Clinical trials: Genetic Conditions
Gout Flares
A Proof-of-Concept Study of AC-201 to Prevent Gout Flares
Initiation of ULT for gout increases the occurrence of acute gouty arthritis flares due to mobilization of urate from tissue deposits. IL-1β plays a key role in mediating the inflammatory response in gouty arthritis.
- Trial name
- NCT01712204
- Testing
- AC-201, Febuxostat
- Where
- Taiwan
- Volunteers
- 82 people
- Sponsor
- TWi Biotechnology, Inc.
Obesity Associated With Defects in Leptin-melanocortin Pathway
Open-Label Extension Study of Setmelanotide
This is an open-label extension study designed to evaluate the long-term safety and tolerability of continued setmelanotide treatment in male and female patients ≥2 years of age who have completed or transitioned from a previous…
- Trial name
- NCT06596135
- Testing
- Setmelanotide
- Where
- 13 sites in United States
- Volunteers
- 28 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Turner Syndrome, Renal Insufficiency, Chronic
Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq
The main purpose of this study is to establish an optimal monitoring regimen in NutropinAq treated children, using newly developed capillary blood spot IGF-1 measurement technology.
- Conditions
- Turner Syndrome, Renal Insufficiency, Chronic, Pituitary Diseases, Dwarfism
- Trial name
- OPTIMA (NCT00234533)
- Testing
- Somatropin (rDNA origin)
- Where
- 45 sites in Belgium, Czechia and 12 more
- Volunteers
- 251 people
- Sponsor
- Ipsen
Retinitis Pigmentosa, Retinitis
Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study
This study will be conducted following Good Clinical Practice (GCP) and International Conference on Harmonization (ICH) guidelines.
- Conditions
- Retinitis Pigmentosa, Retinitis, Retinal Diseases, Eye Diseases
- Trial name
- REMAIN (NCT06162585)
- Testing
- Gene Therapy product-MCO-010
- Where
- 6 sites in United States, Puerto Rico
- Volunteers
- 18 people
- Sponsor
- Nanoscope Therapeutics Inc.
Antitrypsin Deficiency Liver Disease
A Study of an Investigational Drug, ALN-AAT, in Healthy Adult Subjects and Patients With ZZ Type Alpha-1 Antitrypsin Deficiency Liver Disease
The purpose of this study is to evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Subcutaneously Administered ALN-AAT in Healthy Adult Subjects and Patients with ZZ Type Alpha-1 Antitrypsin Deficiency…
- Trial name
- NCT02503683
- Testing
- ALN-AAT, Sterile Normal Saline (0.9% NaCl)
- Where
- United Kingdom
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Alnylam Pharmaceuticals
AMN, AMN Gene Mutation
Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
The course of AMN-related disabilities over time is poorly or incompletely understood due to a limited number of patients and lack of treatments.
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- CYGNET (NCT05008874)
- Testing
- Natural History Observation
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 65 people
- Sponsor
- SwanBio Therapeutics, Inc.
Cystic Fibrosis
A Phase 1/2 Trial of SP-101 for the Treatment of Cystic Fibrosis (CF)
This is a Phase 1/2 multicenter, open-label, single dose trial of SP-101 investigational gene therapy in adults with CF who are ineligible for or intolerant to CFTR modulator therapy.
- Trial name
- SAAVe (NCT06526923)
- Testing
- SP-101 and doxorubicin Cohort 1, SP-101 and doxorubicin Cohort 2
- Where
- 4 sites in United States
- Volunteers
- 15 people
- Sponsor
- Spirovant Sciences, Inc.
Gout
A Study to Investigate the Clinical Effect and the Safety of PRX-115 Infused Intravenously at Different Dosing Regimens, With and Without Methotrexate, Versus Placebo in Adults Gout Patients (RELEASE)
This is a multicenter, randomized, double-blind, placebo-controlled phase II study assessing the efficacy, safety, and dosing regimen selection of multiple IV infusions of PRX-115 over 24 weeks, with or without MTX, versus the…
- Trial name
- RELEASE (NCT07280156)
- Testing
- PRX-115, Methotrexate (MTX)
- Where
- 35 sites in United States, Georgia and 1 more
- Volunteers
- 150 people
- Sponsor
- Protalix
Prostate Cancer
An Open Label Prostate Cancer Study in Japanese Patients
The primary aim of study is to gain an initial assessment of safety and tolerability of AZD3514 in Japanese patients together with assessing Pharmacokinetics (PK) and gaining a preliminary assessment of anti-tumour action.
- Trial name
- NCT01351688
- Testing
- AZD3514
- Where
- 2 sites in Japan
- Volunteers
- 13 people
- Sponsor
- AstraZeneca
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes
A Study to Learn How the Study Drug Elinzanetant (BAY 3427080) Affects the Way the Drug Dabigatran Moves Into, Through and Out of the Body in Healthy Male and Female Participants
Researchers are looking for a better way to treat men and women with vasomotor symptoms, a condition of having hot flashes caused by hormonal changes.
- Conditions
- Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes, Healthy Volunteers
- Trial name
- NCT05471817
- Testing
- Elinzanetant (BAY3427080), Dabigatran etexilate
- Where
- Germany
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Bayer
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
Cytochrome P450 CYP2D6 Enzyme Deficiency, Poor Metabolizer Due to Cytochrome P450 CYP2D6 Variant
Drug & Gene Interaction Risk Analysis With & Without Genetic Testing Among Patients Undergoing MTM
This randomized controlled trial will evaluate whether the use of pharmacogenetic testing through a Medication Therapy Management (MTM) program has a beneficial impact on drug therapy problems.
- Conditions
- Cytochrome P450 CYP2D6 Enzyme Deficiency, Poor Metabolizer Due to Cytochrome P450 CYP2D6 Variant, Ultrarapid Metabolizer Due to Cytochrome P450 CYP2D6 Variant, Extensive Metabolizer Due to Cytochrome P450 CYP2D6 Variant
- Trial name
- NCT02428660
- Testing
- Pharmacogenetic testing, Software-based drug & gene interaction risk analysis, MTM
- Where
- United States
- Volunteers
- 341 people
- Sponsor
- Genelex Corporation
Alpha 1-Antitrypsin Deficiency
Study of DCR-A1AT in Healthy Adult Volunteers
This is a research study to test an experimental study drug (belcesiran, also known as DCR-A1AT). This drug is being tested to see if it helps people with a rare condition known as Alpha-1 Antitrypsin Deficiency, or A1ATD.
- Trial name
- NCT04174118
- Testing
- belcesiran
- Where
- 2 sites in New Zealand, Sweden
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
STXBP1 Encephalopathy with Epilepsy
Natural History Study in Pediatric Patients with STXBP1 Encephalopathy with Epilepsy
This is a prospective, non-interventional, longitudinal study designed to characterize the natural history of STXBP1 related encephalopathy with epilepsy, in participants ≤ <5 years of age.
- Trial name
- NCT05462054
- Sponsor
- Capsida Biotherapeutics, Inc.
Hunter Syndrome
An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment
This extension study of HGT-HIT-045 is designed to collect long-term safety data in pediatric participants with Hunter syndrome and cognitive impairment who are receiving intrathecal (IT) idursulfase-IT and intravenous (IV)…
- Trial name
- NCT01506141
- Testing
- Idursulfase-IT, Elaprase
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- Takeda
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.
Atopic Dermatitis (Eczema)
The Effects of a Botanical Moisturizer and an Unscented Soap on Eczema and Itch
The purpose of this study is to examine the effects of a botanical moisturizer and an unscented soap on eczema severity, itch, mood, and various skin measures (such as skin hydration) in those with mild to moderate eczema.
- Trial name
- NCT06804070
- Testing
- Botanical Moisturizer + Unscented Soap
- Where
- Poland
- Volunteers
- 34 people
- Sponsor
- Codex Labs Corporation
Treatment-resistant Pruritus Associated With Atopic Dermatitis
Proof of Concept of VLY-686 in Subjects With Treatment-Resistant Pruritus Associated With Atopic Dermatitis
This is randomized, double-blind, placebo-controlled study to test whether VLY-686 can reduce chronic pruritus in subjects with treatment-resistant pruritus associated with atopic dermatitis in comparison with placebo.
- Trial name
- NCT02004041
- Testing
- VLY-686
- Where
- 5 sites in Germany
- Volunteers
- 69 people
- Sponsor
- Vanda Pharmaceuticals
Gestational Diabetes, Pregnancy Complications
OneinSeven Gestational Diabetes Genetic and Socioeconomic Risk Study
The objective of the Gestational Diabetes Genetic Socioeconomic Risk Study is to generate genome wide association study data (GWAS) to calculate polygenic risk scores (PRS) for the development of gestational diabetes in pregnant…
- Conditions
- Gestational Diabetes, Pregnancy Complications, Pregnancy Related, Genetic Predisposition
- Trial name
- NCT04789473
- Testing
- Polygenic Risk Score Generation
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Prenome
Spinal Muscular Atrophy
Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA)
To evaluate the safety, tolerability and efficacy of intravenous administration of OAV101 (AVXS-101) in patients with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene weighing ≥…
- Trial name
- SMART (NCT04851873)
- Testing
- OAV101
- Where
- 13 sites in United States, Australia and 7 more
- Volunteers
- 24 people
- Sponsor
- Novartis Pharmaceuticals