Clinical trials: Brain Diseases, Metabolic, Inborn
Friedreich's Ataxia
EPI-743 in Friedreich's Ataxia Point Mutations
The purpose of this study is to evaluate the effects of EPI-743 in patients with Friedreich's Ataxia point mutations
- Trial name
- NCT01962363
- Testing
- EPI-743
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- University of South Florida
Bardet-Biedl Syndrome
Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS; OMIN #209900) is a rare genetic disorder characterized by six core features: rod-cone dystrophy (retinitis pigmentosa), polydactyly, obesity, genital anomalies, renal anomalies, and learning…
- Trial name
- NCT05400278
- Testing
- No intervention
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital
Glycogen Storage Disease, Pompe Disease
Pompe Lactation Sub-Registry
The objective is to determine if alglucosidase alfa is present in breast milk from mothers with Pompe Disease being treated with alglucosidase alfa and to measure breast milk production and composition in women with Pompe Disease…
- Trial name
- NCT00566878
- Testing
- alglucosidase alfa
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
Gaucher Disease, Acid SphingoMyelinase Deficiency
GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology.
- Trial name
- NCT05992532
- Where
- 23 sites in Spain
- Volunteers
- 210 people
- Sponsor
- Fundación Española de Hematología y Hemoterapía
Fabry Disease
Therapeutic Implications of CMR Low Native T1 in Non-treated Non-hypertrophic Females With Fabry Disease (FD)
Females with Fabry disease are characterized by variable phenotypes regarding time of onset, severity of symptoms and progression of disease due to the random inactivation of X chromosome leading to a cellular mosaic of mutated…
- Trial name
- NATI-Fab (NCT07872852)
- Testing
- Decision tree for initiating treatment
- Where
- 12 sites in France
- Volunteers
- 60 people
- Sponsor
- University Hospital, Bordeaux
Gaucher Disease
The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease
The purpose of this study is to compare and evaluate the efficacy and safety of ISU302, an investigational product, and Cerezyme®, comparator, for Type 1 Gaucher Disease patients
- Trial name
- NCT01161914
- Testing
- Cerezyme®, ISU302
- Sponsor
- ISU Abxis Co., Ltd.
Wilson Disease
Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson's Disease
This is a multicenter, randomized, open-label study with an active standard-of-care comparator (penicillamine)
- Trial name
- NCT03539952
- Testing
- Penicillamine (D1-W12), TETA 4HCL (W12-60), Penicillamine (W12-W60)
- Where
- 15 sites in United States, Belgium and 7 more
- Volunteers
- 77 people
- Sponsor
- Orphalan
Mevalonic Aciduria, Mevalonate Kinase Deficiency
Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
Participants wanted for study of mevalonate kinase deficiency (MKD), mevalonic aciduria, or hyperimmunoglobulinemia with periodic fever syndrome (HIDS).
- Conditions
- Mevalonic Aciduria, Mevalonate Kinase Deficiency, Immune System Diseases, Periodic Fever Syndromes, Hereditary
- Trial name
- NCT00260299
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Oregon Health and Science University
Fabry Disease
Replagal Enzyme Replacement Therapy for Children With Fabry Disease
Primary Objective(s): To assess the safety of Replagal at a dose of 0.2 mg/kg administered over 40 (+/-10) minutes in children with Fabry disease To assess the effect of Replagal on heart rate variability in patients 7 to 17…
- Trial name
- NCT00084084
- Testing
- Agalsidase alfa
- Where
- 14 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Shire
Amyloidosis, Amyloid Cardiomyopathy
Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
Phase 3 efficacy and safety study to evaluate acoramidis (AG10) HCl 800 mg administered orally twice a day compared to placebo in subjects with symptomatic Transthyretin Amyloid Cardiomyopathy (ATTR-CM).
- Conditions
- Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis, Cardiomyopathies
- Trial name
- ATTRibute-CM (NCT03860935)
- Testing
- acoramidis
- Where
- 104 sites in United States, Australia and 16 more
- Volunteers
- 632 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Glycogen Storage Disease Type II, Pompe Disease
A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
GSD-II (also known as Pompe disease) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00051935
- Testing
- Alglucosidase alfa
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
Obesity, Genetic Disorder
Brain-Derived Neurotrophic Factor in Obesity and Brain Function
Background: Prader-Willi syndrome (PWS) and MC4R genetic mutations are two conditions that can cause problems with appetite regulation. People with PWS often have behavior and thinking problems.
- Conditions
- Obesity, Genetic Disorder, Mental Retardation, Developmental Delay
- Trial name
- NCT01517048
- Where
- 2 sites in United States, Canada
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Gale, Severe Forms of Scabies
Efficacy Study Between Two Different Dosages of an Antiparasitic in Patients With Crusted Scabies
Severe forms of scabies (crusted scabies and profuse scabies) require a specific treatment. Ivermectin is a recommended treatment in common forms of scabies and represents a promising treatment in crusted scabies in case reports.
- Conditions
- Gale, Severe Forms of Scabies, Oral Parasitic Drug, Ivermectin
- Trial name
- GALECRUSTED (NCT02841215)
- Testing
- Ivermectin 200 µg/kg, Ivermectin 400 µg/kg
- Where
- France
- Volunteers
- 133 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Leigh Syndrome
A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
The goal of this clinical trial is to investigate oral TTI-0102 to evaluate its pharmacokinetics, safety, and preliminary efficacy in patients with Leigh syndrome spectrum, in three sequences.
- Trial name
- NCT06990984
- Testing
- TTI-0102: cysteamine-pantetheine disulfide, D-Mannitol
- Volunteers
- 18 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
Pompe Disease
Drug-drug Interaction Study
This study evaluates drug-drug interactions between AT2220 (duvoglustat) and recombinant human alpha-glucosidase (rhGAA, also known as alglucosidase alfa) in participants with Pompe Disease.
- Trial name
- NCT01380743
- Testing
- duvoglustat, rhGAA
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- Amicus Therapeutics
Friedreich Ataxia
A Double-Blind, Placebo-Controlled, Dose Exploration Study of CTI-1601 in Adult Subjects With Friedreich's Ataxia
To evaluate the safety and tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of subcutaneous (SC) administration of CTI-1601 over 28 days in subjects with Friedreich's ataxia (FRDA).
- Trial name
- NCT05579691
- Testing
- CTI-1601
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Larimar Therapeutics, Inc.
Ataxia Telangiectasia
Comparative Bioavailability of Betamethasone Oral Solution Metered Spray (GTX-102) in Healthy Subjects
A Randomized, Open-label, Crossover Study to Evaluate the Comparative Bioavailability, Pharmacokinetics, and Safety of GTX-102 Administered as an Oral Spray Compared to Intramuscular Injection - betamethasone and an Oral Solution…
- Trial name
- NCT05531890
- Testing
- GTX-102 medium dose fast Period 1 and Period 2, GTX-102 medium dose slow Period 1 and Period 2, GTX-102 high dose fast Period 1 and Period 2
- Where
- Canada
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Grace Therapeutics Inc.
Metachromatic Leukodystrophy (MLD)
An Efficacy and Safety Study of HGT-1110 in Participants With Metachromatic Leukodystrophy
The purpose of this study is to collect long-term safety data in participants with metachromatic leukodystrophy (MLD) who are receiving HGT-1110 and have participated in Study HGT-MLD-070 (NCT01510028) through Week 40.
- Trial name
- NCT01887938
- Testing
- HGT-1110
- Where
- 15 sites in Australia, Brazil and 5 more
- Volunteers
- 24 people
- Sponsor
- Shire
Phenylketonurias, Hyperphenylalaninaemia, Type I
Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or Hyperphenylalaninemia
This study centres around a new one-a-day phenylalanine-free protein substitute for phenylketonuria patients. Fifty eligible adults (≥ 16 years) with proven phenylketonuria or hyperphenylalaninemia will be recruited and randomly…
- Trial name
- NCT03167697
- Testing
- Synergy, Routine
- Where
- 6 sites in United Kingdom
- Volunteers
- 14 people
- Sponsor
- Nutricia UK Ltd
Adrenoleukodystrophy
A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients
This is a Phase II/III, randomized, double-blind, placebo-controlled, multicenter, two parallel-group study in male patients with the adrenomyeloneuropathy (AMN) phenotype of X-linked adrenoleukodystrophy (X-ALD) to assess the…
- Trial name
- Advance (NCT03231878)
- Testing
- Leriglitazone
- Where
- 10 sites in United States, France and 6 more
- Volunteers
- 116 people
- Sponsor
- Minoryx Therapeutics, S.L.
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