Clinical Trials on Autosomal or Sex Linked Recessive Genetic Disease in Japan

Total 455 results

Kyorin University

Unknown

Efficacy of Tolvaptan on ADPKD Patients

Autosomal Dominant Polycystic Kidney Disease

Japan
Otsuka Pharmaceutical Co., Ltd.

Completed

A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001]

Autosomal Dominant Polycystic Kidney Disease

Japan
Kyorin University
Otsuka Pharmaceutical Co., Ltd.

Completed

Clinical Implications of DNA Analysis on ADPKD (DNAAA)

Autosomal Dominant Polycystic Kidney Disease

Japan
Otsuka Pharmaceutical Co., Ltd.

Completed

A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002]

Autosomal Dominant Polycystic Kidney Disease

Japan
Kyorin University
Ministry of Health, Labour and Welfare, Japan

Unknown

CCB Safety Study in Treatment of Hypertension of ADPKD

Kidney, Polycystic, Autosomal Dominant

Japan
Kyorin University

Completed

Efficacy Study of Water Drinking on PKD Progression. (ESWP)

Disease Progression | Autosomal Dominant Polycystic Kidney Disease

Japan
Otsuka Pharmaceutical Co., Ltd.

Completed

Post-Marketing Surveillance Study of Tolvaptan in Patients With ADPKD

Polycystic Kidney, Autosomal Dominant

Japan
Novo Nordisk A/S

Completed

Non-interventional Study of Patients Using Norditropin® for Growth Hormone Deficiency or Turner Syndrome (NordiPAD)

Turner Syndrome | Growth Hormone Disorder | Growth Hormone Deficiency in Children | Genetic Disorder

Japan
Otsuka Pharmaceutical Co., Ltd.

Completed

A Study to Investigate the Long-term Safety and Efficacy of Tolvaptan in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Trial 156-04-251 in Japan]

Autosomal Dominant Polycystic Kidney Disease （ADPKD)

Japan
Ministry of Health, Labour and Welfare, Japan

Unknown

Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD)

Kidney, Polycystic, Autosomal Dominant

Japan
Janssen Pharmaceutical K.K.

Completed

An Observational Study of Japanese Participants With X-linked Retinitis Pigmentosa

X-Linked Retinitis Pigmentosa

Japan
Rege Nephro Co., Ltd.

Recruiting

Study of Tamibarotene in Patients With ADPKD

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Japan
Janssen Pharmaceutical K.K.

Recruiting

A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa

X-Linked Retinitis Pigmentosa

Japan
Taiho Pharmaceutical Co., Ltd.

Completed

A Study of TAS-205 for Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Japan
Takeda

Recruiting

Specified Drug-Use Survey of Leuprorelin Acetate Injection Kit 11.25 mg "All-Case Investigation: Spinal and Bulbar Muscular Atrophy (SBMA)"

Spinal and Bulbar Muscular Atrophy

Japan
Sanofi

Terminated

Long-term Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD) With Venglustat (STAGED-PKD-EXT)

Congenital Cystic Kidney Disease

Germany, Spain, United States, Australia, Belgium, Japan, Korea, Republic of, Netherlands
National Center of Neurology and Psychiatry, Japan
Nippon Shinyaku Co., Ltd.

Completed

Exploratory Study of NS-065/NCNP-01 in DMD

Duchenne Muscular Dystrophy

Japan
National Center of Neurology and Psychiatry, Japan
Nippon Shinyaku Co., Ltd.

Completed

Exploratory Study of NS-089/NCNP-02 in DMD

Duchenne Muscular Dystrophy

Japan
Pfizer

Completed

BeneFIX Drug Use Results Survey [All-Case Surveillance]

Hemophilia B

Japan
GlaxoSmithKline

Completed

A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723

Mucopolysaccharidosis II

Japan
Nippon Shinyaku Co., Ltd.

Active, not recruiting

Extension Study of NS-089/NCNP-02 in DMD

Duchenne Muscular Dystrophy (DMD)

Japan
Novo Nordisk A/S

Enrolling by invitation

Post-Marketing Surveillance (All Case Surveillance) on Treatment With Alhemo® in Patients With Haemophilia A or Haemophilia B With Inhibitors

Haemophilia A | Haemophilia B

Japan
Taiho Pharmaceutical Co., Ltd.

Recruiting

A Phase 3 Study of TAS-205 in Patients With Duchenne Muscular Dystrophy（REACH-DMD）

Duchenne Muscular Dystrophy

Japan
Daiichi Sankyo Co., Ltd.
Orphan Disease Treatment Institute Co., Ltd.

Completed

Study of DS-5141b in Patients With Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Japan
Daiichi Sankyo Co., Ltd.

Active, not recruiting

Long-term, Extension Study of DS-5141b in Patients With Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Japan
Suzuka Hospital
Nagoya University

Unknown

The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy

Cardiomyopathies | Duchenne Muscular Dystrophy

Japan
Otsuka Pharmaceutical Development & Commercialization...
Otsuka Pharmaceutical Co., Ltd.

Completed

Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD) (TEMPO3:4)

Polycystic Kidney Disease, Autosomal Dominant

United States, Belgium, United Kingdom, Russian Federation, France, Australia, Netherlands, Italy, Japan, Denmark, Romania, Poland, Canada, Argentina, Germany
Kobe University
Nobelpharma; Japan Medical Association

Unknown

Phase II Study of NPC-14 (Arbekacin Sulfate) to Explore Safety, Tolerability, and Efficacy in Duchenne Muscular Dystrophy (NORTH POLE DMD)

Muscular Dystrophy, Duchenne

Japan
Mitsubishi Tanabe Pharma America Inc.

Recruiting

INcreased Sun Exposure Without Pain In Research Participants With EPP or XLP (INSPIRE)

Erythropoietic Protoporphyria (EPP) | X-Linked Protoporphyria (XLP)

United States, Spain, France, Japan, United Kingdom, Italy, Australia, Poland, Bulgaria, Czechia, Netherlands
Taiho Pharmaceutical Co., Ltd.

Completed

A Phase IIa Study of TAS-205 for Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Japan
Genzyme, a Sanofi Company

Terminated

A Medical Research Study Designed to Determine if Venglustat Can be a Future Treatment for ADPKD Patients (STAGED-PKD)

Polycystic Kidney, Autosomal Dominant

Belgium, Germany, Czechia, United States, Italy, Poland, Argentina, Australia, Austria, Canada, China, Denmark, France, Israel, Japan, Korea, Republic of, Netherlands, Portugal, Romania, Spain, Taiwan, Turkey, United Kingdom
Kyowa Kirin Co., Ltd.

Active, not recruiting

Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners (SUNFLOWER)

X-Linked Hypophosphatemia

Japan
JCR Pharmaceuticals Co., Ltd.

Completed

A Study of JR-141 in Patients With Mucopolysaccharidosis Type II

Mucopolysaccharidosis II

Japan
Otsuka Pharmaceutical Development & Commercialization...
Otsuka Pharmaceutical Co., Ltd.

Completed

Observational Study in Patients With Autosomal Dominant Polycystic Kidney Disease (OVERTURE)

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

United States, Argentina, Australia, Belgium, Brazil, Canada, Czech Republic, France, Germany, Italy, Japan, Netherlands, Norway, Poland, Romania, Spain, Sweden, Switzerland, Turkey, United Kingdom
Novo Nordisk A/S

Completed

Non-Interventional Study of NovoSeven® Used in Patients With Haemophilia A and B With Inhibitors When Undergoing Surgery

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Japan
Novo Nordisk A/S

Completed

Non-Interventional Study of NovoSeven® Used in Patients With Haemophilia A and B With Inhibitors Under Normal Clinical Practice

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Japan
Novo Nordisk A/S

Completed

Non-Interventional Study of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With Inhibitors

Congenital Bleeding Disorder | Haemophilia A With Inhibitors | Haemophilia B With Inhibitors

Japan
Bayer

Completed

A Single Escalating Dose and Multiple Dose Study of BAY 1093884 in Subjects With Severe Hemophilia Types A or B, With or Without Inhibitors

Hemophilia A | Hemophilia B

Ukraine, United Kingdom, Bulgaria, Germany, Japan
Baxalta now part of Shire
Takeda

Completed

RIXUBIS Drug Use-Result Survey (Japan)

Hemophilia B

Japan
Genzyme, a Sanofi Company

Completed

A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.

Fabry Disease

Japan
JCR Pharmaceuticals Co., Ltd.

Completed

A Study of JR-141 in Patients With Mucopolysaccharidosis II

Mucopolysaccharidosis II

Japan
Novo Nordisk A/S

Completed

Investigating Safety and Pharmacokinetics of 2 Different Single Doses of NNC128-0000-2011 in Haemophilia A or B Patients

Congenital Bleeding Disorder | Haemophilia A | Haemophilia B

Spain, Germany, Japan
JCR Pharmaceuticals Co., Ltd.

Active, not recruiting

An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type II

Mucopolysaccharidosis II

Japan
Weill Medical College of Cornell University
Bayer; University Hospital, Bonn

Completed

Females With Severe or Moderate Hemophilia A or B: an International Multi-center Study

Hemophilia A | Hemophilia B

United States, Israel, Australia, Italy, Sweden, Germany, Japan, Netherlands, Taiwan
Baxalta now part of Shire

Completed

Efficacy and Safety Study of Prophylactic Versus On-Demand Treatment With Feiba NF in Subjects With Hemophilia A or B and a High Titer Inhibitor

Hemophilia A | Hemophilia B | Hemophilia A or B With Inhibitors

Poland, United States, Bulgaria, Romania, Japan, Russian Federation, New Zealand, Croatia, Ukraine, Brazil
Reata, a wholly owned subsidiary of Biogen

Terminated

A Trial of Bardoxolone Methyl in Patients With ADPKD - FALCON (FALCON)

Autosomal Dominant Polycystic Kidney | ADPKD

United States, Spain, United Kingdom, Australia, France, Japan, Germany, Belgium, Czechia, Italy
Kyowa Kirin Co., Ltd.

Completed

A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia

X-linked Hypophosphatemic Rickets/Osteomalacia

Japan, Korea, Republic of
Novo Nordisk A/S

Enrolling by invitation

Post-marketing Surveillance (Use Result Surveillance) With Refixia®

Haemophilia B

Japan, Denmark
Genzyme, a Sanofi Company

Completed

A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease

Fabry Disease

Japan
Kyowa Kirin Co., Ltd.

Completed

A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia

X-linked Hypophosphatemic Rickets/Osteomalacia

Japan

Clinical Trials on Autosomal or Sex Linked Recessive Genetic Disease in Japan

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