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Conditions: Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies, Inherited Neuromuscular Conditions
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 1 Day to 100 Years
Enrollment: 2,586 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2012
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Recurrent Head and Neck Squamous Cell Carcinoma, Metastatic Head and Neck Squamous Cell Carcinoma
Interventions: BYL719 as film-coated (FC) whole tablets, BYL719 as dispersible tablets (DT), cetuximab, BYL719 drink suspension; Drug · Biological
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 18 Years and older
Enrollment: 179 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2016
U.S. locations: 14
States / cities: Sacramento, California • San Francisco, California • Aurora, Colorado + 10 more

Conditions: Rare Unresectable or Metastatic BRAF V600E Mutation-positive Solid Tumors
Interventions: Non-investigational; Other
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 1 Year to 100 Years
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2028
U.S. locations: 8
States / cities: Torrance, California • Denver, Colorado • Washington D.C., District of Columbia + 5 more

Conditions: Charcot Marie Tooth Disease (CMT), Neuromuscular Diseases (NMD)
Interventions: VCA-894A; Drug
Lead sponsor: Vanda Pharmaceuticals; Industry
Eligibility: Female only
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 1
States / cities: Madison, Wisconsin

Conditions: Pancreas Cancer, Peutz-Jeghers Syndrome (PJS), Gene Mutation, Germline Mutation Carrier, Lynch Syndrome
Interventions: Secretin, MRI, Tumor marker gene test with CA19-9; Drug · Diagnostic Test · Other
Lead sponsor: Johns Hopkins University; Other
Eligibility: 18 Years and older
Enrollment: 9,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2029
U.S. locations: 9
States / cities: New Haven, Connecticut • Baltimore, Maryland • Boston, Massachusetts + 5 more

Conditions: Neoplasms, Melanoma, Colorectal Neoplasm, Carcinoma, Non-small Cell Lung
Interventions: ASN003 ascending doses, ASN003 MTD; Drug
Lead sponsor: Asana BioSciences; Industry
Eligibility: 18 Years and older
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2019
U.S. locations: 5
States / cities: Los Angeles, California • Tampa, Florida • Boston, Massachusetts + 2 more

Conditions: PIK3CA-Related Overgrowth Spectrum (PROS)
Interventions: alpelisib; Other
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 2 Years and older
Enrollment: 57 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2021
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11, APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency, HPRT1, OMIM *308000 Lesch-Nyhan Disease, XDH, OMIM *607633, Xanthinuria Type 1, SLC2A9, OMIM *606142 Hypouricemia, SLC22A12, OMIM *607096 Hypouricemia, PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease, PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity, AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia, ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, CAD, *1140120, Developmental and Epileptic Encephalopathy, UPB1, OMIM *606673, Beta-ureidopropionase Deficiency, DPYS, OMIM *613326, Dihydropyrimidinase Deficiency, DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency, DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis), UMPS, OMIM *613891, Orotic Aciduria, NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency, UNG, OMIM *191525, Hyper-IgM Syndrome 5, AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2, Purine-Pyrimidine Metabolism, Metabolic Disease
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 100 Years
Enrollment: 999 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2099
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Locally Advanced or Metastatic Solid Tumors, Genes, BRCA 1
Interventions: Avelumab, Talazoparib; Drug
Lead sponsor: Pfizer; Industry
Eligibility: 18 Years and older
Enrollment: 202 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2023
U.S. locations: 72
States / cities: Palo Alto, California • Stanford, California • Alpharetta, Georgia + 35 more

Conditions: Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease, Primary Lateral Sclerosis, Nervous System Diseases, Hereditary Spastic Paraparesis
Interventions: No intervention; Other
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 30 Years to 80 Years
Enrollment: 475 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2008 – 2015
U.S. locations: 29
States / cities: Phoenix, Arizona • Orange, California • Jacksonville, Florida + 24 more

Conditions: Nausea, Vomiting, Familial Dysautonomia
Interventions: Dronabinol, Placebo; Drug · Other
Lead sponsor: NYU Langone Health; Other
Eligibility: 18 Years to 60 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2019
U.S. locations: 1
States / cities: New York, New York

Conditions: Familial Dysautonomia
Interventions: CBT sessions, Talking Sessions; Behavioral
Lead sponsor: NYU Langone Health; Other
Eligibility: 18 Years to 80 Years
Healthy volunteers: Accepts healthy volunteers
Timeline: 2019 – 2021
U.S. locations: 1
States / cities: New York, New York

Conditions: Charcot-Marie-Tooth Disease
Interventions: Not listed
Lead sponsor: NMD Pharma A/S; Industry
Eligibility: 18 Years and older
Enrollment: 30 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2022
U.S. locations: 1
States / cities: Columbus, Ohio

Conditions: Anatomic Stage I Breast Cancer AJCC v8, Anatomic Stage IA Breast Cancer AJCC v8, Anatomic Stage IB Breast Cancer AJCC v8, Anatomic Stage II Breast Cancer AJCC v8, Anatomic Stage IIA Breast Cancer AJCC v8, Anatomic Stage IIB Breast Cancer AJCC v8, Anatomic Stage III Breast Cancer AJCC v8, Anatomic Stage IIIA Breast Cancer AJCC v8, Anatomic Stage IIIB Breast Cancer AJCC v8, Anatomic Stage IIIC Breast Cancer AJCC v8, Grade 1 Peripheral Motor Neuropathy, CTCAE, Grade 1 Peripheral Sensory Neuropathy, CTCAE, Grade 2 Peripheral Motor Neuropathy, CTCAE, Grade 2 Peripheral Sensory Neuropathy, CTCAE, Prognostic Stage I Breast Cancer AJCC v8, Prognostic Stage IA Breast Cancer AJCC v8, Prognostic Stage IB Breast Cancer AJCC v8, Prognostic Stage II Breast Cancer AJCC v8, Prognostic Stage IIA Breast Cancer AJCC v8, Prognostic Stage IIB Breast Cancer AJCC v8, Prognostic Stage III Breast Cancer AJCC v8, Prognostic Stage IIIA Breast Cancer AJCC v8, Prognostic Stage IIIB Breast Cancer AJCC v8, Prognostic Stage IIIC Breast Cancer AJCC v8
Interventions: Acupuncture Therapy, Best Practice, Quality-of-Life Assessment, Questionnaire Administration; Procedure · Other
Lead sponsor: Wake Forest University Health Sciences; Other
Eligibility: 18 Years and older · Female only
Enrollment: 23 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2021
U.S. locations: 1
States / cities: Winston-Salem, North Carolina

Conditions: Sensory Peripheral Neuropathy, Balance; Distorted, Sensation Disorders
Interventions: Walkasins; Device
Lead sponsor: RxFunction Inc.; Industry
Eligibility: 18 Years to 90 Years
Enrollment: 69 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2021
U.S. locations: 5
States / cities: Baltimore, Maryland • Boston, Massachusetts • Minneapolis, Minnesota + 2 more

Conditions: Melanoma
Interventions: Single agent, adjuvant anti-PD1 therapy; Drug
Lead sponsor: John Kirkwood; Other
Eligibility: 18 Years and older
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2029
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Breast Cancer
Interventions: Paclitaxel, BKM120 matching placebo, BKM120; Drug
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 18 Years and older · Female only
Enrollment: 416 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2015
U.S. locations: 21
States / cities: Chandler, Arizona • Phoenix, Arizona • Fayetteville, Arkansas + 17 more

Conditions: Neuropathic Pain, Distal Sensory Polyneuropathy
Interventions: LY3848575, Placebo; Drug
Lead sponsor: Eli Lilly and Company; Industry
Eligibility: 18 Years and older
Enrollment: 558 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 24
States / cities: Chandler, Arizona • Phoenix, Arizona • Fresno, California + 20 more

Conditions: Alzheimer's Disease
Interventions: CERE-110: Adeno-Associated Virus injection Surgery, Placebo Surgery; Drug · Procedure
Lead sponsor: Sangamo Therapeutics; Industry
Eligibility: 55 Years to 80 Years
Enrollment: 49 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2015
U.S. locations: 10
States / cities: Birmingham, Alabama • Los Angeles, California • San Diego, California + 7 more

Conditions: Carpal Tunnel Syndrome
Interventions: Physical Therapy; Other
Lead sponsor: Brooke Army Medical Center; Federal
Eligibility: 18 Years to 65 Years
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2025
U.S. locations: 1
States / cities: San Antonio, Texas

Conditions: Tuberous Sclerosis, Lymphangioleiomyomatosis
Interventions: RAD001; Drug
Lead sponsor: Children's Hospital Medical Center, Cincinnati; Other
Eligibility: 18 Years to 65 Years
Enrollment: 36 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2013
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: CMT 1A
Interventions: UIHC Driving Simulator; Device
Lead sponsor: Jerath U Nivedita; Other
Eligibility: 16 Years and older
Enrollment: 32 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2016
U.S. locations: 1
States / cities: Iowa City, Iowa

Conditions: Primary Familial Dilated Cardiomyopathy
Interventions: danicamtiv; Drug
Lead sponsor: Bristol-Myers Squibb; Industry
Eligibility: 18 Years to 80 Years
Enrollment: 41 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2024
U.S. locations: 12
States / cities: La Jolla, California • Washington D.C., District of Columbia • Tampa, Florida + 9 more

Conditions: Charcot Marie Tooth Disease, Inherited Peripheral Neuropathy
Interventions: Not listed
Lead sponsor: University of Iowa; Other
Eligibility: 10 Years and older
Enrollment: 563 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2019
U.S. locations: 2
States / cities: Iowa City, Iowa • Rochester, New York

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Genetic and Physical Study of Childhood Nerve and Muscle Disorders

A Phase Ib/II Study of BYL719 and Cetuximab in Recurrent or Metastatic Head and Neck Squamous Cell Carcinoma

Clinical Study To Further Evaluate The Efficacy Of Dabrafenib Plus Trametinib In Patients With Rare BRAF V600E Mutation-Positive Unresectable or Metastatic Solid Tumors

Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient

The Cancer of the Pancreas Screening-5 CAPS5)Study

Study of ASN003 in Subjects With Advanced Solid Tumors

Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum Who Have Received Alpelisib

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Javelin BRCA/ATM: Avelumab Plus Talazoparib in Patients With BRCA or ATM Mutant Solid Tumors

Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)

The Safety, Tolerability and Efficacy of Dronabinol, for the Treatment of Nausea and Vomiting in Familial Dysautonomia

Telemedicine Clinical Trial for Cognitive Behavioral Therapy in Familial Dysautonomia

Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls

Acupuncture in Reducing Chemotherapy-Induced Peripheral Neuropathy in Participants With Stage I-III Breast Cancer

walk2Wellness: Long-term Effects of Walkasins® Wearable Sensory Prosthesis

Effects of Anti-PD1 Adjuvant Checkpoint Blockade Immunotherapy on Atypical/Dysplastic Nevi

A Study of the Experimental Drug BKM120 With Paclitaxel in Patients With HER2 Negative, Locally Advanced or Metastatic Breast Cancer, With or Without PI3K Activation

Effects of LY3848575 Versus Placebo in Participants With Painful Distal Sensory Polyneuropathy

Randomized, Controlled Study Evaluating CERE-110 in Subjects With Mild to Moderate Alzheimer's Disease

Small Nerve Fiber Activity in Patients with Carpal Tunnel Syndrome Assessed Via Quantitative Sensory Testing

RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM

Driving Ability in Patients With CMT 1A

Exploratory Study of Danicamtiv in Patients With Primary Dilated Cardiomyopathy (DCM) Due to Genetic Variants or Other Causalities

Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)