Clinical trials: Inherited Genetic Conditions
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
Alpha-1 Antitrypsin Deficiency
A Phase 1b/2a, Open-label Single Ascending Doses and Multiple Ascending Doses Study in Participants With Pi*ZZ AATD
The purpose of this open-label study is to assess the safety, tolerability, pharmacodynamics, and pharmacokinetics of WVE-006 in participants with alpha-1 antitrypsin deficiency (AATD) following Period 1 single ascending dose…
- Trial name
- NCT06405633
- Testing
- WVE-006
- Where
- 9 sites in Australia, Canada and 4 more
- Volunteers
- 48 people
- Sponsor
- Wave Life Sciences USA, Inc.
Fed
Galantamine Bioequivalence Study of Dr. Reddy's Under Fed Condition
Galantamine Hydrobromide Tablets, Bioequivalence study of Dr. Reddy's under Fed condition.
- Trial name
- NCT01372306
- Testing
- Reminyl
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
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
Entrapment Neuropathy
Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device
A proof of concept study to evaluate the feasibility of safe and effective treatment through optimization of the Cryo-Touch III Device for temporary relief of pain.
- Trial name
- NCT01753778
- Testing
- Cryo-Touch III Device
- Where
- 2 sites in United States
- Volunteers
- 7 people
- Sponsor
- Pacira Pharmaceuticals, Inc
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.
Alpha 1-Antitrypsin Deficiency
Study of Fazirsiran (TAK-999, ARO-AAT) in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATD)
The purpose of this study is to evaluate the the safety and efficacy of the investigational product, fazirsiran (TAK-999, ARO-AAT), administered subcutaneously to patients with alpha-1 antitrypsin deficiency associated liver…
- Trial name
- NCT03946449
- Testing
- ARO-AAT
- Where
- 4 sites in Austria, Germany and 1 more
- Volunteers
- 16 people
- Sponsor
- Arrowhead Pharmaceuticals
Fragile-X Syndrome
EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to evaluate characteristics, management and patient and caregiver-related outcomes the quality of life of Families and patients with FXS and…
- Trial name
- EXPLAIN (NCT01711606)
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- Novartis Pharmaceuticals
Metastatic Castration Resistant Prostate Cancer
A Study to Learn About the Investigational Drug Rinzimetostat (ORIC-944) in Patients With mCRPC Who Were Previously Treated With Abiraterone Acetate (Himalayas-1)
Himalayas-1 is a randomized, open-label, global, multicenter phase 3 study evaluating whether the combination of rinzimetostat with darolutamide is more effective compared to physician's choice of control; ARPI (darolutamide or…
- Trial name
- Himalayas-1 (NCT07723248)
- Testing
- Rinzimetostat, Darolutamide, Enzalutamide
- Where
- 12 sites in United States, Puerto Rico
- Volunteers
- 600 people
- Sponsor
- ORIC Pharmaceuticals
Atopic Dermatitis
A Study to Assess the Safety and Efficacy of ZPL389 With TCS/TCI in Atopic Dermatitis Patients
This extension study (CZPL389A2203E1) was designed as a 2-year (100 weeks) extension to the core study (CZPL389A2203/ NCT03517566) which is disclosed separately.
- Trial name
- ZESTExt (NCT03948334)
- Testing
- ZPL389 30mg, ZPL389 50mg, TCS and/or TCI
- Where
- 48 sites in United States, Belgium and 11 more
- Volunteers
- 123 people
- Sponsor
- Novartis Pharmaceuticals
Metastatic Breast Cancer
A Phase III Study of BKM120 With Fulvestrant in Patients With HR+,HER2-, AI Treated, Locally Advanced or Metastatic Breast Cancer Who Progressed on or After mTORi
This study was a multicenter, randomized, double-blind, placebo-controlled Phase III study to determine the efficacy and safety of treatment with Buparlisib plus Fulvestrant vs.
- Trial name
- BELLE-3 (NCT01633060)
- Testing
- Fulvestrant, BKM120
- Where
- 197 sites in United States, Argentina and 20 more
- Volunteers
- 432 people
- Sponsor
- Novartis Pharmaceuticals
Rett Syndrome
A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome
This study will evaluate the efficacy and safety profiles of the investigational gene therapy, NGN-401, in females with typical Rett syndrome.
- Trial name
- NCT05898620
- Testing
- NGN-401
- Where
- 16 sites in United States, Australia and 1 more
- Volunteers
- 33 people
- Sponsor
- Neurogene Inc.
Adenocarcinoma, Adenocystic Carcinoma
The Registry of Oncology Outcomes Associated With Testing and Treatment
This study is to collect and validate regulatory-grade real-world data (RWD) in oncology using the novel, Master Observational Trial construct. This data can be then used in real-world evidence (RWE) generation.
- Conditions
- Adenocarcinoma, Adenocystic Carcinoma, Anal Cancer, Appendix Cancer
- Trial name
- ROOT (NCT04028479)
- Testing
- Biomarker Testing (L), Systemic Treatment (T), Patient Reported Outcomes (P)
- Where
- 2 sites in United States
- Volunteers
- 167 people
- Sponsor
- Taproot Health
Mucopolysaccharidosis Type 7
An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
UX003-CL201 is an open-label Phase 1/2 study to assess the safety, efficacy, and dose of UX003 in MPS 7 patients via intravenous (IV) administration every other week (QOW) for 36 weeks with up to an additional 36 weeks from the…
- Trial name
- NCT01856218
- Testing
- UX003
- Where
- United Kingdom
- Volunteers
- 3 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
glp1 Agonist, Gene Expression
Ellacor® Micro-Coring Technology® in Fitzpatrick Skin Types I-VI, Including Patients Receiving Glucagon-Like Peptide-1 Receptor Agonists
The main purpose of the study is to collect information about how the device functions in a variety of treatment areas and skin types and to find out what changes, if any, occur in the skin treated with the study device compared…
- Conditions
- glp1 Agonist, Gene Expression, Skin Laxity
- Trial name
- NCT07224880
- Testing
- ellacor
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Cytrellis Biosystems, Inc.
Generalized Lipodystrophy
A Study of the Safety of Mibavademab in Pediatric and Adult Participants Switching From Metreleptin to Mibavademab for the Treatment of Generalized Lipodystrophy (GLD)
This study is researching an experimental drug called mibavademab. The study is focused on participants with GLD who have been on metreleptin treatment for at least 6 months with no change in dose for the last 3 months.
- Trial name
- NCT06548100
- Testing
- mibavademab
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Regeneron Pharmaceuticals
Spinal Muscular Atrophy, SMA
A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy
This double-blind, Phase 2, multiple-dose study will be conducted to evaluate the PK/PD, efficacy, safety, and tolerability of apitegromab in subjects <2 years old with 5q autosomal recessive SMA who have delayed motor milestones…
- Conditions
- Spinal Muscular Atrophy, SMA, Spinal Muscular Atrophy Type 2, Spinal Muscular Atrophy Type 3
- Trial name
- OPAL (NCT07047144)
- Testing
- Apitegromab, Nusinersen, Risdiplam
- Where
- 23 sites in United States, Belgium and 5 more
- Volunteers
- 52 people
- Sponsor
- Scholar Rock, Inc.
Incurable Metastatic Colorectal Carcinoma, Incurable Progressive, Recurrent or Metastatic Squamous Cell Carcinoma of the Head and Neck
Phase 1 and 2 Study of PX-866 and Cetuximab
The purpose of this Phase 1/2 open-label study is to determine the safety and efficacy of a cetuximab and PX-866 combination treatment.
- Trial name
- NCT01252628
- Testing
- PX-866 (SCCHN), Cetuximab (SCCHN), PX-866 (CRC)
- Where
- 40 sites in United States, Canada
- Volunteers
- 178 people
- Sponsor
- Cascadian Therapeutics Inc.
Haemophilia A
Turoctocog Alfa in Haemophilic Italian Patients: Protection and Engagement in Recreational Activities
This is a study on Italian patients with haemophilia A in prophylaxis treatment with Turoctocog alfa under routine clinical conditions.
- Trial name
- THIRd (NCT04584892)
- Testing
- Turoctocog alfa
- Where
- 10 sites in Italy
- Volunteers
- 18 people
- Sponsor
- Novo Nordisk A/S
Familial Adenomatous Polyposis Coli, FAP
Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA
This purpose of this study is to investigate whether the number and size of rectal polyps can be reduced in patients with Familial Adenomatous Polyposis (FAP) by using a highly-purified form of a naturally occurring substance…
- Trial name
- NCT00510692
- Testing
- Eicosapentanoic Acid (EPA), Endoscopy, Biopsies taken
- Where
- United Kingdom
- Volunteers
- 58 people
- Sponsor
- S.L.A. Pharma AG