Clinical trials: Inherited Genetic Conditions (Diagnosis)
HSP, Hereditary Spastic Paraplegia
Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration.
- Conditions
- HSP, Hereditary Spastic Paraplegia, Hereditary Spastic Paraparesis, Hereditary Spastic Paraplegia Type 50
- Trial name
- NCT06948019
- Testing
- BFB-101 (AAV9-CBh-AP4B1)
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- BlackfinBio Ltd
Chronic Stable Angina
Pharmacokinetics of AUX-001 40mg Once-daily in Healthy Subjects Under Fasting and Fed Conditions
Exploratory, single-dose, open-label, pharmacokinetic study to establish uptake, plasma levels safety and tolerability of orally administered AUX-001 on an empty stomach (i.e, fasting) as well as after a meal (i.e.
- Trial name
- NCT06249581
- Testing
- AUX-001 40mg once-daily
- Where
- Portugal
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Auxilius Pharma sp.z.o.o.
Pulmonary Emphysema in Alpha-1 PI Deficiency
Efficacy and Safety of Alpha1-Proteinase Inhibitor (Human), Modified Process (Alpha-1 MP) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency (AATD)
This is a multi-center, randomized, placebo-controlled, double blind clinical study to assess the efficacy and safety of two separate dose regimens of Alpha-1 MP versus placebo for 156 weeks (i.e., 3 years) using computed…
- Trial name
- SPARTA (NCT01983241)
- Testing
- Alpha-1 MP, 0.9% Sodium Chloride for Injection, USP
- Where
- 52 sites in United States, Argentina and 15 more
- Volunteers
- 345 people
- Sponsor
- Grifols Therapeutics LLC
Gut Health
Effectiveness of a Butyrate Formulation and Butyrate + Polyphenol Formulation on Gut Health, Permeability and Associated Symptoms
The purpose of this study is the assess the effectiveness and safety of a Butyrate formulation and a Butyrate + Polyphenol formulation on gut health, permeability and associated symptoms
- Trial name
- NCT06419231
- Testing
- Butyrate Formulation, Butyrate + Polyphenol Formulation
- Where
- United States
- Volunteers
- 143 people, healthy volunteers welcome
- Sponsor
- Supplement Formulators, Inc.
Hereditary Cystatin C Amyloid Angiopathy (HCCAA), Hemorrhage Brain
Safety, Tolerability and Efficacy of NPI-001 in Patients With Hereditary Cystatin C Amyloid Angiopathy (HCCAA)
The study aims to measure safety, tolerability and biomarker-based efficacy of NPI-001 (AT-001) in Subjects with Hereditary Cystatin C Amyloid Angiopathy (HCCAA).
- Conditions
- Hereditary Cystatin C Amyloid Angiopathy (HCCAA), Hemorrhage Brain, Hemorrhage Cerebral
- Trial name
- HCCAA (NCT07716865)
- Testing
- NACA
- Where
- Iceland
- Volunteers
- 15 people
- Sponsor
- Arctic Therapeutics
Dermatitis, Atopic, Eczema
Skin Effects of a Topical Amino Acid Moisturizing Cream and Desonide in Atopic Dermatitis
The purpose of this study is to compare the effects of an amino acid moisturizing cream and desonide cream in reducing skin symptoms associated with AD/eczema in subjects with mild to moderate atopic dermatitis/eczema.
- Trial name
- NCT02286700
- Testing
- Desonide Cream, Amino Acid Moisturizing Cream
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- NeoStrata Company, Inc.
Xeroderma Pigmentosum
A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum C and V
The CUV152 study will evaluate the safety of afamelanotide in XP-C and XP-V patients, as well as the drug's ability to assist reparative processes following ultraviolet (UV) provoked DNA damage of the skin.
- Trial name
- NCT05370235
- Testing
- Afamelanotide
- Where
- 2 sites in Belgium, Spain
- Volunteers
- 6 people
- Sponsor
- Clinuvel Europe Limited
Gout
Validation Study of Physical Measurement of Tophi
The purpose of this study is to determine the inter- and intra-rater reproducibility of direct physical measurement of tophus nodules in subjects with gout.
- Trial name
- NCT00175006
- Testing
- Measurement of Tophi to validate procedure
- Volunteers
- 13 people
- Sponsor
- Takeda
Spinocerebellar Ataxias, Spinocerebellar Ataxia Type 1
Troriluzole in Adult Participants With Spinocerebellar Ataxia
The purpose of this study is to compare the efficacy of Troriluzole (200 mg once daily) versus placebo after 48 weeks of treatment in subjects with spinocerebellar ataxia (SCA).
- Conditions
- Spinocerebellar Ataxias, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3
- Trial name
- NCT03701399
- Testing
- troriluzole
- Where
- 23 sites in United States, China
- Volunteers
- 299 people
- Sponsor
- Biohaven Pharmaceuticals, Inc.
Familial Adenomatous Polyposis
A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP)
The purpose of this phase III study is to evaluate the safety and efficacy of the combination of eflornithine and sulindac compared to single agent sulindac or eflornithine in reducing the number of polyps in patients with…
- Trial name
- NCT01245816
- Testing
- Eflornithine plus Sulindac
- Sponsor
- Cancer Prevention Pharmaceuticals, Inc.
Usher Syndromes
Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome
This study will examine the safety and efficacy of NPI-001 Tablets as compared to placebo for 24 months in subjects with vision loss due to RP associated with Usher syndrome.
- Trial name
- SLO RP (NCT04355689)
- Testing
- NPI-001
- Where
- 4 sites in Australia
- Volunteers
- 49 people
- Sponsor
- Nacuity Pharmaceuticals, Inc.
Arrhythmogenic Cardiomyopathy, PKP2-ACM
A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM
An observational study to assess real-world patient characteristics and clinical course of disease in participants with PKP2-ACM.
- Conditions
- Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
- Trial name
- SNAPSHOT- PKP2 (NCT06976606)
- Where
- 6 sites in United States
- Volunteers
- 40 people
- Sponsor
- Lexeo Therapeutics
Huntington Disease
An Exploratory Clinical Trial in Early Stage Huntington's Disease Patients With SEN0014196
The primary objective of this study is to provide biological samples from patients with Huntington's disease to allow characterisation of the pharmacological mechanism of action of SEN0014196.
- Trial name
- PADDINGTON (NCT01485952)
- Testing
- SEN0014196 (Low Dose), SEN0014196 (High Dose)
- Where
- Germany
- Volunteers
- 55 people
- Sponsor
- Siena Biotech S.p.A.
Charcot-Marie-Tooth Disease
A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
The COMMIT Study will assess the safety and effectiveness of FLX-787 in men and women with Charcot-Marie-Tooth disease (CMT) experiencing muscle cramps.
- Trial name
- COMMIT (NCT03254199)
- Testing
- FLX-787-ODT (orally disintegrating tablet)
- Where
- 20 sites in United States
- Volunteers
- 27 people
- Sponsor
- Flex Pharma, Inc.
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENEREXT Study
This is an open-label, multi-centre study in subjects with a genetically confirmed mitochondrial deoxyribonucleic acid (DNA) transfer ribonucleic acid (tRNA)Leu(UUR) m.3243A>G mutation who completed study KH176-202.
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke Like Episodes (MELAS)
- Trial name
- NCT04604548
- Testing
- Oral administration of 100 mg KH176 twice daily
- Where
- 4 sites in Denmark, Germany and 2 more
- Volunteers
- 11 people
- Sponsor
- Khondrion BV
Alpha1-proteinase Inhibitor Deficiency, Emphysema
Zemaira in Subjects With Emphysema Due to Alpha1-Proteinase Inhibitor Deficiency
This is a randomized, placebo-controlled, double-blind, multicenter phase III/IV study to compare the efficacy and safety of Zemaira® with placebo in subjects with emphysema due to alpha1-proteinase inhibitor deficiency.
- Trial name
- NCT00261833
- Testing
- Alpha1-proteinase inhibitor
- Where
- 28 sites in United States, Australia and 11 more
- Volunteers
- 180 people
- Sponsor
- CSL Behring
Epilepsy, Epilepsy, Generalized
Clobazam in Patients With Lennox-Gastaut Syndrome
The purpose of this study is to evaluate the safety and efficacy of clobazam as adjunctive therapy in the treatment of seizures which lead to drop attacks (drop seizures) in patients 2 to 60 years of age with Lennox-Gastaut…
- Conditions
- Epilepsy, Epilepsy, Generalized, Seizures
- Trial name
- NCT00518713
- Testing
- Clobazam Low Dose, Clobazam Medium Dose, Clobazam High Dose
- Where
- 53 sites in United States, Australia and 3 more
- Volunteers
- 238 people
- Sponsor
- Lundbeck LLC
Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies
Single Ascending Dose Study in Participants With LCA10
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound…
- Conditions
- Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies, Eye Diseases, Hereditary, Retinal Disease
- Trial name
- NCT03872479
- Testing
- EDIT-101
- Where
- 5 sites in United States
- Volunteers
- 34 people
- Sponsor
- Editas Medicine, Inc.
Pruritus, Prurigo Nodularis
Study of the Long Term Safety of Serlopitant for the Treatment of Pruritus (Itch)
Study of the long term safety of serlopitant for the treatment of pruritus in adults.
- Conditions
- Pruritus, Prurigo Nodularis, Atopic Dermatitis, Psoriasis
- Trial name
- NCT03540160
- Testing
- 5 mg Serlopitant Tablets
- Where
- 85 sites in United States, Austria and 2 more
- Volunteers
- 558 people
- Sponsor
- Vyne Therapeutics Inc.
Niemann-Pick Disease, Type C
Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease
Due to different study designs, the sponsor separated Part C into this separate registration (NCT04958642), leaving Parts A/B in NCT02534844.
- Trial name
- NCT04958642
- Testing
- Adrabetadex
- Where
- 30 sites in United States, Australia and 7 more
- Volunteers
- 66 people
- Sponsor
- Mandos LLC