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

A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy (HOPE-3)

PI: Partha Ghosh, MD – NCT05126758

Patient Advocacy Group Partners: Muscular Dystrophy Association (MDA), Parent Project Muscular Dystrophy (PPMD)

A Phase 3, Multinational, Long-Term Follow-Up Study to Evaluate Safety and Efficacy in Subjects Who Have Previously Received Delandistrogene Moxeparvovec (SRP-9001) in a Clinical Study (EXPEDITION)

PI: Partha Ghosh, MD – NCT05967351

Patient Advocacy Group Partners: Muscular Dystrophy Association (MDA), Parent Project Muscular Dystrophy (PPMD)

PTC-016- An Open-Label, Safety Study for Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy (nmDBMD)

PI: Basil Darras, MD – NCT01247207

Patient Advocacy Group Partners: Muscular Dystrophy Association (MDA), Parent Project Muscular Dystrophy (PPMD)

Pharmacokinetics, Pharmacodynamics, and Safety Profile of Understudied Drugs Administered to Children per Standard of Care / (POPO2) – Down Syndrome Cohort

PI: Carol Wilkinson, MD, PhD, Nicole Baumer, MD, MEd — NCT04278404

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

PI: Sabrina Sargado, MD — NCT04219280

Epilepsy Seizure Detection with Innovative Tripolar EEG (tEEG)

PI: Alexander Rotenberg MD, PhD – NCT05944692

An Open-Label Extension Study to Assess the Long-Term Safety and Tolerability of ZYN002 Administered as a Transdermal Gel to Children and Adolescents with Fragile X Syndrome – CONNECT-FX Open Label Extension (OLE)

PI: Lisa Prock, MD, MPH – NCT03802799

Patient Advocacy Group Parnters: FRAXA Research Foundation, National Fragile X Foundation

A Randomized, Double-blind, Placebo-Controlled, Two-Part Study of BPN14770 in Male Adolescents (Aged 9 to < 18 Years) with Fragile X Syndrome – Tetra 204

PI: Lisa Prock, MD, MPH – NCT05163808

Patient Advocacy Group Parnters: FRAXA Research Foundation, National Fragile X Foundation

An Open-Label Extension Study of BPN14770 in Subjects with Fragile X Syndrome – Tetra 302

PI: Lisa Prock, MD, MPH – NCT05367960

Patient Advocacy Group Parnters: FRAXA Research Foundation, National Fragile X Foundation

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

Long-Term Extension Study of Nusinersen (BIIB058) Administered at Higher Doses in Participants With Spinal Muscular Atrophy Who Previously Participated in an Investigational Study With Nusinersen (ONWARD)

PI: Basil Darras, MD – NCT04729907

Patient Advocacy Group Partners: Cure SMA, Muscular Dystrophy Association

A Phase 3b Study to Evaluate Higher Dose Nusinersen (BIIB058) in Patients with Spinal Muscular Atrophy (SMA) Previously Treated with Risdiplam (ASCEND)

PI: Basil Darras, MD – NCT05067790

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

Expanded Access Protocol of Apitegromab for Patients with Spinal Muscular Atrophy

PI: Basil Darras, MD – NCT06877689

Patient Advocacy Group Partners: Cure SMA, Muscular Dystrophy Association

A Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Ambulatory and Non-Ambulatory Participants with Spinal Muscular Atrophy with Open-Label Extension (RESILIENT)

PI: Leslie Hayes, MD – NCT05337553

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