Clinical trials: Genetic Diseases
Thyroid Eye Disease
An Open-Label Trial of Veligrotug in Participants With Thyroid Eye Disease Who Previously Responded to Teprotumumab
This is a clinical trial to evaluate the safety and efficacy of veligrotug (LUMVOA™) in participants with moderate to severe TED who previously received and responded to an initial course of teprotumumab treatment but…
- Trial name
- NCT07832136
- Testing
- veligrotrug (LUMVOA™)
- Where
- 8 sites in United States
- Volunteers
- 30 people
- Sponsor
- Viridian Therapeutics, Inc.
Genetic Disorder, Achondroplasia
A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin
This study is conducted in Japan. The aim of the study is to evaluate the efficacy of somatropin (Norditropin®) on adult height (cm) in patients with achondroplasia / hypochondroplasia enrolled in the GH-1941 study (NCT01516229).
- Trial name
- NCT01435629
- Testing
- somatropin
- Where
- Japan
- Volunteers
- 81 people
- Sponsor
- Novo Nordisk A/S
Hemophilia A
A Study of Recombinant AAV2/6 Human Factor 8 Gene Therapy SB-525 (PF-07055480) in Subjects With Severe Hemophilia A
The purpose of the study is to evaluate the safety, tolerability and time-course profile of FVIII activity after dosing with SB-525 (PF-07055480)
- Trial name
- NCT03061201
- Testing
- SB-525 (PF-07055480)
- Where
- 22 sites in United States
- Volunteers
- 13 people
- Sponsor
- Pfizer
To Determine Bioequivalence Under Fed Conditions
Bioavailability Study of (Buspar) Buspirone HCl Tablets Under Fasting and Fed Conditions
To compare the single-dose bioavailability of Par and Bristol-Myers Squibb Buspirone HCl Tablets
- Trial name
- NCT00652730
- Testing
- Buspirone HCl, Buspar
- Where
- Canada
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Par Pharmaceutical, Inc.
Cystic Fibrosis
A Study Evaluating Safety and Pharmacokinetics of VX-440 in Combination With Tezacaftor/Ivacaftor in Healthy Adult Subjects
This study evaluated the safety and pharmacokinetics of multiple ascending doses of VX-440 in combination with tezacaftor/ivacaftor (TEZ/IVA) (triple combination [TC]) administered for 13 days to healthy male and female subjects
- Trial name
- NCT03486236
- Testing
- VX-440, TEZ, IVA
- Where
- United Kingdom
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Gout
Lesinurad and Febuxostat Combination Extension Study in Gout
This study will assess the serum uric acid lowering effects and safety of lesinurad in combination with febuxostat over a long-term timeframe.
- Trial name
- NCT01808144
- Testing
- lesinurad, febuxostat
- Where
- 72 sites in United States, Australia and 4 more
- Volunteers
- 196 people
- Sponsor
- Ardea Biosciences, Inc.
Hereditary Angioedema (HAE)
Efficacy and Safety of Lanadelumab (SHP643) in Japanese Participants With Hereditary Angioedema (HAE)
The purpose of this phase 3, open-label, multi-center study is to evaluate the safety and efficacy of lanadelumab in Japanese participants with HAE Type I or II.
- Trial name
- NCT04180163
- Testing
- Lanadelumab
- Where
- 12 sites in Japan
- Volunteers
- 12 people
- Sponsor
- Shire
Hemophilia A, Severe
An Open-label Study Evaluating the Efficacy, Safety, Pharmacokinetics, and Immunogenicity of SKP-0141 for the Treatment and Prophylaxis in Severe Hemophilia a Patients
This is a prospective, multicenter, open-label study to assess efficacy, safety, pharmacokinetics (PK), and immunogenicity of human plasma-derived Factor VIII (FVIII) in previously treated patients (PTPs) with severe hemophilia…
- Trial name
- NCT06738901
- Testing
- SKP-0141
- Volunteers
- 55 people
- Sponsor
- SK Plasma Co., Ltd.
Sickle Cell Disease
A Study of IMR-687 in Adult Participants With Sickle Cell Anemia (Homozygous HbSS or Sickle-β0 Thalassemia)
Study of IMR-687 in adult participants with sickle cell anemia (SCA) (homozygous HbSS or sickle-β0 thalassemia).
- Trial name
- NCT03401112
- Testing
- IMR-687
- Where
- 13 sites in United States, United Kingdom
- Volunteers
- 100 people
- Sponsor
- Cardurion Pharmaceuticals, Inc.
Rett Syndrome
A Phase 3 Study of Fenfluramine Hydrochloride in Rett Syndrome
The purpose of this study is to investigate the efficacy of fenfluramine hydrochloride (HCl) versus placebo in study participants with Rett syndrome (RTT).
- Trial name
- NCT07503444
- Testing
- fenfluramine hydrochloride
- Where
- 40 sites in United States, Belgium and 10 more
- Volunteers
- 200 people
- Sponsor
- UCB BIOSCIENCES, Inc.
Mucopolysaccharidosis II
Mucopolysaccharidosis Type II Observational
This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing…
- Trial name
- NCT04591834
- Testing
- Observational
- Where
- 3 sites in United States, Canada
- Sponsor
- REGENXBIO Inc.
Hemophilia A, Hemophilia B
Patient Interview Study to Explore the Impact of Gene Therapy in Hemophilia A & B
The purpose of this study is to learn about experiences of patients with hemophilia A and B after taking gene therapy. The experiences of patients will be studied through online interviews.
- Trial name
- NCT06634836
- Sponsor
- Pfizer
Alpha 1-Antitrypsin Deficiency
Study Comparing Weekly Intravenous Administration of OctaAlpha1 With a Marketed Preparation Glassia® in Subjects With Alpha-1-antitrypsin Deficiency
This randomized trial is being conducted to show non-inferiority of OctaAlpha1 compared to Glassia® in terms of the serum trough levels at steady state.
- Trial name
- NCT03385395
- Testing
- OctaAlpha1, Glassia
- Sponsor
- Octapharma
Hemophilia B
Hemophilia B Gene Therapy With AAV8 Vector
Hemophilia B is a bleeding disease in males due to very low levels of coagulation factor IX (FIX) in the blood. The current treatment is intravenous injection of FIX clotting factor concentrates, in response to bleeding.
- Trial name
- NCT01620801
- Testing
- AAV8-hFIX19
- Where
- 3 sites in United States, Australia
- Volunteers
- 4 people
- Sponsor
- Spark Therapeutics, Inc.
Hemophilia A or B
A Study to Describe Patient REal-world FitusiRan ExpeRience
This is a real-world, mixed-methods observational study conducted among adolescent (ages 12-17 years) and adult participants diagnosed with hemophilia A or B, with or without Factor VIII (FVIII) or Factor IX (FIX) inhibitors, who…
- Trial name
- PREFER (NCT07895381)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Sanofi
Homozygous Familial Hypercholesterolemia
A Safety and Efficacy Study of AEGR-733 to Treat Homozygous Familial Hypercholesterolemia (FH)
The goal of this trial is to study the effects of AEGR-733 on LDL cholesterol, other lipids as well as measures of safety over the long-term.
- Trial name
- NCT00730236
- Testing
- AEGR-733
- Where
- 10 sites in United States, Canada and 2 more
- Volunteers
- 29 people
- Sponsor
- Aegerion Pharmaceuticals, Inc.
Dystrophic Epidermolysis Bullosa
Evaluation of D-Fi for the Treatment of Wounds Due to DEB
The purpose of this study is to determine whether administration of D-Fi in addition to standard of care improves wound healing as compared to standard of care alone (control) in children, adolescents, and adults with Dystrophic…
- Trial name
- NCT06892639
- Testing
- D-Fi
- Where
- 4 sites in United States
- Volunteers
- 32 people
- Sponsor
- Castle Creek Biosciences, LLC.
Phenylketonuria
SNAP: Study Nutrients in Adult PKU
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine…
- Trial name
- SNAP (NCT03858101)
- Where
- 4 sites in Belgium, Denmark and 1 more
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Nutricia Research
Pancreatic Adenocarcinoma, Pancreatic Cancer
ARTEMIS: Study of Patients With Early Stage Pancreatic Cancer Who Have Undergone Genetic Testing
This study includes participants with pancreatic cancer who are undergoing genetic testing at Invitae related to their diagnosis of pancreatic cancer. Our goal in this study is two-fold.
- Conditions
- Pancreatic Adenocarcinoma, Pancreatic Cancer, Resectable Pancreatic Cancer
- Trial name
- ARTEMIS (NCT05380557)
- Testing
- Germline genetic testing
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Invitae Corporation
Neovascular Age-related Macular Degeneration
A Study to Assess the Efficacy and Safety of AKST4290 With Aflibercept in Patients With Newly Diagnosed nAMD
This study will evaluate the efficacy and safety of AKST4290 in combination with aflibercept injections in subjects with newly diagnosed neovascular age-related macular degeneration (nAMD).
- Trial name
- PHTHALO-205 (NCT04331730)
- Testing
- AKST4290, Aflibercept
- Where
- 21 sites in United States, Germany and 2 more
- Volunteers
- 107 people
- Sponsor
- Alkahest, Inc.
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