Neurology Clinical Trials

ENDEAVOR

Condition: Ambulatory Duchenne Muscular Dystrophy

Type of Research: Interventional
Principal Investigator: Crystal Proud, MD

Study Specifications: Duchenne muscular dystrophy (DMD) is an X-linked degenerative neuromuscular disease caused by mutations in the dystrophin gene. Treatment options for DMD are limited. SRP-9001 is a gene therapy designed to treat the underlying biological cause of DMD by replacing dysfunctional or missing dystrophin protein with a functional truncated dystrophin, called micro-dystrophin. ENDEAVOR aims to evaluate the safety and expression of systemic gene delivery of SRP-9001.

Point of Contact for the Study: Proud.Research@chkd.org

PTC124

Condition: Nonsense Mutation Duchenne Muscular Dystrophy

Type of Research: Interventional
Principal Investigator: Crystal Proud, MD

Study Specifications: Duchenne muscular dystrophy (DMD) is an X-linked degenerative neuromuscular disease caused by mutations in the dystrophin gene. Ataluren is a small molecule being developed for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD). PTC124 aims to assess the safety and tolerability of 10, 10, 20 mg/kg ataluren in subjects with nmDMD who had prior exposure to ataluren in a PTC-sponsored clinical trial or treatment plan, and siblings of those patients (provided those patients have completed the placebo-controlled portion of the trial).

Point of Contact for the Study: Proud.Research@chkd.org

REACH CDM

Condition: Congenital Myotonic Dystrophy (Congenital DM1)

Type of Research: Interventional
Principal Investigator: Crystal Proud, MD

Study Specifications: Congenital Myotonic Dystrophy (Congenital DM1) is a genetic disorder that causes muscle weakness. Currently, there is no cure or disease-modifying treatments approved for individuals with myotonic dystrophy. Tideglusib will be provided orally to subjects and will be investigated to determine efficacy and safety in children 6 to 16 years of age with a congenital myotonic dystrophy diagnosis.

Point of Contact for the Study:  Proud.Research@chkd.org

0367-CL-0102

Condition: Duchenne Muscular Dystrophy

Type of Research: Interventional
Principal Investigator: Crystal Proud, MD 

Study Specifications: Duchenne muscular dystrophy (DMD) is an X-linked degenerative neuromuscular disease caused by mutations in the dystrophin gene. Pediatric male patients aged 8 to 16 with Duchenne Muscular Dystrophy who qualify for the study will be given ASP0367 capsules which are orally administered.

Point of Contact for the Study:  Proud.Research@chkd.org

FGCL-3019-093

Condition: Duchenne Muscular Dystrophy (DMD)

Type of Research: Interventional
Principal Investigator: Crystal Proud, MD 

Study Specifications: This study is to evaluate the safety and efficacy of Pamrevlumab in combo with corticosteroid use in children with DMD who are not able to walk. Subjects must be 12 years or older and will participate in the study for approximately 1 year.

Point of Contact for the Study: Proud.Research@chkd.org

FGCL-3019-094

Condition: Duchenne Muscular Dystrophy (DMD)

Type of Research: Interventional
Principal Investigator: Crystal Proud, MD 

Study Specifications: This study is to evaluate the safety and efficacy of Pamrevlumab in combo with corticosteroid use every two weeks in children with DMD who are still able to walk. Subjects must be from age 6 to less than 12 years old.

Point of Contact for the Study: Proud.Research@chkd.org

DIAZ

Condition: Epilepsy

Type of Research: Interventional
Principal Investigator: Michael Strunc, MD
Primary Coordinator: Erin McAndrews, LPN

Study Specifications: VALTOCO is an intranasal spray currently available as a treatment option for children 6 and above with Epilepsy. This study will enroll children ages 2-5 years of age, diagnosed with epilepsy. The study will asses the safety and tolerability of VALTOCO.

Point of Contact for the Study: Erin McAndrews LPN
Email: Erin.McAndrews@chkd.org
Phone: (757) 668-6896

Natural History of LGMD

Conditions: Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5)

Type of Research: Observational
Principal Investigator: Crystal Proud, MD 

Study Specifications: The limb-girdle muscular dystrophies (LGMDs) are a group of rare, genetically heterogeneous disorders involving progressive weakness and wasting of the shoulder and pelvic girdle musculature. The Natural History of LGMD aims to study the natural history of individuals with LGMD type 2E (LGMD2E/R4), type 2D (LGMD2D/R3), and type 2C (LGMD2C/R5), ≥ 4 years of age, who are managed in routine clinical practice.

Point of Contact for the Study:  Proud.Research@chkd.org

PROSPECT-2

Conditions: Chronic Migraines

Type of Research: Interventional
Principal Investigator: Ryan Williams, MD
Primary Study Coordinator: TBD

Study Specifications: Migraines are a common neurological disease characterized by recurrent episodes of moderate to severe headache associated with physiological disruptions of neurological, gastrointestinal (vomiting and nausea), sensory function, and mood changes. In 2020, Eptinezumab was approved by the US FDA for the preventive treatment of migraines in adults. Prospect-2 aims to evaluate the efficacy of 100 and 300mg of Eptinezumab administered via IV infusion compared to placebo for the preventive treatment of chronic migraine (CM) in patients 12 to 17 years of age.

Point of Contact for the Study: TBD

BHV3000-311

Conditions: Migraine (with or without aura)

Type of Research: Interventional
Principal Investigator: Ryan Williams, MD
Primary Study Coordinator: Ashley Vasko, BS

Study Specifications: Migraines are a debilitating issue in the pediatric population. This study will assess the safety and efficacy of Rimegepant vs. placebo for the treatment of migraine (with or without) aura ages 6 < 18 years of age.

Point of Contact for the Study: Ashley Vasko, BS
Email: Ashley.Vasko@chkd.org
Phone: (757) 668-6417

PIONEER-PEDS1 (LAHV)

Conditions: Migraine

Type of Research: Interventional
Principal Investigator: Ryan Williams, MD
Primary Study Coordinator: Erin McAndrews, LPN

Study Specifications: Lasmiditan dosing will be compared to the placebo for acute treatment of migraine in pediatric patients ages 6 < 18. Lasmiditan (Reyvow) is currently approved for use in adults.

Point of Contact for the Study: Erin McAndrews, LPN
Email: Erin.McAndrews@chkd.org
Phone: (757) 668-6896

PIONEER-PEDS2 (LAHW)

Conditions: Migraine

Type of Research: Interventional
Principal Investigator: Ryan Williams, MD

Study Specifications: Open-Label extension study of PIONEER-PEDS1.

TOPAZ

Condition: Later-Onset Spinal Muscular Atrophy

Type of Research: Interventional
Principal Investigator: Crystal Proud, MD 

Study Specifications: Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the motor neurons of the spinal cord, resulting in weakened muscles of the limbs and trunk. SRK-015 is being developed for the treatment of SMA in pediatric and adult patients by targeting muscle weakness and improving muscle strength and motor function. SRK-015 is administered by intravenous (IV) infusion. TOPAZ is a Phase II clinical trial that aims to study the safety and tolerability of SPK-015 in patients with later-onset SMA.

Point of Contact for the Study:  Proud.Research@chkd.org

WASHU

Condition: Molecularly confirmed chromosome 5q SMA

Type of Research: Observational
Principal Investigator: Crystal Proud, MD
Primary Study Coordinator: Erin McAndrews, LPN

Study Specifications: Spinal Muscular Atrophy (SMA) is a neuromuscular disease resulting from a progressive deterioration of cells in the spinal cord and brain stem. SPINRAZA (nusinersen) was approved by the US FDA for the treatment of all types of 5q SMA and in patients of all ages. WASHU is a longitudinal, observational study aiming to assess the effectiveness of SPINRAZA on ambulation and upper extremity function.

Point of Contact for the Study: Erin McAndrews LPN
Email: Erin.McAndrews@chkd.org
Phone: (757) 668-6896

RESPOND

Condition: Spinal Muscular Atrophy (SMA)

Type of Research: Interventional
Principal Investigator: Crystal Proud, MD 

Study Specifications: Open-label trial to assess clinical outcomes, safety, and tolerability of Nusinersen given to subjects via IT injection who previously received intravenous (IV) onasemnogene abeparvovec. The subjects should have previously taken Nusinersen. Study duration will be up to 115 weeks.

Point of Contact for the Study: Proud.Research@chkd.org