Clinical trials: Rare Genetic Disorders
Huntington Disease
A Study to Evaluate the Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD)
The primary goal of this study is to evaluate the safety and pharmacodynamic effects of PTC518 compared with placebo in participants with HD.
- Trial name
- NCT05358717
- Testing
- PTC518
- Where
- 28 sites in United States, Australia and 9 more
- Volunteers
- 159 people
- Sponsor
- Novartis Pharmaceuticals
Tay-Sachs Disease, Sandhoff Disease
A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2
Primary Objectives: Primary population (adult participants with late-onset GM2 gangliosidosis): To assess the efficacy and pharmacodynamics (PD) of daily oral dosing of venglustat when administered over a 104-week period…
- Trial name
- AMETHIST (NCT04221451)
- Testing
- venglustat GZ402671
- Where
- 23 sites in United States, Argentina and 11 more
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Duchenne Muscular Dystrophy (DMD)
A Study to Assess Safety/Tolerability, pk, Effects on Histology, Clinical Parameters of Givinostat in Children With DMD
The primary objective of Parts 1 and 2 of the study were to establish the histologic effects of givinostat administered chronically at the selected daily dose.
- Trial name
- NCT01761292
- Testing
- Givinostat
- Where
- 4 sites in Italy
- Volunteers
- 20 people
- Sponsor
- Italfarmaco
Epilepsy
Open-Label PoC Trial of Ganaxolone in Children With PCDH19 Female Pediatric Epilepsy and Other Rare Genetic Epilepsies
To evaluate the efficacy of open-label ganaxolone as adjunctive therapy for uncontrolled seizures in female children with PCDH19 mutation and other rare genetic epilepsies in an open-label proof-of-concept study.
- Trial name
- NCT02358538
- Testing
- Ganaxolone
- Where
- 10 sites in United States, Italy
- Volunteers
- 30 people
- Sponsor
- Marinus Pharmaceuticals
Beta-thalassemia Major, Hemosiderosis
Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration)
To allow patients treated with deferasirox in the core study to continue iron chelation therapy for 2 years or until the drug became locally commercially available.
- Conditions
- Beta-thalassemia Major, Hemosiderosis, Iron Overload, Rare Anemia
- Trial name
- ESCALATOR (NCT00171301)
- Testing
- Deferasirox
- Where
- 5 sites in Egypt, Lebanon and 3 more
- Volunteers
- 233 people
- Sponsor
- Novartis Pharmaceuticals
Osteogenesis Imperfecta
Post-market Observational Study on JTIN Telescopic Nail in Osteogenesis Imperfecta Pediatric Patients
This study has been planned as part of the Orthofix Srl post-market active surveillance plan for the collection of data on both the clinical performance and the safety profile of the JTIN.
- Trial name
- JTIN (NCT05612139)
- Testing
- JTIN implantation surgery
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Orthofix s.r.l.
Genetic Obesity, Obesity
Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of Obesity
The purpose of the study was to determine the effect of setmelanotide (RM-493) on weight, hunger assessments, and other factors in participants with rare genetic disorders of obesity.
- Conditions
- Genetic Obesity, Obesity, Obesity Due to Melanocortin 4 Receptor Deficiency
- Trial name
- NCT03013543
- Testing
- Setmelanotide
- Where
- 58 sites in United States, Canada and 7 more
- Volunteers
- 213 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Cystinosis
Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT01000961
- Testing
- Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103)
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 43 people
- Sponsor
- Amgen
Bardet-Biedl Syndrome, POMC Deficiency Obesity
Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
This is a phase 3 open-label, clinical study to evaluate the efficacy, safety and tolerability of setmelanotide over 1 year of treatment, in pediatric participants aged 2 to <6 years with obesity due to either biallelic variants…
- Conditions
- Bardet-Biedl Syndrome, POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity
- Trial name
- NCT04966741
- Testing
- Setmelanotide
- Where
- 6 sites in United States, Australia and 2 more
- Volunteers
- 12 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
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.
Sly Syndrome, MPS VII
A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
The primary objective of the study is to evaluate the long-term safety of UX003 in subjects with MPS 7.
- Conditions
- Sly Syndrome, MPS VII, Mucopolysaccharidosis, Mucopolysaccharidosis VII
- Trial name
- NCT02432144
- Testing
- UX003
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Dravet Syndrome, Lennox Gastaut Syndrome
A Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut Syndrome
This is an international, multicenter, open-label, long-term safety study of ZX008 in subjects with Dravet syndrome, Lennox-Gastaut syndrome or epileptic encephalopathy
- Conditions
- Dravet Syndrome, Lennox Gastaut Syndrome, Epileptic Encephalopathy
- Trial name
- NCT03936777
- Testing
- ZX008 (Fenfluramine Hydrochloride)
- Where
- 71 sites in United States, Australia and 12 more
- Volunteers
- 412 people
- Sponsor
- Zogenix, Inc.
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
Cystinosis
Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate immediate release) which must be taken every…
- Trial name
- NCT01197378
- Testing
- Cysteamine Bitartrate Delayed-release Capsules
- Where
- 10 sites in United States, France and 1 more
- Volunteers
- 60 people
- Sponsor
- Amgen
Multiple Osteochondroma, Ollier Disease
Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy
Background Individuals with rare skeletal disorders frequently experience psychological distress, social isolation, unmet needs, and significant challenges due to limited treatment options.
- Conditions
- Multiple Osteochondroma, Ollier Disease, Osteogenesis Imperfecta
- Trial name
- PaS (NCT06397443)
- Testing
- 5-day sailing activity
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Istituto Ortopedico Rizzoli
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Mucopolysaccharidosis II, MPS II
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
The purpose of the study is to evaluate the safety, tolerability and effect on leukocyte and plasma Iduronate 2-Sulfatase (IDS) enzyme activity of ascending doses of SB-913.
- Trial name
- NCT03041324
- Testing
- SB-913
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Sangamo Therapeutics
Cystinosis
Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inheritable disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT00872729
- Testing
- Cystagon®, RP103
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Amgen
Homozygous Familial Hypercholesterolemia (HoFH)
A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)
This first-in-human study is intended to evaluate the safety and preliminary effectiveness of AAV (Adeno-associated virus)-based liver-directed gene therapy in the treatment of adults with Homozygous Familial Hypercholesterolemia…
- Trial name
- NCT02651675
- Testing
- AAV directed hLDLR gene therapy
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 9 people
- Sponsor
- REGENXBIO Inc.
Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM)
Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)
This study will evaluate the safety and efficacy of RAD001 in treating patients with Angiomyolipoma associated with Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis.
- Trial name
- EXIST-2 (NCT00790400)
- Testing
- Everolimus (RAD001)
- Where
- 25 sites in United States, Canada and 9 more
- Volunteers
- 118 people
- Sponsor
- Novartis Pharmaceuticals