Clinical trials: Genetic Diseases
Atopic Dermatitis, Infant, Newborn
Moisturizer Mediated Prevention of Symptoms of Atopic Dermatitis in Early Childhood
In this study, it will be investigated if symptoms of atopic dermatitis of children with high familial risk will be delayed beyond the 6th or even 12th month of life by applying the SanaCutan Basiscreme.
- Trial name
- MOPAD (NCT04398758)
- Testing
- SanaCutan Basiscreme
- Where
- 10 sites in Germany
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- Infectopharm Arzneimittel GmbH
Atopic Dermatitis, Atopic
ATI-045 Versus Placebo in Patients With Moderate-to-Severe Atopic Dermatitis
This study evaluates ATI-045 versus placebo in patients with Moderate-to-Severe Atopic Dermatitis.
- Conditions
- Atopic Dermatitis, Atopic, Dermatitis, AD
- Trial name
- NCT07011706
- Testing
- ATI-045
- Where
- 60 sites in United States, Canada
- Volunteers
- 110 people
- Sponsor
- Aclaris Therapeutics, Inc.
Seizures, Epilepsy
A Study of the Safety of Topiramate Given in Combination With Other Medications in Adults and Children With Seizures
The purpose of this observational study is to evaluate the safety of topiramate when used in combination with other medications for seizures in adults and children.
- Trial name
- NCT00297349
- Testing
- Topiramate
- Volunteers
- 153 people
- Sponsor
- Janssen Cilag Pharmaceutica S.A.C.I., Greece
Atopic Dermatitis
A Phase I Study of HY209 Gel in Healthy Male Volunteers for Atopic Dermatitis
A randomized, double-blind, placebo-controlled single and multiple dosing, dose escalation phase I clinical trial to investigate the safety/tolerability and pharmacokinetics of HY209 gel after transdermal administration in…
- Trial name
- Shaperon (NCT03492398)
- Testing
- HY209
- Where
- South Korea
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Shaperon
Fragile X Syndrome
Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX)
This trial will evaluate the efficacy and safety of ZYN002, a clear cannabidiol gel that can be applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X Syndrome…
- Trial name
- CONNECT-FX (NCT03614663)
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 21 sites in United States, Australia and 1 more
- Volunteers
- 212 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.
Congenital Adrenal Hyperplasia, Adrenal Insufficiency
An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone
This was an open label, randomized, single dose, three period crossover pharmacokinetic study of Chronocort® in 30 healthy male volunteers. The study was conducted in smaller sub groups (Group 1, n=18 and Group 2, n=12).
- Trial name
- NCT03019614
- Testing
- Hydrocortisone, Chronocort
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Neurocrine UK Limited
Mucopolysaccharidosis III-A
A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome)
This protocol is a decentralized, single cohort, natural history and biomarker study enrolling up to 20 participants with MPS IIIA (Sanfilippo syndrome).
- Trial name
- NCT05523206
- Testing
- No intervention
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Sanguine Biosciences
Sickle Cell Disease, Sickle Cell Anemia in Children
PINPOINT: Gaming Technology for SCD Pain
Sickle cell disease (SCD) is a common genetic disorder characterized by episodes of pain, yet programs to assist SCD adolescents with better identification and communication about pain are lacking.
- Conditions
- Sickle Cell Disease, Sickle Cell Anemia in Children, Sickle Cell Thalassemia, Sickle Cell SC Disease
- Trial name
- Pinpoint II (NCT04579926)
- Testing
- Pinpoint app
- Where
- 2 sites in United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Klein Buendel, Inc.
RETT Syndrome With Proven MECP2 Mutation, Rett Syndrome
Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
The FENRTT2 study will investigate the efficacy and safety of a medicinal cannabis plant extract with extremely low THC (delta-9-tetrahydrocannabinol), NTI164, on Rett syndrome (RTT) in a crossover design.
- Trial name
- TRANSCEND (NCT07257978)
- Testing
- NTI164
- Where
- Australia
- Volunteers
- 40 people
- Sponsor
- Fenix Innovation Group
Fabry Disease
PK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV Infusion
Pharmacokinetic/Pharmacodynamic Study of 2 agalsidase beta Formulations in Single Dose Administered to Healthy Volunteers as intravenous infusion, at a concentration of 1 mg/kg
- Trial name
- NCT05343715
- Testing
- Agalsidase beta from Biosidus 1 mg/kg, Fabrazyme (agalsidase beta) 1 mg/kg
- Where
- Argentina
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Bio Sidus SA
Pachyonychia Congenita
VALO-2: Study Evaluating the Safety and Efficacy of PTX022 in the Treatment of Adults With Pachyonychia Congenita
VALO-2 is a multicenter, open-label extension (OLE) study enrolling patients with genotyped keratin mutations KRT6A, KRT6B and KRT16 who were previously treated with investigational PTX-022 during the VALO study.
- Trial name
- VALO-2 (NCT04520750)
- Testing
- PTX-022
- Where
- 4 sites in United States
- Volunteers
- 36 people
- Sponsor
- Palvella Therapeutics, Inc.
Cystic Fibrosis
Study to Validate the Instructions for Use of TOBI® Podhaler™ in Cystic Fibrosis Patients
The purpose of this actual use human factors (HF) study is to validate the approved US TOBI Podhaler Instructions for Use (IFU), by establishing that the IFU effectively communicates the information necessary to achieve safe and…
- Trial name
- NCT02178540
- Testing
- Tobi Podhaler
- Where
- 13 sites in United States
- Volunteers
- 45 people
- Sponsor
- Novartis Pharmaceuticals
Friedreich's Ataxia
Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI)
This is a Phase IIIb Double-Blind, Randomised, Placebo-Controlled Study. The aim is to further investigate the effects of idebenone in patients with Friedreich's ataxia.
- Trial name
- PROTI (NCT01303406)
- Testing
- Idebenone
- Where
- 6 sites in Austria, Germany and 2 more
- Volunteers
- 29 people
- Sponsor
- Santhera Pharmaceuticals
Skin Laxity
Feasibility Study: Treatment of Post-surgery and Surgery Naive Patients Who Failed to Respond to a Previous Ulthera Treatment
Up to 10 subjects will be enrolled. All subjects will receive an increased density UltherapyTM treatment at dual depth. Treatments will be provided to the lower 2/3 of the face and neck.
- Trial name
- NCT01708252
- Testing
- Ulthera System Treatment
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Ulthera, Inc
Dermatitis, Atopic
Study to Assess the Potential for Adrenal Suppression Following Treatment With DSXS in Patients With Atopic Dermatitis
this study is to evaluate the potential of DSXS to suppress HPA axis function in patients with moderate to severe atopic dermatitis.
- Trial name
- NCT02595008
- Testing
- DSXS
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Sun Pharmaceutical Industries, Inc.
Alpha-1 Antitrypsin Deficiency (AATD)
A Trial Evaluating the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of CTX460 in Adults With Emphysema Associated With Severe Alpha-1 Antitrypsin Deficiency (AATD)
A Study of CTX460 in Adults with Emphysema Associated with Severe Alpha-1 Antitrypsin Deficiency (AATD).
- Trial name
- NCT07850076
- Testing
- CTX460
- Volunteers
- 68 people
- Sponsor
- CRISPR Therapeutics
Aneurysm Arterial, Peripheral Arterial Disease
Safety and Performance of POLYTHESE® Vascular Prosthesis
POLYTHESE® study is a retrospective, observational, multicentre, case series which examine short and long-term outcomes of using POLYTHESE®.
- Conditions
- Aneurysm Arterial, Peripheral Arterial Disease, Marfan Syndrome, Arterial Dissections
- Trial name
- NCT05516043
- Testing
- Implantation with POLYTHESE®
- Where
- 3 sites in France
- Volunteers
- 256 people
- Sponsor
- Perouse Medical
Primary Immunodeficiency Diseases (PID)
Comparison of Intravenous and Subcutaneous Administration of IGIV, 10% in Primary Immunodeficiency (PID) Subjects
The purpose of this study is to evaluate the tolerability of IGIV, 10% given subcutaneously and the pharmacokinetics of immunoglobulin G (IgG) following subcutaneous (SC) treatment with IGIV, 10% in subjects with primary…
- Trial name
- NCT00546871
- Testing
- Immune Globulin Intravenous (Human), 10%
- Where
- 9 sites in United States
- Volunteers
- 49 people
- Sponsor
- Baxalta now part of Shire
Becker Muscular Dystrophy
A Study to Assess Vamorolone in Becker Muscular Dystrophy (BMD)
This Phase II pilot study is a randomized, double-blind, placebo-controlled study to evaluate the safety, tolerability, PK, PD, and exploratory clinical efficacy of vamorolone 500mg (250mg for body weight <50 kg) daily…
- Trial name
- NCT05166109
- Testing
- Vamorolone
- Where
- 2 sites in United States, Italy
- Volunteers
- 46 people
- Sponsor
- ReveraGen BioPharma, Inc.
Healthy Volunteers
A Study to Assess the Pharmacokinetics and Safety of Co-administered Oral Galicaftor, Navocaftor, and ABBV-576 in Healthy Adults for the Treatment of Cystic Fibrosis
Cystic Fibrosis (CF) is a rare, life-threatening, genetic disease that affects the lungs and digestive system, significantly impairing the quality of life, with those affected having a median age of death at 40.
- Trial name
- ABBV-576 DDI (NCT05530278)
- Testing
- Galicaftor, ABBV-576, Navocaftor
- Where
- 4 sites in United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- AbbVie
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