Clinical trials: Genetic Conditions
Hypertrophic Cardiomyopathy
Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy
The primary objective of this study was to evaluate the effect of eleclazine (GS-6615) on exercise capacity as measured by Peak oxygen uptake (VO2) achieved during cardiopulmonary exercise testing (CPET), in participants with…
- Trial name
- LIBERTY-HCM (NCT02291237)
- Testing
- Eleclazine
- Where
- 46 sites in United States, Australia and 6 more
- Volunteers
- 172 people
- Sponsor
- Gilead Sciences
Prader-Willi Syndrome, Hyperphagia
Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome
This Phase 2b/3 double-blind, placebo-controlled study will evaluate the safety, tolerability, and effects of livoletide on food-related behaviors in patients with Prader-Willi Syndrome (PWS).
- Trial name
- ZEPHYR (NCT03790865)
- Testing
- Livoletide
- Where
- 37 sites in United States, Australia and 6 more
- Volunteers
- 158 people
- Sponsor
- Millendo Therapeutics SAS
Cryopyrin Associated Periodic Syndrome
The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada
This study will assess the safety, tolerability and efficacy of canakinumab treatment in Canadian patient diagnosed with cryopyrin-associated periodic syndrome over a period of 18 months.
- Trial name
- NCT01105507
- Testing
- canakinumab (company code: ACZ885D)
- Where
- 2 sites in Canada
- Volunteers
- 4 people
- Sponsor
- Novartis Pharmaceuticals
Atopic Dermatitis
The Purpose of This Study is to Evaluate the Effects of Ruxolitinib Cream on Adults With Atopic Dermatitis Experiencing Sleep Disturbance.
The purpose of the study is to evaluate the effect of ruxolitinib cream on sleep disturbances with participants with Atopic Dermatitis.
- Trial name
- MORPHEUS (NCT05696392)
- Testing
- ruxolitinib cream
- Where
- 30 sites in United States
- Volunteers
- 47 people
- Sponsor
- Incyte Corporation
NOMID, CINCA Syndrome
Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease
This study will examine whether a medicine called canakinumab is safe and effective for treating patients with neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic, cutaneous…
- Trial name
- NCT00770601
- Testing
- Canakinumab
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Novartis Pharmaceuticals
Retinitis Pigmentosa
Prospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
- Trial name
- PHENOROD2 (NCT04285398)
- Testing
- Ophthalmic examinations, Mobility Test
- Where
- 2 sites in United States, France
- Volunteers
- 82 people
- Sponsor
- SparingVision
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
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.
Androgenic Alopecia
Effect of Pumpkin Seed Oil on Hair Growth in Men With Androgenetic Alopecia
Androgenic alopecia is the most common cause of hair loss in men. Finasteride and minoxidil are available in treatment of androgenetic alopecia, although the former causes decreased libido or ejaculate volume, erectile…
- Trial name
- NCT01852487
- Testing
- 400mg /day during 6 months
- Where
- South Korea
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Dream Plus
Haemophilia A, Haemophilia B
Management of Health-Related QoL Impairment, Including Pain, Depression and Anxiety, in People With Haemophilia A and B
The puropse of this non-interventional register and survey study is to identify the patterns of prescribed pain, anti-depressive and anti-anxiety medication and management of pain, depression and anxiety for people with…
- Trial name
- MIND (NCT03276130)
- Where
- 5 sites in Denmark, Finland and 1 more
- Volunteers
- 2,300 people
- Sponsor
- Swedish Orphan Biovitrum
Leukodystrophy, Globoid Cell
Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease
PBKR03 is a gene therapy for Krabbe Disease (Globoid cell leukodystrophy) intended to deliver a functional copy of the GALC gene to the brain and peripheral tissues.
- Trial name
- GALax-C (NCT04771416)
- Testing
- PBKR03
- Where
- 9 sites in United States, Brazil and 4 more
- Volunteers
- 24 people
- Sponsor
- Gemma Biotherapeutics
Hemophilia B
HOPE-B: Trial of AMT-061 in Severe or Moderately Severe Hemophilia B Patients
This is an open-label, single-dose, multi-center, multinational trial to demonstrate the efficacy of AMT-061 and to further describe its safety profile. The study drug is identified as AAV5-hFIXco-Padua (AMT- 061).
- Trial name
- NCT03569891
- Testing
- AAV5-hFIXco-Padua, Factor IX (FIX)
- Where
- 33 sites in United States, Belgium and 6 more
- Volunteers
- 67 people
- Sponsor
- CSL Behring
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
Alpha1-Antitrypsin Deficiency
A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems
The liver produces a protein called alpha-1 antitrypsin (AAT). AAT is normally released into the bloodstream. In some people, the liver makes an abnormal version of AAT, called Z-AAT.
- Trial name
- ALPHATUDE (NCT06512454)
- Testing
- No Intervention
- Where
- 8 sites in United States, Austria and 4 more
- Volunteers
- 500 people
- Sponsor
- Takeda
Mucopolysaccharidosis II
An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007
This is a multiregional open-label extension (OLE) to assess the safety, tolerability, and efficacy of long-term treatment with tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant intravenous…
- Trial name
- NCT06075537
- Testing
- tividenofusp alfa
- Where
- 30 sites in United States, Argentina and 12 more
- Volunteers
- 99 people
- Sponsor
- Denali Therapeutics Inc.
Fabry Disease
Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients
The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.
- Trial name
- NCT04804566
- Testing
- This is a non-interventional study
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Amicus Therapeutics
Pain
An Exploratory Study to Assess the Effects of JNJ-39439335 on the Relief of Pain Using a Thermal-Grill Experimental Model
This exploratory study will use a thermal-grill experimental model to assess the effects of JNJ-39439335 (50 mg, single oral dose) on the relief of pain.
- Trial name
- NCT01006304
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Johnson & Johnson Pharmaceutical Research & Development, L.L.C.
Atopic Dermatitis
Tolerance and Efficacy of Formulation 609580 20 Versus Formulation 609209 in Children With Atopic Dermatitis
Atopic dermatitis is one of the most frequent skin diseases. The disease is often worst during winter months when the skin is drier. Mild to moderate cases of atopic dermatitis are often controlled by a moisturizer alone.
- Trial name
- NCT00931411
- Testing
- Formulation 609580 20, Formulation 609209 (Lipikar Baume)
- Where
- 5 sites in Canada
- Volunteers
- 73 people
- Sponsor
- Cosmetique Active International
Gout
Clinical Study to Evaluate the Pharmacokinetic Characteristics Between TMX-67 and Feburic® in Healthy Volunteers
This study was designed to compare and evaluate the pharmacokinetic characteristics of febuxostat after single oral administration of TMX-67 (test drug) and Feburic® tablet in healthy adults; and to evaluate safety and tolerance…
- Trial name
- NCT01563432
- Testing
- Feburic®, TMX-67
- Where
- South Korea
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- SK Chemicals Co., Ltd.
Atopic Dermatitis, Other Pruritic Dermatological
Observational Analytical Validation Study of the Replior ScratchSense
Nocturnal scratching is a frequent and meaningful symptom in dermatological conditions such as atopic dermatitis. It may reflect underlying disease activity and can substantially disrupt overall sleep and quality of life.
- Conditions
- Atopic Dermatitis, Other Pruritic Dermatological, Chronic Pruritus of Unknown Origin
- Trial name
- NCT07909967
- Testing
- Scratch and sleep research tracking
- Where
- France
- Volunteers
- 35 people
- Sponsor
- Replior AB