Clinical trials: Genetic Disorder
Hypophosphatasia (HPP)
A Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ALE1 in Healthy Adults and Adults With Hypophosphatasia in Order to Identify Suitable Doses of ALE1
This is a phase 1/2a randomised, placebo controlled, double-blind study investigating the safety, tolerability, pharmacokinetics, and pharmacodynamics of ALE1 on healthy adult subjects and adult patients with Hypophosphatasia…
- Trial name
- NCT07179640
- Testing
- ALE1
- Where
- 3 sites in Germany, New Zealand and 1 more
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Alesta Therapeutics
Muscular Dystrophy, Duchenne
A Study of Tadalafil for Duchenne Muscular Dystrophy
The main purpose of this study is to determine if tadalafil can slow the decline in walking ability of boys who have Duchenne muscular dystrophy (DMD).
- Trial name
- NCT01865084
- Testing
- Tadalafil
- Where
- 62 sites in United States, Argentina and 14 more
- Volunteers
- 331 people
- Sponsor
- Eli Lilly and Company
Cystic Fibrosis
Assess Increased Mortality Risk With Each Year of Delayed Tobramycin Solution (TIS) Initiation, and Effect of TIS on Mortality Across Study Centers
Using CFF registry data, this analysis will: describe patterns of time to TIS initiation from first year of TIS eligibility, estimate the increased risk of death attributable to each year of delayed TIS initiation, and…
- Trial name
- NCT01460849
- Sponsor
- Novartis Pharmaceuticals
Muscular Dystrophies, Muscular Dystrophy, Duchenne
A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
HOPE-3 is a two cohort, Phase 3, multi-center, randomized, double-blind, placebo-controlled clinical trial evaluating the efficacy and safety of a cell therapy called deramiocel (CAP-1002) in study participants with Duchenne…
- Conditions
- Muscular Dystrophies, Muscular Dystrophy, Duchenne, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- HOPE-3 (NCT05126758)
- Testing
- Deramiocel (CAP-1002)
- Where
- 20 sites in United States
- Volunteers
- 106 people
- Sponsor
- Capricor Inc.
Lowe Syndrome
An Open-label, Phase 2 Pilot Study on the Efficacy and Safety of Piclidenoson in Patients With Lowe Syndrome
The primary objective of this trial is to: 1. Evaluate the efficacy of piclidenoson to increase renal uptake of 99mTc-labeled DMSA, in comparison to baseline, after 6 months (26 weeks) of treatment as a measure the reabsorption…
- Trial name
- NCT07410455
- Testing
- Piclidenoson
- Where
- Italy
- Volunteers
- 5 people
- Sponsor
- Can-Fite BioPharma
Homozygous Familial Hypercholesterolemia
Study to Evaluate the Effects of MBX-8025 in Patients With HoFH
A 12-week, open-label, dose-escalating, phase 2 study to evaluate the effects of MBX-8025 in patients with Homozygous Familial Hypercholesterolemia (HoFH).
- Trial name
- NCT02472535
- Testing
- MBX-8025 50 mg (Dose Escalation Period 1), MBX-8025 50 mg or 100 mg (Dose Escalation Period 2), MBX-8025 50 mg, 100 mg or 200 mg (Dose Escalation Period 3)
- Where
- 5 sites in Canada, France and 2 more
- Volunteers
- 13 people
- Sponsor
- Gilead Sciences
Hemophilia B
Study of Recombinant Factor IX Product, IB1001, in Previously Treated Pediatric Subjects With Hemophilia B
The Study's Primary Objective is to evaluate the pharmacokinetics, safety (acute effects associated with infusions, and inhibitor development) and efficacy (breakthrough bleeding and control of hemorrhaging during prophylaxis) of…
- Trial name
- NCT01271868
- Testing
- IB1001
- Where
- 10 sites in United States, India and 1 more
- Volunteers
- 9 people
- Sponsor
- Medexus Pharma, Inc.
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome
To explore the efficacy, safety and tolerability of STX209 (arbaclofen) administered for the treatment of social withdrawal in adolescents and adults with fragile X syndrome (FXS)
- Trial name
- Harbor-A (NCT01282268)
- Testing
- arbaclofen
- Where
- 24 sites in United States
- Volunteers
- 125 people
- Sponsor
- Seaside Therapeutics, Inc.
Hypercholesterolemia
Efficacy and Safety of Colesevelam in Pediatric Patients With Genetic High Cholesterol
This study will evaluate the lipid-lowering effect and safety of colesevelam therapy administered to heterozygous familial pediatric patients 10 through 17 years of age who are on a stable dose of a pediatric-approved statin…
- Trial name
- NCT00145574
- Testing
- colesevelam HCl
- Where
- 25 sites in United States, Australia and 6 more
- Volunteers
- 194 people
- Sponsor
- Daiichi Sankyo
Thyroid Eye Disease (TED)
A Safety and Tolerability Study of VRDN-003 in Participants With Thyroid Eye Disease (TED)
This is a clinical trial assessing the safety and tolerability of an investigational drug, VRDN-003, in participants with Thyroid Eye Disease (TED).
- Trial name
- NCT06812325
- Testing
- VRDN-003
- Where
- 64 sites in United States, France and 5 more
- Volunteers
- 320 people
- Sponsor
- Viridian Therapeutics, Inc.
Hypertension
Antihypertensive Effect of Different Doses of Rostafuroxin in Comparison With Losartan
The principal aim of the study is to demonstrate that Rostafuroxin is able to induce a more pronounced reduction of arterial blood pressure respect to Losartan, in hypertensive patients carrying at least one of the pre-specified…
- Trial name
- NCT03217825
- Testing
- Rostafuroxin, Losartan
- Where
- Taiwan
- Volunteers
- 240 people
- Sponsor
- Windtree Therapeutics
Hereditary Angioedema
A Single and Multiple Doses Safety, Tolerability, Pharmacokinetics and Food Effect Study of KVD824 in Healthy Volunteers
This is a 3 part phase 1, randomized, double-blind, placebo-controlled, study of the safety, tolerability, and pharmacokinetics of KVD824 following administration of single and multiple ascending oral doses; followed by a…
- Trial name
- NCT05178355
- Testing
- KVD824
- Where
- United Kingdom
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- KalVista Pharmaceuticals, Ltd.
Anemia, Sickle Cell, Sickle Cell Anemia
Safety Study of MP4CO in Adult Sickle Cell Patients
Sickle Cell Anemia is caused by an inherited hemoglobin disorder. Healthy red blood cells are discoid and can deform and move through small blood vessels to carry oxygen to all parts of the body.
- Conditions
- Anemia, Sickle Cell, Sickle Cell Anemia, Sickle Cell Disease, Sickle Cell Disorders
- Trial name
- NCT01356485
- Testing
- MP4CO, Sodium chloride solution
- Where
- 5 sites in France, Jamaica and 2 more
- Volunteers
- 32 people
- Sponsor
- Sangart
Congenital Afibrinogenemia, Hypofibrinogenemia
FIB Grifols Congenital Deficiency for On-demand Treatment and Surgical Prophylaxis
This is a phase 3, multi-center, prospective, open-label, single-arm, clinical trial to be carried out in subjects with congenital fibrinogen deficiency manifested as afibrinogenemia or severe hypofibrinogenemia.
- Trial name
- NCT04636268
- Testing
- FIB Grifols
- Sponsor
- Instituto Grifols, S.A.
Atopic Dermatitis
Oral DS107 in Moderate to Severe Atopic Dermatitis
This study will compare the safety and efficacy of Oral DS107 (2 g) to placebo in patients with moderate to severe atopic dermatitis. Oral DS107 (2 g) will be orally administered for 8 weeks, and will be compared against placebo.
- Trial name
- NCT02211417
- Testing
- Oral DS107
- Where
- 14 sites in United States, Canada
- Volunteers
- 102 people
- Sponsor
- Dignity Sciences Ltd.
Transthyretin (TTR) Amyloid Cardiomyopathy
Safety and Efficacy of Tafamidis in Patients With Transthyretin Cardiomyopathy
This Phase 3 study will investigate the efficacy, safety and tolerability of an oral daily dose of 20 mg or 80 mg tafamidis meglumine capsules compared to placebo in subjects with either transthyretin genetic variants or…
- Trial name
- ATTR-ACT (NCT01994889)
- Testing
- Tafamidis
- Where
- 80 sites in United States, Belgium and 11 more
- Volunteers
- 441 people
- Sponsor
- Pfizer
Sickle Cell Disease
Safety and Efficacy of Orally Administered NUV001 Nutraceutical Supplement in Sickle Cell Disease Patients
This multicenter, randomized, double-blind, parallel-group, placebo-controlled pilot study evaluated the safety, tolerability, and exploratory efficacy of orally administered NUV001 in adult participants with sickle cell disease…
- Trial name
- NCT05791591
- Testing
- NUV001 - IR, NUV001 - GR
- Where
- 9 sites in India
- Volunteers
- 168 people
- Sponsor
- LGD
Hemophilia A
Clinical Study to Investigate the Pharmacokinetics, Efficacy, Safety and Immunogenicity of a Recombinant FVIII in Patients With Severe Hemophilia A
This is a clinical study to investigate the pharmacokinetics, efficacy, safety and immunogenicity of human-cl rhFVIII, a newly developed human cell-line derived recombinant FVIII concentrate in previously treated patients with…
- Trial name
- NCT00989196
- Testing
- Human-cl rhFVIII, Kogenate FS
- Where
- 9 sites in United States, Bulgaria and 1 more
- Volunteers
- 22 people
- Sponsor
- Octapharma
Retinitis Pigmentosa
Role of UC-MSC and CM to Inhibit Vision Loss in Retinitis Pigmentosa Phase I/II
The study will perform UC-MSCs and CM transplantation. There are two groups with different dosages. The first group will be transplanted with 1.5 million cells, meanwhile, the second group is 5 million cells.
- Trial name
- NCT05909488
- Testing
- 1.5 x 10^6 UC-MSC + CM, 5 x 10^6 UC-MSC + CM
- Where
- Indonesia
- Volunteers
- 30 people
- Sponsor
- PT. Prodia Stem Cell Indonesia
Cytomegalovirus Infections, HIV Infections
Ganciclovir: Compassionate Use in Patients With Serious or Life-Threatening Cytomegalovirus Infections
To provide ganciclovir on a compassionate use basis to immunocompromised patients with serious cytomegalovirus (CMV) infections and to study safety and efficacy in this patient population.
- Trial name
- NCT00002024
- Testing
- Ganciclovir
- Where
- United States
- Sponsor
- Hoffmann-La Roche