120. 遺伝性ジストニア ［臨床試験数：15，薬物数：17（DrugBank：6），標的遺伝子数：2，標的パスウェイ数：2］
Searched query = "Hereditary dystonia", "DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X linked dystonia parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "Segawa syndrome", "Dopa responsive dystonia", "DYT6 dystonia", "DYT7 dystonia", "DYT8 dystonia", "Paroxysmal nonkinesigenic dyskinesia 1", "PNKD1", "DYT9 dystonia", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "Paroxysmal choreoathetosis and episodic ataxia and spasticity", "DYT10 dystonia", "Episodic kinesigenic dyskinesia 1", "EKD1", "DYT11 dystonia", "Myoclonus dystonia syndrome", "DYT12 dystonia", "Rapid onset dystonia parkinsonism", "Alternating hemiplegia of childhood", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "DYT13 dystonia", "DYT14 dystonia", "DYT15 dystonia", "DYT16 dystonia", "DYT17 dystonia", "DYT18 dystonia", "Paroxysmal execise induced dyskinesia", "DYT19 dystonia", "Episodic kinesigenic dyskinesia 2", "DYT20 dystonia", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "Neurodegeneration with Brain Iron Accumulation 1", "Pantothenate kinase associated neurodegeneration", "PKAN", "NBIA1", "Hallervorden Spatz syndrome", "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration", "Neurodegeneration with Brain Iron Accumulation 2", "Infantile neuroaxonal dystrophy", "INAD", "NBIA2", "Karak syndrome", "Neurodegeneration with Brain Iron Accumulation 3", "Neuroferritinopathy", "NBIA3", "Neurodegeneration with Brain Iron Accumulation 4", "Aceruloplasminemia", "Hereditary ceruloplasmin deficiency", "NBIA4", "Neurodegeneration with Brain Iron Accumulation 5", "NBIA5", "Beta propeller protein associated neurodegeneration", "BPAN", "Fatty Acid Hydroxylase associated neurodegeneration", "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35"
The queries were searched in Public_title, Scientific_title, and Condition of the data. Export date: 11/21/2019, 11/20/2019. Trials are sorted by Date_enrolment from most recent to oldest in the table.
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT03726996 | January 30, 2019 | 4 November 2019 | Desipramine in Infantile Neuroaxonal Dystrophy (INAD). | Novel Off-label Use of Desipramine in Infantile Neuroaxonal Dystrophy: Targeting the Sphingolipid Metabolism Pathway to Reduce Accumulation of Ceramide. | Infantile Neuroaxonal Dystrophy | Drug: Desipramine | Duke University | Not recruiting | 3 Years | 17 Years | All | 4 | Phase 4 | United States | |
| 2 | NCT03570931 | November 5, 2018 | 22 July 2019 | A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy | A Prospective Open-label Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy | Infantile Neuroaxonal Dystrophy | Drug: RT001 | Retrotope, Inc. | Not recruiting | 18 Months | 10 Years | All | 19 | Phase 2/Phase 3 | United States | |
| 3 | ChiCTR1900021076 | 2018-09-04 | 28 January 2019 | A study for efficacy of pantethine in the treatment of pantothenate kinase-associated neurodegeneration | A study for efficacy of pantethine in the treatment of pantothenate kinase-associated neurodegeneration | pantothenate kinase-associated neurodegeneration | Experimental group:Standardized basal treatment + pantethine;Control group:Standardized basal treatment; | Department of Pediatrics, Peking University First Hospital | Recruiting | 0 | 16 | Both | Experimental group:12;Control group:6; | Other | China | |
| 4 | EUCTR2016-001955-29-ES | 16/10/2017 | 23 October 2017 | Efficacy, Safety, and Tolerability of Fosmetpantotenate in patients with Pantothenate Kinase-associated Neurodegeneration (PKAN) | Efficacy, Safety, and Tolerability of Fosmetpantotenate (RE-024), a Phosphopantothenate replacement therapy, in patients with Pantothenate Kinase-associated Neurodegeneration (PKAN): A Randomized, Double-blind, Placebo-Controlled Study with an Open-Label Extension | Pantothenate kinase associated neurodegeneration (PKAN), an autosomal recessive genetic disorder, the most common form of Neurodegeneration with Brain Iron Accumulation (NBIA). It is a progressive, often fatal, neurodegenerative disease. MedDRA version: 19.1 Level: PT Classification code 10053643 Term: Neurodegenerative disorder System Organ Class: 10029205 - Nervous system disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Fosmetpantotenate Product Code: RE-024 Pharmaceutical Form: Powder for oral suspension INN or Proposed INN: Fosmetpantotenate CAS Number: 1858268-66-2 Current Sponsor code: RE-024 Concentration unit: mg milligram(s) Concentration type: equal Concentration number: 75- Pharmaceutical form of the placebo: Powder for oral suspension Route of administration of the placebo: Oral use | Retrophin, Inc. | Authorised | Female: yes Male: yes | 82 | Phase 3 | France;United States;Czech Republic;Canada;Spain;Norway;Germany;Italy;United Kingdom | |||
| 5 | NCT03041116 | July 17, 2017 | 14 January 2019 | Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Patients | Efficacy, Safety, and Tolerability of Fosmetpantotenate (RE-024), A Phosphopantothenate Replacement Therapy, in Pantothenate Kinase-Associated Neurodegeneration (PKAN) Patients: A Randomized, Double Blind, Placebo Controlled Study With an Open Label Extension | Pantothenate Kinase-Associated Neurodegeneration | Drug: Placebo;Drug: fosmetpantotenate (RE-024) | Retrophin, Inc. | Not recruiting | 6 Years | 65 Years | All | 82 | Phase 3 | United States;Canada;Czechia;France;Germany;Italy;Norway;Poland;Spain | |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 6 | NCT03019458 | February 10, 2017 | 16 December 2017 | MINGO Supplemental Trial in X-linked Dystonia-Parkinsonism Patients | MINGO Supplemental Trial in X-linked Dystonia Parkinsonism Patients: A Prospective Randomized, Open-labeled, Parallel Group Trial | X-Linked Dystonia Parkinsonism | Dietary Supplement: MINGO | Sunshine Care Foundation | Jose R. Reyes Memorial Medical Center;Massachusetts General Hospital | Not recruiting | 18 Years | 90 Years | All | 50 | N/A | Philippines |
| 7 | EUCTR2014-001427-79-GB | 30/12/2015 | 28 May 2018 | An international open label trial of deferiprone in patients with iron storage brain disorders - an extension to TIRCON2012V1 (a randomised controlled trial of deferiprone in patients with iron storage brain disorders). | Long-term Safety and Efficacy Study of Deferiprone in Patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN) - TIRCON2012V1-EXT | Pantothenate Kinase-Associated Neurodegeneration (PKAN) MedDRA version: 18.1 Level: PT Classification code 10053643 Term: Neurodegenerative disorder System Organ Class: 10029205 - Nervous system disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Trade Name: Ferriprox Product Name: Deferiprone 80 mg/mL oral solution Pharmaceutical Form: Oral solution INN or Proposed INN: Deferiprone CAS Number: 30652-11-0 Other descriptive name: Deferiprone Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 80- | ApoPharma Inc | Not Recruiting | Female: yes Male: yes | 89 | Phase 3 | United States;Germany;Italy;United Kingdom | |||
| 8 | NCT02408354 | March 2015 | 16 December 2017 | Pilot Study, Comparative, Single-center, Randomized, Crossover, Double-blind, Against Placebo, Testing the Effectiveness of Triheptanoin Oil in Alternating Hemiplegia of Childhood | Etude Pilote, Comparative, Monocentrique, randomisée, en Cross Over, en Double Aveugle, Contre Placebo, Testant l'efficacité de l'Huile triheptanoïne Dans Les Hémiplégies Alternantes de l'Enfant HEMIHEP | Alternating Hemiplegia of Childhood | Drug: Triheptanoin;Drug: Placebo | Institut National de la Santé Et de la Recherche Médicale, France | Not recruiting | 15 Years | N/A | All | 10 | Phase 2 | France | |
| 9 | EUCTR2012-000845-11-GB | 24/10/2013 | 30 April 2019 | An international trial of deferiprone in patients with iron storage brain disorders | A randomized, double-blind, placebo-controlled trial of deferiprone in patients with pantothenate kinase-associated neurodegeneration (PKAN) - TIRCON | Pantothenate Kinase-Associated Neurodegeneration (PKAN) MedDRA version: 16.0 Level: PT Classification code 10053643 Term: Neurodegenerative disorder System Organ Class: 10029205 - Nervous system disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Trade Name: Ferriprox Product Name: Deferiprone 80 mg/mL oral solution (Ferriprox) Pharmaceutical Form: Oral solution INN or Proposed INN: Deferiprone CAS Number: 30652-11-0 Current Sponsor code: V03AC02 Other descriptive name: Deferiprone Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 80- Pharmaceutical form of the placebo: Oral solution Route of administration of the placebo: Oral use | ApoPharma Inc | Not Recruiting | Female: yes Male: yes | 90 | Phase 3 | United States;Poland;Germany;Italy;United Kingdom | |||
| 10 | NCT01741532 | December 13, 2012 | 15 July 2019 | Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) | A Randomized, Double-blind, Placebo-controlled Trial of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) | Pantothenate Kinase-Associated Neurodegeneration | Drug: Deferiprone oral solution;Drug: Placebo | ApoPharma | Food and Drug Administration (FDA) | Not recruiting | 4 Years | N/A | All | 89 | Phase 3 | United States;Germany;Italy;United Kingdom;Poland |
| No. | TrialID | Date_ enrollement | Last_Refreshed_ on | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
| 11 | EUCTR2012-000845-11-DE | 16/07/2012 | 21 November 2016 | An international trial of deferiprone in patients with iron storage brain disorders | A randomized, double-blind, placebo-controlled trial of deferiprone in patients with pantothenate kinase-associated neurodegeneration (PKAN) - TIRCON | Pantothenate kinase-associated neurodegeneration (PKAN);Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Deferiprone 80 mg/mL oral solution Pharmaceutical Form: Oral solution INN or Proposed INN: Deferiprone CAS Number: 30652-11-0 Current Sponsor code: V03AC02 Other descriptive name: Deferiprone Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concentration number: 80- Pharmaceutical form of the placebo: Oral solution Route of administration of the placebo: Oral use | ApoPharma Inc. | Not Recruiting | Female: yes Male: yes | 90 | Phase 3 | United States;Poland;Germany;United Kingdom;Italy | |||
| 12 | NCT03333200 | January 11, 2012 | 11 November 2019 | Longitudinal Study of Neurodegenerative Disorders | Longitudinal Study of Neurodegenerative Disorders | MLD;Krabbe Disease;ALD;MPS I;MPS II;MPS III;Vanishing White Matter Disease;GM3 Gangliosidosis;PKAN;Tay-Sachs Disease;NP Deficiency;Osteopetrosis;Alpha-Mannosidosis;Sandhoff Disease;Niemann-Pick Diseases;MPS IV;Gaucher Disease;GAN;GM1 Gangliosidoses;Morquio Disease;S-Adenosylhomocysteine Hydrolase Deficiency;Batten Disease;Pelizaeus-Merzbacher Disease;Leukodystrophy;Lysosomal Storage Diseases;Purine Nucleoside Phosphorylase Deficiency;Multiple Sulfatase Deficiency Disease | Other: Palliative Care;Biological: Hematopoetic Stem Cell Transplantation | University of Pittsburgh | Recruiting | N/A | N/A | All | 1500 | Phase 1 | United States | |
| 13 | NCT02635841 | October 2009 | 16 December 2017 | Compassionate Use of Deferiprone in Patients With PKAN | The Compassionate Use of Deferiprone in Patients With Pantothenate Kinase-Associated Neurodegeneration | Pantothenate Kinase-Associated Neurodegeneration | Drug: Deferiprone | ApoPharma | Not recruiting | 7 Years | N/A | All | N/A | |||
| 14 | NCT00931164 | August 2009 | 19 October 2017 | Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO) | Single-center Phase I/II Trial of Sodium Oxybate in Patients With Alternating Hemiplegia of Childhood (AHC-SO Trial) | Alternating Hemiplegia of Childhood | Drug: Sodium Oxybate | University of Utah | Alternating Hemiplegia of Childhood Foundation;Jazz Pharmaceuticals | Not recruiting | 6 Months | 25 Years | All | 6 | Phase 1/Phase 2 | United States |
| 15 | EUCTR2008-003059-56-IT | 29/07/2008 | 19 March 2012 | Phase II trial to assess safety and efficacy of Iron chelating agent Deferiprone in patients with Pantothenate Kinase-Associated Neurodegeneration ? ICAND ? Trial - ND | Phase II trial to assess safety and efficacy of Iron chelating agent Deferiprone in patients with Pantothenate Kinase-Associated Neurodegeneration ? ICAND ? Trial - ND | PKAN MedDRA version: 9.1 Level: HLT Classification code 10042259 Term: Structural brain disorders NEC | Trade Name: FERRIPROX*100CPR RIV 500MG Pharmaceutical Form: Film-coated tablet INN or Proposed INN: Deferiprone Concentration unit: mg/kg milligram(s)/kilogram Concentration type: equal Concentration number: 25- | ISTITUTO NEUROLOGICO CARLO BESTA | Not Recruiting | Female: yes Male: yes | Phase 2 | Italy |