Current Clinical Trials

Currently Recruiting Trials

Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

Description: The primary goal of this proposal is to collect motor and functional outcomes specific to FSHD over time. By collecting measures specific to FSHD, this will help ensure the best level of clinical care is being provided. Also, the hope is to speed up drug development by gaining a better understanding of how having FSHD impacts motor function and other health outcomes (i.e. breathing, wheelchair use, etc.) and how big a change in motor function would be clinically meaningful to those with FSHD.

A Long-term Observational Study Evaluating Exon-Skipping Therapies in Patients with Duchenne Muscular Dystrophy (EVOLVE)

Description: This is a phase 4, multicenter, prospective, observational study designed to collect both medical history data and prospective data on Duchenne Muscular Dystrophy (DMD) treatment outcomes in participants receiving eteplirsen, golodirsen, and casimersen in routine clinical practice. Participants in this study will have been prescribed eteplirsen, golodirsen, or casimersen commercially prior to entry into the study.

Characterization of the Natural History of Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

Description: In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.

Cardiopulmonary Outcomes in Osteogenesis Imperfecta (BBD7708)

Description: Although OI is typically characterized as a disease of the bone, it is perhaps more accurately described as a connective tissue disorder. Type I collagen is a major constituent of lung connective tissue. Respiratory insufficiency is the leading cause of death in patients with OI. Thus, it is important and necessary to understand the etiology of the restrictive pulmonary physiology in the OI population.

Valbenazine for the Treatment of Dyskinesia Due to Cerebral Palsy (Neurocrine)

Description: A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of Valbenazine for the Treatment of Dyskinesia Due to Cerebral Palsy (Neurocrine).

The Balance Study – Bipolar Disorder (Allergan)

Description: Bipolar depression can change the way a child or teen interacts with the world around them. If you or your child have bipolar depression, we are inviting you to take part in the Balance Study for children and teens, aged 10 to 17 years of age, who have been struggling with bipolar depression. The purpose of this study is to evaluate an investigational drug for bipolar depression in children and teens. The Balance Study will enroll about 380 children and teens with bipolar depression at participating study centers throughout North America and Europe.  

A Randomized, Double-Blind, Placebo-Controlled Study in Male Adolescents with Fragile X Syndrome (TETRA 204)

Description: A Randomized, Double-Blind, Placebo-Controlled, Two-Part Study of BPN14770 in Male Adolescents (Aged 9 To <18 Years) with Fragile X Syndrome.

A Randomized, Double-Blind, Placebo-Controlled Study in Male Adults with Fragile X Syndrome (TETRA 301)

Description: A Randomized, Double-blind, Placebo-controlled, Parallel Group Study ofBPN14770 in Male Adults (Aged 18 to 45) with Fragile X Syndrome.

ZYN002 Administered as a Transdermal Gel to Children, Adolescents, and Young Adults for Treatment of Fragile X Syndrome

Description:  A Randomized, Double-Blind, Placebo-Controlled, Multiple-Center, Efficacy and Safety Study of ZYN002 Administered as a Transdermal Gel to Children, Adolescents, and Young Adults with Fragile X Syndrome – RECONNECT

Forward-March Fragile X Study

Description:  FORWARD-MARCH is the next step following a highly successful research study called FORWARD (Fragile X Online Registry With Accessible Research Database) that was started in 2012. The FORWARD study created the largest database of information on fragile X syndrome (FXS) in the United States. Data from the FORWARD study is being used by researchers to learn about the lives of people with FXS, including medication use, behaviors, and development over time, and share findings with other researchers and clinicians.

Amgen Osteogenesis Imperfecta Study

Description:  A Phase 3, Open-label, Multicenter, Randomized Study to Evaluate the Efficacy and Safety of Romosozumab Compared with Bisphosphates in Children and Adolescents with Osteogenesis Imperfecta

Multimodal brain imaging of the neural effects of methylphenidate in patients with ADHD

Description: This research study is being conducted to evaluate how the study drug, methylphenidate, affects brain activity and brain chemistry in righthanded children ages 6-17 years with ADHD. The study consists of three onsite visits and involves neuropsychological testing along with functional MRI and magnetic resonance spectroscopy (MRS) scans after a single dose of each treatment (i.e., placebo, low dose of methylphenidate, and higher dose). Eligible participants may earn up to $300 for completing the study.

Guanfacine for Hyperactivity in Children with Down Syndrome (HYP01; HYPEbeGONE_DS)

Description: This research study is being conducted to determine the efficacy of guanfacine immediate release (GIR) for the treatment of hyperactivity/impulsivity and inattention in children with Down Syndrome (DS) ages 6-12 years old after 8 weeks of treatment. 

Cerebral Adrenoleukodystrophy (CALYX) 

Description: A Clinical Study to Assess the Efficacy and Safety of Leriglitazone in Adult Male Subjects with Cerebral Adrenoleukodystrophy 

Active, but not enrolling:

A Phase 1b, Single Ascending Dose, Randomized, Double-Blind Study to Evaluate SAR439459 for the Treatment of Osteogenesis Imperfecta in Adults

Ultragenyx Study to Assess the Efficacy and Safety of Setrusumab in Subjects with Osteogenesis Imperfecta

Description: An Operationally Seamless, Randomized Phase 2/3 Study Consisting of a Phase 2 Single-Blind, Dose-Evaluation Phase and Phase 3 Double-Blind, Placebo-Controlled Phase to Assess The Efficacy and Safety of Setrusumab in Subjects with Osteogenesis Imperfecta (ULTRAGENYX)

Epidiolex® For the Treatment Of Anxiety Comorbidity In Refractory Pediatric Epilepsy (EAPE)

Description: This research study titled, Epidiolex® For the Treatment Of Anxiety Comorbidity In Refractory Pediatric Epilepsy (EAPE), is being conducted by Dr. Jay Salpekar to evaluate if the drug FDA approved drug, Epidiolex®, helps control anxiety and mood symptoms associated with recurrent seizures in addition to seizure control. The length of the study is 4 months and consists of 11 visits; some are remote and some are onsite.

If you or a family member have any questions or are interested in learning more about the study please contact the study staff by replying to this notice or by contacting the staff directly with the information below.

Perinatal Arterial Stroke: A Multi-site RCT of Intensive Infant Rehabilitation (I-ACQUIRE)

Description: I-ACQUIRE, a form of constraint-induced movement therapy (CIMT), is being evaluated - in two dosages – compated to typical treatments for children with hemiparesis, such as one hour weekly each of occupational therapy and physical therapy. Both dosages involve therapy fice days a week for four consecutive weeks, provided by a therapist trained in I-ACQUIRE. You’re infant or toddler may be eligible if he or she had a stroke very early in life and shows motor weakness or poor movement control on one side (hemiparesis.

Rare Disease Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta (RDCRN #7701)

Description: Rare Disease Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta (RDCRN #7701).

A Long-term Safety Study to Assess the Potential for Chronic Liver Injury in Participants Treated with Epidiolex (Cannabidiol) Oral Solution (GWEP19022)

Description: This study will monitor for potential chronic liver injury and liver fibrosis, in participants treated with cannabidiol oral solution.

The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative clinical Trials Network (GLIA-CTN)

Description: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago.

Prospective study of sensory motor function testing and Magnetic Resonance Imaging of brain and spinal cord in adrenoleukodystrophy and related leukodystrophies

Description: Prospective study of sensory motor function testing and Magnetic Resonance Imaging of brain and spinal cord in adrenoleukodystrophy and related leukodystrophies

A Phase 2B Study Evaluating the Efficacy and Safety of Basimglurant Adjunctive to Ongoing Anticonvulsive Therapy in Children and Adolescents with Uncontrolled Seizures Associated with Tuberous Sclerosis Complex

Description: The study intends to show that basimglurant (NOE-101) provides effective seizure control in children, adolescents and young adults with Tuberous Sclerosis Complex (TSC).

Neuronal Ceroid Lipofuscinosis (NCL) Natural History Study

Description: Neuronal Ceroid Lipofuscinosis (NCL) Natural History Study

Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy (LGMD)

Description: Limb Girdle Muscular Dystrophy comprise a group of disorders made up of over 30 mutations which share a common phenotype of progressive weakness of the shoulder and hip girdle muscles. While the individual genetic mutations are rare, as a cohort, LGMDs are one of the four most common muscular dystrophies. The overall goal of project 1 is to define the key phenotypes as measured by standard clinical outcome assessments (COAs) for limb girdle muscular dystrophies (LGMD) to hasten therapeutic development.

A Phase 2 Study to Evaluate the Effect of EDG-5506 on Safety, Biomarkers, Pharmacokinetics, and Functional Measures in Adults and Adolescents with Becker Muscular Dystrophy (CANYON)

Description: CANYON is a double-blind, randomized, placebo-controlled design to investigate the effect of sevasemten on the safety, pharmacokinetics, biomarkers, and functional measures. Approximately 32 adults and 18 adolescents with Becker muscular dystrophy are planned to enroll in this study. This study will have up to a 4-week Screening period, a 12-month Treatment period, followed by a 4-week follow-up period.

A Phase II Study to Evaluate the Pharmacodynamics, Safety, Tolerability, Pharmacokinetics, and Efficacy of RO7204239 in Participants with Facioscapulohumeral Muscular Dystrophy

Description:  The purpose of this study is to evaluate the pharmacodynamics, safety, tolerability, pharmacokinetics, and efficacy of RO7204239, a humanized monoclonal antibody that binds to human latent myostatin, in ambulant adult participants with facioscapulohumeral muscular dystrophy (FSHD).

A Phase 3 Study to Evaluate the Efficacy and Safety of BBP-418 (ribitol) in Patients with Limb Girdle Muscular Dystrophy 2I (FORTIFY)

Description: This study will evaluate the safety and efficacy of long-term administration of BBP-418 in patients with LGMD2I/R9. The study will include patients ages 12 to 60, consistent with the existing preclinical toxicology profile. This will encompass the significant majority of existing diagnosed patients based upon the established epidemiology of the disease.

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Phone: (443) 923-3850
Email: ResearchTrials@KennedyKrieger.org