Child Neurology Clinical Trials

Clinical trials led by investigators in the Division of Child Neurology aim to advance our ability to effectively treat neurofibromatosis, pompe disease, gliomas, and other conditions.

Developing a Neurofibromatosis Type 1 Ophthalmic Screening Protocol in a Neurofibromatosis Type 1 Clinic: A Single Center Pilot Study
Principal investigator: Zachary Elkin, MD

A Study to Assess the Long-Term Safety and Efficacy of ATB200/AT2221 in Adult Subjects with LOPDi19-01680
Principal investigator: Nicolas J. Abreu, MD

Gaucher Disease Outcome Survey (GOS)
Principal investigator: Nicolas J. Abreu, MD

Genzyme LSD Registry (Gaucher)
Principal investigator: Nicolas J. Abreu, MD

Genzyme LSD Registry (Pompe)
Principal investigator: Nicolas J. Abreu, MD

Genzyme LSD Registry (Fabry)
Principal investigator: Nicolas J. Abreu, MD

Hunter Outcome Survey: A Global Multi-Center Long-Term Observational Registry of Patients with Hunter Syndrome
Principal investigator: Nicolas J. Abreu, MD

NPC Early Access Program
Principal Investigator: Claire Miller, MD, PhD

A Safety and Efficacy Study of N-Acetyl-L-Leucine on GM2 Gangliosidosis
Principal investigator: Claire Miller, MD, PhD

Long-Term Follow-Up of Subjects Who Received SB-318, SB-913, or SB-FIX
Principal investigator: Nicolas J. Abreu, MD

Neurofibromatosis Clinical Trials Consortium (NFCTC)
Principal investigator: Kaleb H. Yohay, MD

Phase 2 Study of Neratinib for Adolescents and Adults with Neurofibromatosis 2 and Progressive NF2-Related Neoplasms: A Drug Sub-Study of the INTUITT-NF2 Platform Trial
Principal investigator: Kaleb H. Yohay, MD

Comprehensive Molecular Characterization of NF1-Related Tumors and Cell-Free Tumor DNA as a Biomarker for Early Detection of Malignant Transformation/Recurrence in NF1 Patients
Principal investigator: Kaleb H. Yohay, MD

Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2)
Principal investigator: Kaleb H. Yohay, MD

NF PROTOCOL 108: A Phase II Study of Binimetinib in Children and Adults with NF1-Associated Plexiform Neurofibromas (PNOC010)
Principal investigator: Kaleb H. Yohay, MD

NF1 Family Planning
Principal investigator: Kaleb H. Yohay, MD

A Phase II Trial of Poly-ICLC for Progressive, Previously Treated Low-Grade Gliomas in Children and Young Adults with Neurofibromatosis Type 1
Principal investigator: Kaleb H. Yohay, MD

Open-Label, Phase 2 Clinical Trial of Crizotinib for Children and Adults with Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas
Principal investigator: Kaleb H. Yohay, MD

A Phase 2 Trial of the MEK Inhibitor PD-0325901 in Adolescents and Adults with NF1-Associated Morbid Plexiform Neurofibromas
Principal investigator: Kaleb H. Yohay, MD

Assessment of Telemedicine Care in Neurofibromatosis
Principal investigator: Kaleb H. Yohay, MD

Survey of Understanding of Breast Cancer Risk and Screening Recommendations Among Adult Women with Neurofibromatosis Type 1
Principal investigator: Kaleb H. Yohay, MD

Trial of Selumetinib and AZD5153 with Durvalumab for Sarcomas
Principal investigator: Kaleb H. Yohay, MD

A Phase 2, Open-Label Multicenter Study to Evaluate the Safety and Efficacy of the Oral Pan-RAF Inhibitor DAY101 in Pediatric Patients with BRAF-Altered Recurrent or Progressive Low-Grade Glioma
Principal investigator: Sharon L. Gardner, MD

An Open-label Study of Intrathecal SHP611 in Subjects with Metachromatic Leukodystrophy
Principal investigator: Devorah Segal, MD, PhD

ONC201 in Newly Diagnosed Diffuse Intrinsic Pontine Glioma and Recurrent/Refractory Pediatric H3 K27M Gliomas
Principal investigator: Sharon L. Gardner, MD

Head Start 4: Newly Diagnosed Children (Less Than 10 Years Old) with Medulloblastoma and Other Central Nervous System Embryonal Tumors
Principal investigator: Sharon L. Gardner, MD

ACNS1831: A Phase 3 Randomized Study of Selumetinib (IND # 77782) versus Carboplatin/Vincristine in Newly Diagnosed or Previously Untreated Neurofibromatosis Type 1 (NF1) Associated Low-Grade Glioma (LGG)
Principal investigator: Sharon L. Gardner, MD

Expanded Access to ONC201 for Patients with H3 K27M-Mutant and/or Midline Gliomas
Principal investigator: Sharon L. Gardner, MD

ACNS1723: A Phase 2 Study of Dabrafenib (NSC# 763760) with Trametinib (NSC# 763093) after Local Irradiation in Newly Diagnosed BRAF V600-Mutant High-Grade Glioma (HGG)
Principal investigator: Sharon L. Gardner, MD

ACNS1931: A Phase 3 Study of Selumetinib (NSC# 748727) or Selumetinib in Combination with Vinblastine for Non-NF1, Non-TSC Patients with Recurrent or Progressive Low-Grade Gliomas (LGGs) Lacking BRAFV600E or IDH1 Mutations
Principal investigator: Sharon L. Gardner, MD

ACNS2021: A Phase 2 Trial of Chemotherapy followed by Response-Based Whole Ventricular and Spinal Canal Irradiation (WVSCI) for Patients with Localized Non-Germinomatous Central Nervous System Germ Cell Tumor
Principal Investigator: Sharon L. Gardner, MD

AGCT1531: A Phase 3 Study of Active Surveillance for Low Risk and a Randomized Trial of Carboplatin vs. Cisplatin for Standard Risk Pediatric and Adult Patients with Germ Cell Tumors
Principal investigator: Sharon L. Gardner, MD

AGCT1532: A Randomized Phase 3 Trial of Accelerated versus Standard BEP Chemotherapy for Patients with Intermediate and Poor-Risk Metastatic Germ Cell Tumors
Principal investigator: Sharon L. Gardner, MD