Clinical trials: Genetic Diseases
Familial Hypercholesterolaemia
An Study to Evaluate Rosuvastatin in Children and Adolescents With Familial Hypercholesterolaemia
This study is being carried out to see if the study medication, rosuvastatin, is effective in treating familial hypercholesterolaemia in children and adolescents, and to determine the long term (over 2 years) safety, tolerability…
- Trial name
- NCT01078675
- Testing
- rosuvastatin calcium
- Where
- 15 sites in United States, Belgium and 3 more
- Volunteers
- 315 people
- Sponsor
- AstraZeneca
Hemophilia A
A Study in Children, Teenagers and Adults With Severe Hemophilia A Who Switched From Other Factor VIII Treatments to Adynovate
The main aims of the study are to assess the safety profile of Adynovate as well as how well people respond to the preventive treatment with Adynovate.
- Trial name
- NCT04876365
- Testing
- Non-Interventional
- Where
- Canada
- Volunteers
- 153 people
- Sponsor
- Takeda
Congenital Adrenal Hyperplasia
A Study to Determine Eligibility for CAH-301 (A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH) [NCT04783181])
This pre-screening study is designed to determine potential eligibility of adults with classic CAH due to 21-hydroxylase deficiency (21-OHD) for participation in the CAH-301 [NCT04783181] gene therapy trial with BBP-631.
- Trial name
- NCT05101902
- Testing
- Pre-Screening
- Where
- United States
- Volunteers
- 65 people
- Sponsor
- Adrenas Therapeutics Inc
Cystic Fibrosis
A Study of VX-445 in Healthy Subjects and Subjects With Cystic Fibrosis
This is a first-in-human and proof-of-concept study of VX-445. The study includes 6 parts. Parts A, B, and C were conducted in healthy subjects.
- Trial name
- NCT03227471
- Testing
- IVA, TEZ/IVA, VX-445
- Where
- 38 sites in United States, Australia and 2 more
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Triple Negative Breast Neoplasms
Safety and Efficacy of SGN-LIV1A Plus Pembrolizumab for Patients With Locally-Advanced or Metastatic Triple-Negative Breast Cancer
This trial studies ladiratuzumab vedotin (LV) with pembrolizumab in patients with triple-negative breast cancer. It will find out what side effects happen when participants get these two drugs.
- Trial name
- NCT03310957
- Testing
- ladiratuzumab vedotin, Pembrolizumab
- Where
- 50 sites in United States, Germany and 2 more
- Volunteers
- 185 people
- Sponsor
- Seagen Inc.
Gaucher Disease, Type 1
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)
This Phase 3 study was designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had reached therapeutic goals with enzyme replacement therapy (ERT).
- Trial name
- ENCORE (NCT00943111)
- Testing
- Eliglustat tartrate, Imiglucerase
- Where
- 34 sites in United States, Argentina and 10 more
- Volunteers
- 160 people
- Sponsor
- Genzyme, a Sanofi Company
Danon Disease
A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
This is a single arm Phase 2 trial to evaluate the efficacy and safety of RP-A501, a recombinant adeno-associated virus serotype 9 (rAAV9) vector containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B)…
- Trial name
- NCT06092034
- Testing
- RP-A501
- Where
- 6 sites in United States, Germany and 2 more
- Volunteers
- 18 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Healthy Volunteers
Single and Multiple Dose Study to Evaluate Safety and Pharmacokinetics of BMS-986533 in Healthy Participants and Assessments of Food and pH Effects on Relative Bioavailability, and Drug-Drug Interaction Potential in Healthy Participants
The purpose of this study is to evaluate the safety and pharmacokinetics of BMS-986533 in healthy participants receiving single and multiple doses, to assess food and pH effects on the relative bioavailability of BMS-986533, and…
- Trial name
- NCT07629999
- Testing
- BMS-986533, Famotidine, Dabigatran Etexilate
- Where
- United States
- Volunteers
- 136 people, healthy volunteers welcome
- Sponsor
- Bristol-Myers Squibb
Phenylketonuria (PKU)
Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU
This is a Phase 3 open-label extension study enrolling adult patients with PKU who were previously treated with pegvaliase in Studies PAL-003 (NCT00924703) or 165-302 (NCT02468570).
- Trial name
- NCT03694353
- Testing
- Pegvaliase
- Where
- 17 sites in United States
- Volunteers
- 37 people
- Sponsor
- BioMarin Pharmaceutical
Dermatitis, Atopic
Tofacitinib Ointment For Atopic Dermatitis (Atopic Eczema)
The study is being conducted to evaluate the efficacy, safety and tolerability of 2% tofacitinib ointment (20 mg/g) BID (twice daily) in subjects with mild to moderate atopic dermatitis compared to placebo (vehicle) BID for 4…
- Trial name
- NCT02001181
- Testing
- Tofacitinib ointment 20mg/g
- Where
- 5 sites in Canada
- Volunteers
- 69 people
- Sponsor
- Pfizer
Hereditary Angioedema
An Extension Study of Donidalorsen (IONIS-PKK-LRx) in Participants With Hereditary Angioedema
The purpose of this study was to evaluate the safety and efficacy of extended dosing of donidalorsen administered subcutaneously (SC), with alternative dosing and/or dose frequency with donidalorsen in participants with…
- Trial name
- NCT04307381
- Testing
- Donidalorsen
- Where
- 7 sites in United States, Netherlands
- Volunteers
- 20 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Atopic Dermatitis (Eczema)
The Effects of an Oral Prebiotic and an Oral Synbiotic Supplement in Combination With a Topical Lotion and Soap On Eczema
The purpose of this study is to examine the effects of 2 dietary supplements (an oral prebiotic and an oral synbiotic) in combination with a topical lotion, and an unscented soap on eczema severity, various skin measures (such as…
- Trial name
- NCT07041892
- Testing
- Prebiotic Supplement + Synbiotic Supplement + Topical Lotion + Unscented Soap
- Where
- Poland
- Volunteers
- 34 people
- Sponsor
- Codex Labs Corporation
Psoriasis
An Exploratory Genetic Study in Participants With Psoriasis
The purpose of this study is to evaluate the association between genetic factors and response to treatment (guselkumab, ustekinumab, adalimumab, or etanercept) and psoriasis (scaly skin rash).
- Trial name
- NCT02155192
- Testing
- No Intervention
- Where
- 19 sites in United States, Canada
- Volunteers
- 712 people
- Sponsor
- Janssen Research & Development, LLC
Prader-Willi Syndrome
A Study of Pitolisant in Patients With Prader-Willi Syndrome
This is a Phase 3, randomized, double-blind, placebo-controlled, multicenter, global clinical study to assess the efficacy and safety of pitolisant in patients living with Prader-Willi syndrome.
- Trial name
- NCT06366464
- Testing
- Pitolisant tablet
- Where
- 57 sites in United States, Australia and 11 more
- Volunteers
- 134 people
- Sponsor
- Harmony Biosciences Management, Inc.
Hypercholesterolemia, Hyperlipoproteinemia Type II
Safety Study of AEM-28 to Treat Refractory Hypercholesterolemia
The purpose of the first part of this study is to determine the safety and tolerability of a single dose of AEM-28, an apolipoprotein E mimetic, in subjects with high total cholesterol who are otherwise healthy subjects.
- Trial name
- NCT02100839
- Testing
- AEM-28, Normal Saline
- Where
- Australia
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- LipimetiX Development, LLC
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
Alpha 1 Antitrypsin Deficiency
A Non-inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Doses of Weekly SC Alpha1-PI 15% Compared With Corresponding Standard IV Alpha1-PI in Participants With Alpha1-Antitrypsin Deficiency (AATD)
This study is designed to compare two different weekly doses of a medicine called Alpha1-Proteinase Inhibitor given by injection under the skin with the standard doses of the same medicine given through a vein.
- Trial name
- SWIFT-SC (NCT07555483)
- Testing
- Alpha-1 15%, Liquid Alpha1-PI
- Where
- 22 sites in United States, Denmark and 7 more
- Volunteers
- 40 people
- Sponsor
- Grifols Therapeutics LLC
Cystic Fibrosis
A Cross-over Study of OligoG in Subjects With Cystic Fibrosis. Fibrosis
The purpose of this study is to determine the safety and local tolerability of multiple dose administration of inhaled OligoG in CF subjects.
- Trial name
- OligoG (NCT01465529)
- Testing
- OligoG CF-5/20, Saline
- Where
- 3 sites in Ireland, United Kingdom
- Volunteers
- 26 people
- Sponsor
- AlgiPharma AS
Erythropoietic Protoporphyria
Pharmacokinetics of Afamelanotide in Erythropoietic Protoporphyria Patients
The purpose of this study is to evaluate the concentration of afamelanotide in serum after the administration of afamelanotide in adolescent and adult EPP patients.
- Trial name
- NCT06388642
- Testing
- Afamelanotide 16mg implant
- Where
- 2 sites in Belgium, Netherlands
- Volunteers
- 28 people
- Sponsor
- Clinuvel Europe Limited
Alpha1-Antitrypsin Deficiency
Study to Learn About the Safety of Fazirsiran and if it Can Help People With Alpha-1 Antitrypsin Liver Disease With Mild Liver Scarring (Fibrosis)
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 the AAT protein, called Z-AAT.
- Trial name
- NCT06165341
- Testing
- Fazirsiran Injection
- Where
- 41 sites in United States, Austria and 11 more
- Volunteers
- 50 people
- Sponsor
- Takeda
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