Clinical trials: X-Linked
Hypophosphatemia, Familial, Hyperparathyroidism
Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets
The purpose of this study is to determine the effectiveness of paricalcitol, a form of synthetic vitamin D, in lowering parathyroid hormone (PTH) levels and reducing disease symptoms in children and adults with X-linked…
- Trial name
- NCT00417612
- Testing
- Paricalcitol
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Yale University
Fabry Disease
Safety and Efficacy of PRX-102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)
This is an open label switch over study to assess the safety and efficacy of PRX-102 (pegunigalsidase alfa). Patients treated with agalsidase alfa for at least 2 years and on a stable dose (>80% labelled dose/kg) for at least 6…
- Trial name
- NCT03018730
- Testing
- PRX-102 (pegunigalsidase alfa)
- Where
- 9 sites in Australia, Canada and 5 more
- Volunteers
- 22 people
- Sponsor
- Protalix
Duchenne Muscular Dystrophy (DMD)
Twice Weekly Steroids and Exercise as Therapy for DMD
The study team will determine the potential of low dose twice weekly prednisone and whether exercise training can synergize to delay disease progression and improve muscle strength/physical function in boys with Duchenne muscular…
- Trial name
- NCT04322357
- Testing
- Prednisone, Exercise Training on standard steroid regimen, Exercise training on twice-weekly steroids
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- University of Florida
Fabry Disease
A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme.
- Trial name
- NCT00196716
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 4 sites in Czechia, Estonia and 2 more
- Volunteers
- 21 people
- Sponsor
- Genzyme, a Sanofi Company
Muscular Dystrophy, Duchenne
A Randomized, Double-blind, Placebo-controlled Study of Delandistrogene Moxeparvovec (SRP-9001) for Duchenne Muscular Dystrophy (DMD)
The purpose of this study is to evaluate the safety and efficacy of exogenous gene transfer in DMD participants by measuring biological and clinical endpoints in three parts: two 48-week randomized, double-blinded…
- Trial name
- NCT03769116
- Testing
- delandistrogene moxeparvovec
- Where
- 2 sites in United States
- Volunteers
- 41 people
- Sponsor
- Sarepta Therapeutics, Inc.
Duchenne Muscular Dystrophy
Dose-Titration and Open-label Extension Study of SRP-4045 in Advanced Stage Duchenne Muscular Dystrophy (DMD) Patients
This is a first-in-human dose-titration and open-label extension study to assess safety, tolerability, and pharmacokinetics of SRP-4045 in advanced-stage Duchenne muscular dystrophy (DMD) patients with deletions amenable to exon…
- Trial name
- NCT02530905
- Testing
- SRP-4045
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Sarepta Therapeutics, Inc.
Hemophilia B
Study of Recombinant Coagulation Factor IX Fc Fusion Protein, BIIB029, in Previously Treated Pediatric Participants With Hemophilia B
The primary objective of the study is to evaluate the safety of Recombinant Human Coagulation Factor IX Fc Fusion Protein (rFIXFc) in previously treated pediatric subjects with hemophilia B.
- Trial name
- Kids B-LONG (NCT01440946)
- Testing
- rFIXFc, FIX
- Where
- 15 sites in United States, Australia and 4 more
- Volunteers
- 30 people
- Sponsor
- Bioverativ Therapeutics Inc.
Dyskeratosis Congenita, Aplastic Anemia
Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
Fludarabine-based preparative regimen followed by an allogeneic hematopoietic stem cell transplant using related or unrelated donor in persons 0-70 years of age diagnosed with dyskeratosis congenita or severe aplastic anemia who…
- Trial name
- NCT02162420
- Testing
- Alemtuzumab, Fludarabine, Cyclophosphamide
- Where
- United States
- Volunteers
- 61 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
NLRC4-MAS, XIAP Deficiency
Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency
This is a Phase 3 study to assess the safety and efficacy of Tadekinig alfa in patients with monogenic, interleukin-18 (IL 18) driven autoinflammation due to Nucleotide-binding oligomerization domain, leucine-rich repeat and…
- Trial name
- NCT03113760
- Testing
- Tadekinig alfa, 0.9% sodium chloride
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- AB2 Bio Ltd.
Fragile X Syndrome
Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)
The purpose of this study is to generate long-term safety, tolerability and efficacy data for AFQ056 in eligible adolescent patients with FXS who have participated in the CAFQ056B2214 study, the PK study CAFQ056B2131, or another…
- Trial name
- NCT01433354
- Testing
- AFQ056
- Where
- 28 sites in United States, Australia and 11 more
- Volunteers
- 119 people
- Sponsor
- Novartis Pharmaceuticals
Psychosis
Transcranial Direct Current Stimulation and Cognitive Remediation Therapy for Psychosis
The proposed pilot study is a randomized controlled study to assess effectiveness of transcranial direct current stimulation (tDCS) to enhance cognitive remediation therapy in patients with psychotic disorders. tDCS.
- Trial name
- NCT02085421
- Testing
- tDCS
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- University of Minnesota
Dyskeratosis Congenita, Aplastic Anemia
Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA
Transplantation with stem cells is a standard therapy in many centers around the world. Previous experience with stem cell transplantation therapy for leukemias, lymphomas, other cancers, aplastic anemia and other non-malignant…
- Trial name
- NCT00455312
- Testing
- Campath 1H, Cyclophosphamide, Fludarabine
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Duchenne Muscular Dystrophy
Proof of Concept Study to Assess Activity and Safety of SMT C1100 (Ezutromid) in Boys With Duchenne Muscular Dystrophy (DMD)
To Assess the Activity and Safety of SMT C1100 (Ezutromid) in Paediatric Male Participants with Duchenne Muscular Dystrophy (DMD).
- Trial name
- NCT02858362
- Testing
- Ezutromid
- Where
- 16 sites in United States, United Kingdom
- Volunteers
- 43 people
- Sponsor
- Summit Therapeutics
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Adrenoleukodystrophy
Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the clinical efficacy of combination glyceryl trierucate and glyceryl trioleate (Lorenzo's Oil) therapy in boys with X-linked adrenoleukodystrophy. II.
- Trial name
- NCT00004418
- Testing
- glyceryl trierucate/glyceryl trioleate
- Where
- 2 sites in United States
- Volunteers
- 126 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Hemophilia B
Study To Compare On-Demand Treatment To A Prophylaxis Regimen Of BeneFIX In Subjects With Moderately Severe to Severe Hemophilia B
The purpose of this study will be to determine if a once-weekly prophylaxis regimen of BeneFIX in subjects with moderately severe to severe Hemophilia B is safe and effective.
- Trial name
- NCT01335061
- Testing
- Nonacog alfa
- Where
- 17 sites in Bulgaria, Canada and 7 more
- Volunteers
- 25 people
- Sponsor
- Pfizer
Fabry Disease
A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease
This is a multi-center, open label, phase IV study conducted to evaluate the efficacy and safety of agalsidase beta (Fabrazyme [recombinant form]) administered by intravenous drip infusion in participants with cardiac Fabry…
- Trial name
- NCT00140621
- Testing
- Agalsidase beta
- Where
- 7 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Genzyme, a Sanofi Company
Congenital Bleeding Disorder, Haemophilia B
Safety and Efficacy of NNC-0156-0000-0009 in Haemophilia B Patients
This trial is conducted in Africa, Asia, Europe, Japan and North America. The aim of this trial is to evaluate the safety and efficacy, including pharmacokinetics (the rate at which the body eliminates the trial drug), of…
- Trial name
- paradigm™ 2 (NCT01333111)
- Testing
- nonacog beta pegol
- Where
- 43 sites in United States, Canada and 13 more
- Volunteers
- 74 people
- Sponsor
- Novo Nordisk A/S
Metastatic Castration Resistant Prostate Cancer
A Study of Rucaparib in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency
The purpose of this study is to determine how patients with metastatic castration-resistant prostate cancer, and evidence of a homologous recombination gene deficiency, respond to treatment with rucaparib.
- Trial name
- TRITON2 (NCT02952534)
- Testing
- Rucaparib
- Where
- 149 sites in United States, Australia and 10 more
- Volunteers
- 277 people
- Sponsor
- pharmaand GmbH
Rett Syndrome
Open-Label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome
To investigate the safety and tolerability of long-term treatment with oral trofinetide in girls and women with Rett syndrome
- Trial name
- LILAC™ (NCT04279314)
- Testing
- Trofinetide
- Where
- 21 sites in United States
- Volunteers
- 154 people
- Sponsor
- ACADIA Pharmaceuticals Inc.