Clinical trials: Inherited Genetic Conditions
Myotonic Dystrophy Type 1 (DM1)
A Phase 1/2 Study of VX-670 in Adult Participants With Myotonic Dystrophy 1 (DM1)
The purpose of the study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-670 at different single and multiple doses in participants with DM1.
- Trial name
- Galileo (NCT06185764)
- Testing
- VX-670
- Where
- 26 sites in United States, Australia and 8 more
- Volunteers
- 47 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Atopic Dermatitis, Pruritus
Efficacy and Tolerability Study of Device, RD047-26 for the Treatment of Mild to Moderate Atopic Dermatitis in Adults
The purpose of this study is to find out if investigational device, RD047-26, is safe and useful for the treatment of mild to moderate atopic dermatitis.
- Trial name
- NCT01232985
- Testing
- RD047-26
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Oculus Innovative Sciences, Inc.
Tuberous Sclerosis Complex
Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment
The purpose of this study is to evaluate the long-term safety in patients with TSC and refractory seizures who are currently receiving everolimus treatment in the Novartis-sponsored EXIST-3 study and who are determined to be…
- Trial name
- NCT02962414
- Testing
- everolimus
- Where
- 67 sites in United States, Australia and 16 more
- Volunteers
- 206 people
- Sponsor
- Novartis Pharmaceuticals
Amyloid Plaque, Beta-Amyloid
A Study to Assess the Effects of ACI-24.060 in Alzheimer's Disease and in Down Syndrome (ABATE Study)
The purpose of this study is to assess the safety, tolerability, immunogenicity and pharmacodynamic effects of ACI-24.060 in subjects with prodromal Alzheimer's disease and in non-demented adults with Down syndrome.
- Conditions
- Amyloid Plaque, Beta-Amyloid, DSAD, Prodromal Alzheimer's Disease
- Trial name
- NCT05462106
- Testing
- ACI-24.060 at Dose A in Study Part 1a, ACI-24.060 at Dose B in Study Part 1a, ACI-24.060 at Dose C in Study Part 1a
- Where
- 26 sites in United States, Spain and 1 more
- Volunteers
- 304 people
- Sponsor
- AC Immune SA
Leber Congenital Amaurosis 10, Blindness
A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
The purpose of this double-masked, randomized, controlled, multiple-dose study is to evaluate the efficacy, safety, tolerability and systemic exposure of sepofarsen (QR-110) administered via intravitreal injection in subjects…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- ILLUMINATE (NCT03913143)
- Testing
- sepofarsen
- Where
- 14 sites in United States, Belgium and 7 more
- Volunteers
- 36 people
- Sponsor
- ProQR Therapeutics
Pregnancy Related, Atopic Dermatitis
An Observational Retrospective Cohort Study Being Conducted in Women With Atopic Dermatitis Exposed to Ruxolitinib Cream Versus Topical Corticosteroids During Pregnancy: A US Claims Database Analysis
This study is to assess infant outcomes of women with AD who were exposed to ruxolitinib cream during pregnancy compared with a control cohort of women with AD who were exposed to a topical corticosteroid (TCS) during pregnancy.
- Trial name
- NCT06627335
- Testing
- Ruxolitinib Cream, TCS
- Where
- United States
- Volunteers
- 5,621 people
- Sponsor
- Incyte Corporation
Spinocerebellar Degeneration
C-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration
The aim of this study is to evaluate the efficacy and safety of C-Trelin OD Tablet 5mg(Taltirelin Hydrate) in Multicenter, randomized, double-blind, placebo-controlled clinical trial in patients with ataxia induced by…
- Trial name
- NCT04107740
- Testing
- C-Trelin OD Tab(5mg Taltirelin Hydrate)
- Where
- 8 sites in South Korea
- Volunteers
- 160 people
- Sponsor
- HLB Pharmaceutical Co., Ltd.
Chronic Obstructive Pulmonary Disease (COPD), Alpha1-Antitrypsin Deficiency
A Study of RYMPHYSIA for Alpha1-Proteinase Inhibitor (A1PI) Therapy in Adults With A1PI Deficiency and Chronic Obstructive Pulmonary Disease (COPD)-Emphysema
The main purpose of this study is to evaluate the efficacy of RYMPHYSIA [Alpha1-Proteinase Inhibitor (Human)] compared to another available alpha-1 proteinase Inhibitor (A1PI) in adults with A1PI deficiency and COPD-emphysema.
- Trial name
- NCT05466747
- Testing
- RYMPHYSIA, Another Available A1PI
- Sponsor
- Takeda
Huntington's Chorea
Efficacy and Safety of SOM3355 in Huntington's Disease Chorea
Phase IIa study to evaluate the efficacy and safety of SOM3355 in chorea movements associated with Huntington's disease
- Trial name
- NCT03575676
- Testing
- SOM3355 100mg BID, SOM3355 200mg BID
- Where
- 4 sites in Spain
- Volunteers
- 32 people
- Sponsor
- SOM Innovation Biotech SA
Movement Disorders, Essential Tremor
ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders
The proposed study is to evaluate the effectiveness of ExAblate Transcranial MRgFUS as a tool for creating a unilateral lesion in the Vim thalamus or the globus pallidus (GPi) in patients with treatment-refractory symptoms of…
- Conditions
- Movement Disorders, Essential Tremor, Holmes Tremor, Parkinson's Disease
- Trial name
- NCT02252380
- Testing
- Transcranial ExAblate System
- Where
- 2 sites in Canada
- Volunteers
- 10 people
- Sponsor
- InSightec
Atopic Dermatitis
Topical Ruxolitinib Evaluation in Atopic Dermatitis Study 1 (TRuE AD1) - An Efficacy and Safety Study of Ruxolitinib Cream in Adolescents and Adults With Atopic Dermatitis
The purpose of this study is to assess the efficacy and safety of twice daily ruxolitinib cream in adolescents and adults with Atopic Dermatitis (AD).
- Trial name
- NCT03745638
- Testing
- Ruxolitinib Cream, Vehicle Cream
- Where
- 79 sites in United States, Canada and 5 more
- Volunteers
- 631 people
- Sponsor
- Incyte Corporation
Renal Impairment
Effect of Febuxostat on Renal Function in Patients With Gout and Moderate to Severe Renal Impairment
The purpose of this study is to determine the effect of febuxostat, once daily (QD) or twice daily (BID), on renal function in gout patients with elevated serum urate levels and who have moderate to severe renal impairment.
- Trial name
- NCT01082640
- Testing
- Febuxostat
- Where
- 58 sites in United States
- Volunteers
- 96 people
- Sponsor
- Takeda
Primary Immunodeficiency Diseases (PID), Immune Thrombocytopenic Purpura (ITP)
Safety and Efficacy Study of a 10% Intravenous Immune Globulin Solution in Subjects With Primary Immunodeficiency Disorders
The purpose of this study is to assess the safety and efficacy of Immune Globulin Intravenous (Human), 10% (IGIV 10%) in subjects with primary immunodeficiency disorders.
- Conditions
- Primary Immunodeficiency Diseases (PID), Immune Thrombocytopenic Purpura (ITP), Kawasaki Syndrome
- Trial name
- NCT00157079
- Testing
- Immune Globulin Intravenous (Human), 10%
- Where
- 11 sites in United States
- Volunteers
- 61 people
- Sponsor
- Baxalta now part of Shire
Alpha 1-Antitrypsin Deficiency
Safety Study of Alfalastin (Human Alpha-1 Antitrypsin) Administered at Home
The purpose of this study is to collect safety data on ALFALASTIN® infusions performed at home or in out-of hospital locations.
- Trial name
- NCT01676688
- Volunteers
- 17 people
- Sponsor
- Laboratoire français de Fractionnement et de Biotechnologies
Gout, Hyperuricemia
Relative Bioavailability Study to Assess an LC350189 Tablet Compared to an LC350189 Capsule in Healthy Adults
This is an open-label, randomized, crossover, single dose study. Two single doses of LC350189(tablet or capsule formulations) will be administered with a washout period of at least 4-day between the doses to investigate the…
- Trial name
- NCT04886050
- Testing
- LC350189 Tablet, LC350189 Capsule
- Where
- United States
- Volunteers
- 23 people, healthy volunteers welcome
- Sponsor
- LG Chem
Down Syndrome, Edwards Syndrome
Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02787486
- Testing
- Blood sampling for Laboratory Developed Test (LDT) analysis
- Where
- 8 sites in United States
- Volunteers
- 760 people
- Sponsor
- Progenity, Inc.
Atopic Dermatitis
Efficacy and Safety Study of MSRD-100 in Subjects With Atopic Dermatitis >=3 Months of Age and Older
This is a double-blind, randomized, vehicle-controlled, multi-center, parallel group Phase 3 study of MSRD-100 in the treatment of atopic dermatitis in subjects aged 3 months and up.
- Trial name
- MSRD-100 (NCT02677610)
- Testing
- MSRD-100, Vehicle
- Sponsor
- Merz North America, Inc.
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older Homozygous for the F508del-CFTR Mutation
The purpose of this study was to evaluate the safety and efficacy of ivacaftor in participants with cystic fibrosis (CF) who were aged 12 years or older and were homozygous for the F508del-CF transmembrane conductance regulator…
- Trial name
- DISCOVER (NCT00953706)
- Testing
- Ivacaftor
- Where
- 34 sites in United States
- Volunteers
- 140 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Rett Syndrome
Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
- Trial name
- ASPIRE (NCT07480564)
- Testing
- TSHA-102
- Where
- 3 sites in United States
- Volunteers
- 4 people
- Sponsor
- Taysha Gene Therapies, Inc.
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