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 Global Multicenter Open-Label Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy (MLD)
Principal investigator: Devorah Segal, MD, PhD

Spinraza in Adult with Spinal Muscular Atrophy (SAS)
Principal investigator: Mary-Lynn Y. Chu, MD