Clinical Trials on X-linked Severe Combined Immunodeficiency in Australia

Total 150 results

Leiden University Medical Center
ZonMw: The Netherlands Organisation for Health Research and Development; Horizon...

Recruiting

Phase I/II Clinical Trial Stem Cell Gene Therapy in RAG1-Deficient SCID (RAG1-SCID)

Severe Combined Immunodeficiency Due to RAG1 Deficiency

Spain, Netherlands, Italy, Poland, Australia, Turkey, United Kingdom
Murdoch Childrens Research Institute
University of Sydney; Sydney Children's Hospitals Network; Women's and Children... and other collaborators

Active, not recruiting

Mackenzie's Mission: The Australian Reproductive Carrier Screening Project

Autosomal Recessive Disorder | X-Linked Genetic Diseases

Australia
Center for Eye Research Australia

Completed

Pilot Study of a Suprachoroidal Retinal Prosthesis

Retinitis Pigmentosa | Choroideremia

Australia
Anavex Life Sciences Corp.

Completed

ANAVEX2-73 Study in Patients With Rett Syndrome (AVATAR)

Rett Syndrome

Australia, United Kingdom
Medical University of Vienna

Completed

Effects of Creatine Supplementation in Rett Syndrome

Rett Syndrome

Austria
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, United Kingdom, Japan, Italy, Australia, Bulgaria, Czechia, Netherlands, Poland
Kiora Pharmaceuticals, Inc.

Recruiting

A Phase I/II Dose-escalating Study of the Safety, Tolerability and Efficacy of KIO-301 Administered Intravitreally to Patients With Retinitis Pigmentosa and Choroideremia (ABACUS) (ABACUS)

Retinitis Pigmentosa | Choroideremia

Australia
Newron Pharmaceuticals SPA

Terminated

Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms (STARS)

Rett Syndrome

United States, India, United Kingdom, Australia, Italy
Zynerba Pharmaceuticals, Inc.

Recruiting

Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults With Fragile X Syndrome (RECONNECT)

Fragile X Syndrome

United States, Australia, United Kingdom, Ireland
Healx Limited

Withdrawn

Investigation of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) in Male Fragile X Syndrome Patients Aged 13-40 (IMPACT-FXS)

Fragile X Syndrome

United States, Australia
Anavex Life Sciences Corp.
Anavex Australia Pty Ltd.; Anavex Germany GmbH

Completed

ANAVEX2-73 Study in Pediatric Patients With Rett Syndrome (EXCELLENCE)

Rett Syndrome

Canada, Australia, United Kingdom
Mobius Medical Pty Ltd.
University of Melbourne; Australian National University; Centre for Eye Research... and other collaborators

Completed

Study of a Suprachoroidal Retinal Prosthesis

Retinitis Pigmentosa | Choroideremia

Australia
Zynerba Pharmaceuticals, Inc.

Completed

Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX) (CONNECT-FX)

Fragile X Syndrome

United States, New Zealand, Australia
Center for Eye Research Australia
Australian National University; Commonwealth Scientific and Industrial Research... and other collaborators

Enrolling by invitation

Longitudinal Study of a Bionic Eye

Retinitis Pigmentosa | Choroideremia

Australia
NeuroVia, Inc.

Withdrawn

Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy

Australia, Argentina, United Kingdom, Colombia, Chile, France, Russian Federation, Ukraine
Novartis Pharmaceuticals

Terminated

Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome

Fragile X Syndrome

Germany, United States, Switzerland, Australia, Canada, Denmark, France, Italy, United Kingdom, Spain
Zynerba Pharmaceuticals, Inc.

Enrolling by invitation

Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS

Fragile X Syndrome

United States, United Kingdom, New Zealand, Australia
bluebird bio

Active, not recruiting

Long-term Follow-up of Participants With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product

Cerebral Adrenoleukodystrophy (CALD) | Adrenoleukodystrophy (ALD) | X-Linked Adrenoleukodystrophy (X-ALD)

United States, Argentina, Australia, Brazil, France, Germany, Netherlands, United Kingdom, Italy
Novartis Pharmaceuticals

Completed

Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome

Fragile X Syndrome

United States, Switzerland, Germany, Australia, Canada, Denmark, France, Italy, Spain, United Kingdom
Bioverativ Therapeutics Inc.
Swedish Orphan Biovitrum

Completed

Study of Recombinant Factor IX Fc Fusion Protein (rFIXFc) in Participants With Hemophilia B

Severe Hemophilia B

Sweden, United States, France, Italy, Russian Federation, United Kingdom, Germany, China, Poland, Japan, Australia, Brazil, Canada, India, South Africa, Hong Kong, Belgium
Novartis Pharmaceuticals

Terminated

Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)

Fragile X Syndrome

United States, Belgium, Australia, Israel, Switzerland, Germany, Denmark, Italy, Netherlands, Spain, Sweden, United Kingdom, France
Bioverativ Therapeutics Inc.

Completed

Long-Term Safety and Efficacy of rFIXFc in the Prevention and Treatment of Bleeding Episodes in Previously Treated Participants With Hemophilia B (B-YOND)

Severe Hemophilia B

United States, Italy, Belgium, Australia, Brazil, Hong Kong, India, Ireland, Japan, South Africa, United Kingdom, Netherlands, Sweden, Canada, Poland, China, France, Germany
Jazz Pharmaceuticals
GW Pharmaceuticals

Terminated

A Long-term Safety Study of Cannabidiol Oral Solution (GWP42003-P, CBD-OS) in Patients With Rett Syndrome

Rett Syndrome | RTT

United States, Canada, Italy, Spain, United Kingdom, Australia
Novartis Pharmaceuticals

Completed

Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome

Fragile X Syndrome

United States, Belgium, Australia, Israel, Switzerland, Germany, France, Canada, Denmark, Indonesia, Italy, Netherlands, Spain, Sweden, Turkey, United Kingdom
Medical University of Graz

Completed

Evaluation of an App for Smartphones for People With a Bipolar Affective Disorder

Bipolar Affective Disorder

Austria
bluebird bio

Completed

A Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD)

Cerebral Adrenoleukodystrophy (CALD)

United States, Germany, Argentina, Australia, France, United Kingdom
Pfizer

Active, not recruiting

Study of Fordadistrogene Movaparvovec in Early Stage Duchenne Muscular Dystrophy

Muscular Dystrophy, Duchenne

United States, Australia
Shire

Active, not recruiting

Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094

Hunter Syndrome

United States, Spain, Canada, United Kingdom, Mexico, Australia, France
Spark Therapeutics
Children's Hospital of Philadelphia; University of Pittsburgh; St. James's Hospital... and other collaborators

Terminated

Hemophilia B Gene Therapy With AAV8 Vector

Hemophilia B

United States, Australia
CSL Behring

Completed

A Safety, Efficacy and Pharmacokinetics Study of a Recombinant Fusion Protein Linking Coagulation Factor IX With Albumin (rIX-FP) in Children With Hemophilia B

Hemophilia B

Germany, Australia, Italy, Israel, Czech Republic, Spain, France, Canada, Austria, Russian Federation
Spark Therapeutics

Completed

Lead-in Study to Collect Prospective Efficacy and Safety Data of Current FVIII Prophylaxis Replacement Therapy in Adult Hemophilia A Participants

Hematologic Diseases | Hemophilia A | Blood Coagulation Disorders, Inherited | Coagulation Protein Disorders | Hemorrhagic Disorders | Genetic Diseases, Inborn | Genetic Diseases, X-Linked | Blood Coagulation Disorder | Factor VIII Deficiency

United States, Australia, Thailand, Canada
Hospital Rudolfstiftung
Oesterreichische Muskelforschung

Completed

Myocardial Involvement in Carriers of Duchenne Muscular Dystrophy: An MRI-study

Carrier of Duchenne Muscular Dystrophy

Austria
Pfizer

Completed

A Gene Therapy Study for Hemophilia B

Hemophilia B

United States, Australia
Cooperative International Neuromuscular Research...
Washington University School of Medicine; Children's National Research Institute and other collaborators

Completed

Comparative Study of Clinical Endpoint in DMD: Handheld Myometry (HHM) Versus CINRG Quantitative Measurement System (CQMS)

Duchenne Muscular Dystrophy

United States, Australia, Italy
Kyowa Kirin, Inc.
Kyowa Kirin Co., Ltd.

Completed

Efficacy and Safety of Burosumab (KRN23) Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH)

X-Linked Hypophosphatemia

Korea, Republic of, Canada, United States, Australia, Japan, United Kingdom, Sweden
Shire

Completed

Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment (AIM-IT)

Hunter Syndrome

Spain, United States, Canada, United Kingdom, France, Australia, Mexico
Bioverativ Therapeutics Inc.
Swedish Orphan Biovitrum

Completed

Study of Recombinant Coagulation Factor IX Fc Fusion Protein, BIIB029, in Previously Treated Pediatric Participants With Hemophilia B (Kids B-LONG)

Hemophilia B

United States, United Kingdom, South Africa, Netherlands, Ireland, Australia
Takeda

Available

Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome

Hunter Syndrome

United States, Australia, Mexico, Spain, United Kingdom
The University of Queensland

Recruiting

The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis

Pulmonary Fibrosis | Dyskeratosis Congenita | Telomere Shortening | Telomere Disease

Australia
Percheron Therapeutics

Recruiting

A Study of ATL1102 or Placebo in Participants With Non-ambulatory Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Turkey, United Kingdom, Australia, Serbia, Bulgaria
Kyowa Kirin Pharmaceutical Development Ltd

Active, not recruiting

Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Patients Less Than 1 Year of Age

X-linked Hypophosphatemia (XLH)

Sweden, Spain, United Kingdom, Italy, Austria, France
ReveraGen BioPharma, Inc.
University of Pittsburgh; Cooperative International Neuromuscular Research...

Completed

Long-term Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)

Duchenne Muscular Dystrophy

United States, Canada, United Kingdom, Sweden, Australia, Israel
Pixium Vision SA

Completed

Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy (IRIS-1)

Retinitis Pigmentosa | Choroideremia | Cone Rod Dystrophy

Austria, France, Germany
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
Cooperative International Neuromuscular Research...

Completed

Study of Daily Pentoxifylline as a Rescue Treatment in Duchenne Muscular Dystrophy

Muscular Dystrophy, Duchenne

United States, Canada, Argentina, Australia, Israel, Italy
Amicus Therapeutics

Completed

A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese Subjects

Fabry Disease

Australia
Pfizer

Recruiting

Safety and Effectiveness of Giroctocogene Fitelparvovec or Fidanacogene Elaparvovec in Patients With Hemophilia A or B Respectively

Hemophilia A | Hemophilia B

Australia, United States, Turkey
GlaxoSmithKline

Completed

Phase II Doubleblind Exploratory Study of GSK2402968 in Ambulant Subjects With Duchenne Muscular Dystrophy

Muscular Dystrophies

Germany, Belgium, Turkey, Netherlands, Spain, Israel, Australia, France, United Kingdom
4D Molecular Therapeutics

Active, not recruiting

4D-310 in Adults With Fabry Disease and Cardiac Involvement

Fabry Disease

Taiwan, Australia
Amicus Therapeutics

Completed

A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease

Fabry Disease

Australia, Brazil

Clinical Trials on X-linked Severe Combined Immunodeficiency in Australia

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