Clinical trials: Congenital Abnormalities
Alpha-Mannosidosis
Analysis of Velmanase Alfa (Lamzede®)'s Effects in the Body of Children With Alpha-Mannosidosis Under the Age 3
The goal of this observational study is to learn the effects of the drug velmanase alfa (Lamzede®) in the bodies of children under the age of 3 with Alpha-Mannosidosis.
- Trial name
- LAMPO(0-3) (NCT06184503)
- Testing
- Velmanase Alfa
- Where
- 2 sites in United States
- Volunteers
- 5 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Duchenne Muscular Dystrophy
Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy
In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein.
- Trial name
- NCT00264888
- Testing
- PTC124
- Where
- 3 sites in United States
- Volunteers
- 38 people
- Sponsor
- PTC Therapeutics
Velo-cardio-facial Syndrome, Psychosis
Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome
This is an exploratory clinical investigation. The objectives of this study are to evaluate the safety, steady-state pharmacokinetics, and efficacy of metyrosine (Demser®) for the treatment of psychosis in patients with…
- Trial name
- NCT01127503
- Testing
- Metyrosine
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Bausch Health Americas, Inc.
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency
Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
The purpose of this study is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency and the early-onset form of adenosine triphosphate binding cassette transporter subfamily C…
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets
- Trial name
- NCT07745179
- Where
- 8 sites in United States, France and 2 more
- Volunteers
- 23 people
- Sponsor
- Inozyme Pharma
Urea Cycle Disorder
A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders
This is an open-label study consisting of a transition period to RAVICTI, followed by a safety extension period for at least 6 months and up to 24 months of treatment with RAVICTI, depending on age at enrollment.
- Trial name
- NCT02246218
- Testing
- RAVICTI
- Where
- 17 sites in United States, Canada
- Volunteers
- 27 people
- Sponsor
- Amgen
Becker Muscular Dystrophy
Open-Label Extension of EDG-5506 in Participants With Becker Muscular Dystrophy
EDG-5506-203 MESA is an open-label extension study to assess the long-term effect of sevasemten (EDG-5506) on safety, biomarkers, and functional measures in adults and adolescents with Becker muscular dystrophy
- Trial name
- MESA (NCT06066580)
- Testing
- Sevasemten
- Where
- 48 sites in United States, Australia and 10 more
- Volunteers
- 260 people
- Sponsor
- Edgewise Therapeutics, Inc.
Breast Cancer
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
This study evaluated whether the addition of daily BKM120 to weekly paclitaxel was effective and safe in treating patients with HER2- locally advanced or metastatic breast cancer.
- Trial name
- BELLE-4 (NCT01572727)
- Testing
- Paclitaxel, BKM120
- Where
- 112 sites in United States, Australia and 20 more
- Volunteers
- 416 people
- Sponsor
- Novartis Pharmaceuticals
Retinopathy of Prematurity (ROP)
Long-term Safety and Efficacy Outcome Study Comparing Children Previously Enrolled in Study ROPP-2008-01 for the Prevention of Retinopathy of Prematurity (ROP)
The main purpose of this study is to evaluate the long-term efficacy and safety outcomes following short-term exposure to rhIGF-1/rhIGFBP-3 versus standard neonatal care in Study ROPP-2008-01 (NCT01096784).
- Trial name
- PEDAL (NCT02386839)
- Testing
- rhIGF-1/rhIGFBP-3
- Where
- 16 sites in United States, Italy and 4 more
- Volunteers
- 76 people
- Sponsor
- Shire
Sickle Cell Disease
A Study of Prasugrel in Pediatric Participants With Sickle Cell Disease (SCD)
The main purpose of the study is to evaluate the efficacy and safety of the study drug known as prasugrel for the reduction of Vaso-Occlusive Crisis events in pediatric participants with sickle cell disease.
- Trial name
- NCT01794000
- Testing
- Prasugrel
- Where
- 50 sites in United States, Belgium and 12 more
- Volunteers
- 341 people
- Sponsor
- Eli Lilly and Company
Mucopolysaccharidosis I, Hurler Syndrome
Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease
This is a multi-center, open label, study conducted to evaluate the safety of laronidase administered by intravenous drip infusion in Japanese patients with MPS I disease.
- Conditions
- Mucopolysaccharidosis I, Hurler Syndrome, Hurler-Scheie Syndrome, Scheie Syndrome
- Trial name
- NCT00258011
- Testing
- Aldurazyme (Recombinant Human Alpha-L-Iduronidase)
- Where
- 2 sites in Japan
- Volunteers
- 3 people
- Sponsor
- Genzyme, a Sanofi Company
Hemophilia A
Efficacy and Safety Study of a Recombinant Protein-Free Manufactured Factor VIII (rAHF-PFM) in Previously Untreated Hemophilia A Patients
The purpose of this study is to evaluate whether Antihemophilic factor, recombinant, manufactured protein-free (rAHF-PFM) is effective and safe in the treatment of hemophilia A patients who have not been treated with factor VIII…
- Trial name
- NCT00157157
- Testing
- Recombinant Antihemophilic Factor Manufactured and Formulated without Added Human or Animal Proteins (rAHF-PFM)
- Where
- 35 sites in United States, Austria and 8 more
- Volunteers
- 66 people
- Sponsor
- Baxalta now part of Shire
Methylmalonic Acidemia, Propionic Acidemia
"The MaP Study": Mapping the Patient Journey in MMA and PA
Longitudinal, exploratory, natural history study of patients with MMA due to mut deficiency and PA to characterize the changes in blood disease biomarkers over time and the frequency and severity of clinical events related to…
- Trial name
- NCT03484767
- Where
- 17 sites in United States, France and 2 more
- Volunteers
- 97 people
- Sponsor
- ModernaTX, Inc.
Atopic Dermatitis
A Phase I Study of HY209 Gel in Healthy Male Volunteers for Atopic Dermatitis
A randomized, double-blind, placebo-controlled single and multiple dosing, dose escalation phase I clinical trial to investigate the safety/tolerability and pharmacokinetics of HY209 gel after transdermal administration in…
- Trial name
- Shaperon (NCT03492398)
- Testing
- HY209
- Where
- South Korea
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Shaperon
Hemophilia
First-in-Human and Proof-of-Mechanism Study of ARC19499 Administered to Hemophilia Patients
The purpose of this study is to examine the safety, tolerability and the way the body handles various single and multiple doses of ARC19499 in patients with hemophilia.
- Trial name
- NCT01191372
- Testing
- ARC19499
- Where
- United Kingdom
- Volunteers
- 17 people
- Sponsor
- Baxalta now part of Shire
Birth Defects, Pregnancy Complications
UCB Antiepileptic Drugs (AED) Pregnancy Registry (Formerly the Keppra® Pregnancy Registry)
This is a prospective, observational, exposure-registration and follow-up study of women and their offspring exposed to Keppra® (levetiracetam) and Keppra XR® at the time of conception (i.e., any time from the first day of the…
- Conditions
- Birth Defects, Pregnancy Complications, Epilepsy, Seizures
- Trial name
- NCT00345475
- Where
- United States
- Volunteers
- 516 people
- Sponsor
- UCB Pharma
Gaucher Disease, Type 1
Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00553631
- Testing
- velaglucerase alfa, imiglucerase
- Where
- 11 sites in United States, Argentina and 7 more
- Volunteers
- 34 people
- Sponsor
- Shire
IgA Nephropathy, CKD Associated With Type 1 Diabetes
A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases - PHOENIX
This multi-center, open-label Phase 2 trial will study the safety, tolerability, and efficacy of bardoxolone methyl in qualified patients with the following rare chronic kidney diseases (CKD): CKD associated with type 1 diabetes…
- Conditions
- IgA Nephropathy, CKD Associated With Type 1 Diabetes, Focal Segmental Glomerulosclerosis, Autosomal Dominant Polycystic Kidney
- Trial name
- PHOENIX (NCT03366337)
- Testing
- Bardoxolone methyl capsules
- Where
- 30 sites in United States
- Volunteers
- 103 people
- Sponsor
- Biogen
Eczema, Atopic Dermatitis
A Study to Evaluate CLn® BodyWash As Added Therapy in Eczema Patients
The purpose of this study is to determine if CLn BodyWash, a novel new gel cleanser formulated with surfactants and preserved with sodium hypochlorite, is effective at decreasing severity, body surface area and itching for…
- Trial name
- CLeaN (NCT01714245)
- Where
- 2 sites in United States
- Volunteers
- 50 people
- Sponsor
- TopMD Skin Care, Inc.
End Stage Renal Disease, AV Fistula
Percutaneous Less Invasive AV Fistula for Vascular Access in ESRD
A prospective single-arm well-controlled study to evaluate the safety and effectiveness of a less invasive means of establishing vascular access to facilitate dialysis in patients with end stage renal disease.
- Conditions
- End Stage Renal Disease, AV Fistula, Fistula, End Stage Kidney Disease
- Trial name
- NCT02363972
- Testing
- Ellipsys Vascular Access Catheter
- Where
- 5 sites in United States
- Volunteers
- 103 people
- Sponsor
- Medtronic Endovascular
Metabolic Disease, Fabry Disease
Getting Global Rare Disease Insights Through Technology Study
This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders.
- Conditions
- Metabolic Disease, Fabry Disease, Gaucher Disease, Pompe Disease
- Trial name
- GRIT (NCT04758130)
- Testing
- Zamplo Digital Health Platform
- Where
- Canada
- Volunteers
- 150 people
- Sponsor
- M.A.G.I.C. Clinic LTD
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