these disorders; (b) assess the validity and utility of next-generation sequencing in the diagnosis of leukodystrophies; (c) establish disease mechanisms in selected known leukodystrophies; (d) track current care and natural history of these patients to define the longitudinal course and determinants of outcomes in these disorders; and (e) contacting subjects with specific diagnoses (or lack thereof) with information about other research studies or clinical programs that may be beneficial.

This study seeks to query the Electronic Health Record (EHR) at participating institutions in an automated fashion in order to development a large-scale library of clinically pertinent natural history data for individuals with a confirmed diagnosis of leukodystrophy. Automated data extraction techniques will be supplemented by traditional/manual chart abstraction approaches to ensure data integrity. Data collection and analysis methodologies will undergo face validation, inter-rater reliability, reproducibility, longitudinal stability, internal validation and construct validity under the careful oversight of the GLIA-CTN Data Integration Core (DIC) based at the Children's Hospital of Philadelphia.

The goal of this clinical project is to create a portfolio of disease-specific outcome assessments to facilitate design and execution of future therapeutic trials for adults with AMN. Specifically, investigators will determine the ability of a novel AMN rating scale to measure function, including a comparison of the trajectory between this rating scale and the Patient Reported Outcome (PRO) data obtained via RDCRN Protocol No. 8501. Finally, investigators will assess the rate of change in quantitative ataxia measures using force plate technology, and then compare this to wearable devices in enrolled individuals.

The primary objective of this research study is to identify and validate novel biomarkers in CSF, and to establish their correlation to clinical features and outcomes in specific leukodystrophies; for example, we propose to explore known protein biomarkers in AGS and AxD, including GFAP, NFL, and IP10, as well as candidate biomarkers such as inflammatory proteins including cytokines and chemokines, structural proteins, cell surface proteins, and markers of myelination and neuronal function. The study also seeks to characterize the stability of known and novel biomarkers under different shipping and storage conditions, which will allow investigators to explore the feasibility of multi-center biomarker collection procedures, with centralized processing and storage, in preparation for similar approaches in the context of future clinical trials for various leukodystrophies. Assay validity will be investigated using both intra- and inter-assay measurements.

Study personnel will perform broad outreach via social media, patient advocacy groups, academic institutions to identify subjects with MUSK myasthenia who will be willing to provide verification of laboratory diagnosis, medical and family history, and a saliva sample. Subjects will be able to contact the study personnel by website, email, phone, and mail. Once inclusion criteria are met, saliva collection kit will be mailed with a return mailer. Samples will be stored in the GW biorepository until the study is complete. Saliva will then be shipped to NIH after an appropriate material transfer agreement is approved. 

Continue the longitudinal natural history study of phenotypic and genetic features of PDC deficiencies by integration with the NAMDC Patient Data Registry and Biorepository, recruitment of a broad group of subjects, and detailed longitudinal follow-up, to identify and objective measurable clinically relevant outcomes, biomarkers, and responses to treatments.

Establish the maximum tolerable dose of L-citrulline in patients with MELAS.

Evaluate PRISM and CFN interventions in adults with primary mitochondrial disease (PMD). Develop basic statistical pilot information to develop a first efficacy study.

Long-term observation of the impact of UCDs on physical and neurological functioning, the relationship between health indicators and disease severity and the efficiency of UCD therapies.

A post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information. Carglumic acid was approved by the United States Food and Drug Administration (FDA) for treatment of acute hyperammonemia due to N-acetylglutamate synthase (NAGS) deficiency.

Study of how UCDs affect thinking, body chemistry and brain structure using magnetic resonance imaging (MRI) and behavioral testing.

The purpose of this research is to determine if silent seizures (electrographic seizures) occur during a hyperammonemic (HA) episode in patients with urea cycle disorders (UCD). Urea cycle disorders lead to increased ammonia due to problems breaking down protein. The symptoms of UCD may present at birth, childhood or adulthood (milder deficiencies) and are associated with cognitive deficits, changes in behavior, brain swelling and seizures. Sometimes the seizures are not clinically obvious, but can be picked up if a video recording and concurrent EEG is used, also known as a continuous video electroencephalogram (cVEEG). cVEEG is used in many intensive care units across the country to pick up seizures. We want to determine if having seizures due to HA leads to any adverse cognitive outcomes, and want to use the EEG to identify any changes that may be associated with that.

The purpose of this study is to measure liver stiffness and chemicals in the blood that test liver injury and function in four urea cycle disorders

We are doing this study to see how the results of two sets of tools used to measure developmental progress relate to one another and how acceptable completing each of these measures is to children and families of children with Urea Cycle Disorders. We are anxious to make longitudinal assessment (repeated observations over time) of cognition easier, quicker and more accessible for families of children with urea cycle disorders. In order to do so we want to understand the relationship between the 2 sets of measures.

The purpose of this research study is to test a new method to measure food intake using smart phone photos of your food before and after meals. We will compare the smart phone food photos to a 3-day diet record and we will measure how many calories you burn.