For Patients

International CDKL5 Clinical Research Network’s Clinical Trial Readiness Study

PI: Heather Olson, MD, MS- NCT05558371

Patient Advocacy Group Partner: International Foundation for CDKL5 Research (IFCR)

Endpoint Enabling Study of Cyclin-dependent kinase-like 5 (CDKL5) Deficiency Disorder (CANDID)

PI: Heather Olson, MD, MS – NCT05373719

Patient Advocacy Group Partner: LouLou Foundation

A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Fixed-Dose, Multicenter Study to Examine the Efficacy and Safety of ZX008 in Subjects with CDKL5 Deficiency Disorder Followed by an Open-Label Extension

PI: Christelle Achkar, MD – NCT05064878

Phase 1 Study of Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies

PI: Heather Olson, MD, MS – NCT06700811

Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome

PI: Maya Chopra, MBBS, FRACP – NCT05528744

Treatment Efficacy and Safety of ADHD Medication in Down Syndrome – TEAM-DS
Down Syndrome

PI: Sabrina Sargado, MD — NCT04219280

EMPEROR: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel Group, Phase 3 Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen (STK-001) in Patients With Dravet Syndrome

PI: Christelle Achkar, MD — NCT06872125

A Long-Term Multicenter Prospective Observational Study Evaluating the Comparative Effectiveness and Safety of Sarepta Gene Transfer Therapy vs. Standard of Care in Participants with Duchnne Muscular Dystrophy under Conditions of Routine Clinical Practice

PI: Partha Ghosh, MD — NCT06270719​

A Prospective, Observational Study Evaluating the Real-World Experience of Givinostat in Patients with Duchenne Muscular Dystrophy

PI: Partha Ghosh, MD — NCT07127978

Patient Advocacy Group Partner: Muscular Dystrophy Association, Parent Project Muscular Dystrophy (PPMD)​

Epilepsy Seizure Detection with Innovative Tripolar EEG (tEEG)

PI: Alexander Rotenberg MD, PhD – NCT05944692

Characteristics and Clinical Course of Disease In Participants with Cardiomyopathy Associated With Friedreich Ataxia

PI: Leslie Hayes, MD – NCT06865482

Evaluation of Pharmacokinetics, Pharmacodynamics, Efficacy, Safety, and Immunogenicity of Ravulizumab Administered Intravenously in Pediatric Participants With Generalized Myasthenia Gravis (gMG)

PI: Partha Ghosh, MD – NCT05644561

Patient Advocacy Group Parnter: Myasthenia Gravis Foundation of America (MGFA)

A Phase 1/2, Randomized, Double-blind, Placebo-controlled Single- and Multiple-dose Escalation Study Evaluating the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of VX-670 in Adult Subjects with Myotonic Dystrophy Type 1 (DM1) (Galileo)

PI: Leslie Hayes, MD— NCT06185764

Patient Advocacy Group Partner: Muscular Dystrophy Association (MDA) 

Nemaline Myopathy natural history study – Assessing Individuals with Nemaline Myopathy (NM-CTRN)

PI: Leslie Hayes, MD— NCT06774703

Patient Advocacy Group Partners: Muscular Dystrophy Association (MDA) , Cure CMD

A Phase 1/2, Multicenter, Open-Label, Dose-Escalation, Safety, Tolerability, and Clinical Activity Study of a Single Dose of JAG201 Gene Therapy Delivered Via Intracerebroventricular Administration in Participants With SHANK3 Haploinsufficiency

PI: Siddharth Srivastava, MD — NCT06662188

Patient Advocacy Group Partners: Phelan McDermid Syndrome Foundation, CureSHANK

Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

PI: Mustafa Sahin, MD, PhD — NCT02461420

Patient Advocacy Group Partners: Phelan McDermid Syndrome Foundation

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations

PI: Mustafa Sahin, MD, PhD  |  Natural History Study — NCT02461446

Patient Advocacy Group Partners: PTEN Foundation, PTEN Research

An Open-label Phase 1/2/3 Study Consisting of a Phase 1/2 Safety and Dose-escalation and Phase 3 Dose-expansion Study to Evaluate Safety and Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy in Females With Rett Syndrome

PI: David Lieberman, MD, PhD – NCT05606614

Neurogene- A Phase 1/2, Open-Label Clinical Study to Evaluate Safety, Tolerability, and Efficacy of NGN-401 in Pediatric Subjects with Rett Syndrome

PI: David Lieberman, MD, PhD  |  Interventional Therapeutic Trial — NCT05898620

Patient Advocacy Group Partner: NEUROGENE INC

IRSF Rett Syndrome Observational Registry

PI: David Lieberman, MD, PhD— NCT05432349

Patient Advocacy Group Partner: International Rett Syndrome Foundation

Validating Innovative Biosensors for Rett Autonomic Symptom Tracking (VIBRANT)

PI: David Lieberman, MD, PhD—NCT06338267

Patient Advocacy Group Partner: Rett Syndrome Research Trust (RSRT)

A 2 part, seamless, multi-center, randomized, placebo-controlled, double blind study to investigate the safety, tolerability, pharmokinetics, pharmodynamics, and efficacy of RO7204239 in combination with Risdiplam (RO7034067) in ambulant patients with spinal muscular atrophy. (MANATEE)

PI: Basil Darras, MD – NCT05115110

Patient Advocacy Group Partners: Cure SMA, Muscular Dystrophy Association

An Open Label, Single Cohort Study to Assess the Pharmacokinetic Profile of Nusinersen (BIIB058) Administered via the ThecaFlex DRx™ System (PIERRE-PK)

PI: Basil Darras, MD – NCT06555419

Patient Advocacy Group Partners: Cure SMA, Muscular Dystrophy Association

AVXS long term f/u–A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 (SPECTRUM)

PI: Leslie Hayes, MD – NCT05335876

Patient Advocacy Group Partners: Cure SMA, Muscular Dystrophy Association

Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome

PI: John McLaren, MD  |  Natural History Study — NCT04717427

Patient Advocacy Group Partner: Sturge-Weber Foundation

MRI Biomarkers in Patients with Sturge Weber Syndrome

PI: John McLaren, MD –NCT04517565

Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study (TSC-STEPS)

PI: Mustafa Sahin MD, PhD  |  Clinical Drug Trial — NCT05104983

Patient Advocacy Group Partner: TSC Alliance

Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)

PI: Mustafa Sahin MD, PhD  |  Natural History Study — NCT02461459

Patient Advocacy Group Partner: TSC Alliance

A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition (EXCEL)

PI: Leslie Hayes, MD – NCT06581146

Patient Advocacy Group Partner: Cure CMD, Muscular Dystrophy Association (MDA), Joshua Frase Foundation 

A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy

PI: Leslie Hayes, MD – NCT07052929