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Characterization of the Natural History of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation
In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.
Impact of Vibrotactile Stimulation Via BalanceBelt and IMU-based Gait Analysis in Individuals With Balance Disorders
This study will examine the effect of using a vibrotactile feedback implemented into a belt, at improving gait in those with gait disorders.
Registry and Natural History of Epilepsy-Dyskinesia Syndromes
The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urin…
A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases tha…
Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, …
Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia
The purpose of this study is to test the safety and preliminary efficacy of AAVrh.10hFXN to treat the cardiomyopathy associated with Friedreich's ataxia (FA). …
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
This project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression an…
Adaptive Deep Brain Stimulation Targeting the Dentate Nucleus to Treat Spinocerebellar Ataxia
The goal of this clinical trial is to test the safety of placing Deep Brain Stimulators (DBS) in the cerebellum and using electrical stimulation of that part o…
A Post-marketing, Observational, Descriptive Study to Assess the Risk Associated With Pregnancy, the Maternal Complications, and Adverse Effects on the Developing Fetus, Neonate, and Infant Among Individuals Exposed to Omaveloxolone During Pregnancy and/or Lactation
In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS. This is a drug available for doctors to presc…
Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer (BabyTEARS)
The goal of this research study is to evaluate the efficacy and safety of low-dose exemestane versus low-dose tamoxifen in post-menopausal women at high risk f…
An Observational, Multinational, Post-Marketing Registry of Omaveloxolone-Treated Patients With Friedreich's Ataxia
In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS®. This is a drug available for doctors to pres…
Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
In this study, the investigators hypothesize that studying monogenic variants with strong effect associated with severe insulin deficiency of Wolfram syndrome …