Status | Study |
Recruiting |
Study Name: Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Condition: Charcot-Marie-Tooth Disease Date: 2017-04-12 Interventions: Drug: ACE-083 Part 1 - Recombinant fusion protein. Part 2 - Recombinant fusion protein or buffer solutio |
Recruiting |
Study Name: A Phase II Trial of the Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Patients With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST) Condition: Neoplasms, Nerve Tissue Neurofibromatosis 1 Date: 2017-04-11 Interventions: Drug: Selumetinib (AZD6244 hyd sulfate) Selumetinib will be administered at a starting dose of 50 mg/dos |
Recruiting |
Study Name: Batten CLN6 Gene Therapy Condition: Batten Disease CLN6 Date: 2016-03-16 Interventions: Drug: scAVV9.CB.CLN6 Six subjects with diagnosis of CLN6 disease will receive scAVV9.CB.CLN6 administere |
Enrolling by invitation |
Study Name: A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease Condition: Jansky-Bielschowsky Disease Batten Disease Late-Infantile Date: 2016-01-15 Interventions: Drug: BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1) |
Active, not recruiting |
Study Name: A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Condition: Jansky-Bielschowsky Disease Batten Disease Late-Infantile Date: 2015-04-24 Interventions: Biological: BMN 190 300 mg ICV infusion administered every other week for up to 240 weeks |
Completed |
Study Name: An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Condition: Charcot Marie Tooth Disease (CMT) Hereditary Sensory and Motor Neuropathy Date: 2015-04-20 |
Completed |
Study Name: Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities Condition: Neuronal Ceroid Lipofuscinosis Batten's Disease Date: 2013-09-25 |
Completed |
Study Name: A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease Condition: Jansky-Bielschowsky Disease Batten Disease Late-Infantile Date: 2013-07-19 Interventions: Biological: BMN 190 30-300 mg ICV infusion administered every other week for at least 48 weeks. |
Recruiting |
Study Name: Clinical and Neuropsychological Investigations in Batten Disease Condition: Neuronal Ceroid Lipofuscinosis Date: 2013-05-17 |
Terminated |
Study Name: Collection of Cerebrospinal Fluid in Healthy Children Condition: Late Infantile Neuronal Ceroid Lipofuscinosis Batten Disease Date: 2012-08-15 Interventions: Other: Group 1 Collecting a small amount of cerebrospinal fluid (5 mL) from healthy children, ages 2 yrs |