Clinical trials: Genetic Diseases
Wrinkle, Acne Scars - Mixed Atrophic and Hypertrophic
AV-23-001 AVAVA MIRIA Pilot Study
This non-significant risk study is intended to demonstrate the use of the MIRIA Skin Treatment System can show improvement in dermatologic conditions currently indicated for treatment with a laser (such as, but not limited to…
- Conditions
- Wrinkle, Acne Scars - Mixed Atrophic and Hypertrophic, Pigmented Lesions, Skin Laxity
- Trial name
- NCT06557434
- Testing
- MIRIA
- Where
- 2 sites in United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- AVAVA, Inc.
Netherton Syndrome
Natural History of Netherton Syndrome
The goal of this non-interventional study (NIS) is to collect real-world data to describe the natural history of Netherton Syndrome (NS).
- Trial name
- NCT05902663
- Where
- 4 sites in United States, Italy
- Volunteers
- 4 people
- Sponsor
- Boehringer Ingelheim
Atopic Dermatitis
Administration for Placebo Group and Evalution the Safety and Efficacy in Atopic Dermatitis Patients
A Multi-center, Open, Single-arm Clinical Trial to Evaluate the Safety and Efficacy of FURESTEM-AD inj. in Patients with Moderate to Severe Chronic Atopic Dermatitis Who Participated in a Placebo Group in K0102 Clinical Trial…
- Trial name
- NCT04087863
- Testing
- Not applicable(observational study)
- Where
- South Korea
- Volunteers
- 99 people
- Sponsor
- Kang Stem Biotech Co., Ltd.
Hemophilia A
Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Recombinant Coagulation Factor VIII Fc Fusion Protein (rFVIIIFc) in Previously Treated Pediatric Subjects With Hemophilia A
The primary objective of the study is to evaluate the safety of Recombinant Coagulation Factor VIII Fc Fusion Protein (rFVIIIFc) in previously treated pediatric subjects with hemophilia A.
- Trial name
- Kids ALONG (NCT01458106)
- Testing
- BIIB031 (rFVIIIFc), FVIII (PK subgroup only)
- Where
- 23 sites in United States, Australia and 6 more
- Volunteers
- 71 people
- Sponsor
- Bioverativ Therapeutics Inc.
Hyperlipoproteinemia Type II, Homozygous Familial Hypercholesterolemia
Efficacy and Tolerability of Anacetrapib Added to Ongoing Lipid-Lowering Therapy in Adult Participants With Homozygous Familial Hypercholesterolemia (HoFH) (MK-0859-042)
This study will evaluate the safety and effect of anacetrapib on low-density lipoprotein-cholesterol (LDL-C) when added to ongoing lipid-lowering therapy.
- Trial name
- NCT01841684
- Testing
- Anacetrapib
- Volunteers
- 2 people
- Sponsor
- Merck Sharp & Dohme LLC
Achondroplasia
Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)
This is a long-term, multi-center, observational study in children 2.5 to <17 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications, assessments of health-related quality of life…
- Trial name
- NCT04035811
- Where
- 32 sites in United States, Argentina and 9 more
- Volunteers
- 271 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Niemann-Pick Disease, Type C
VTS-270 to Treat Niemann-Pick Type C1 (NPC1) Disease
Due to different study designs, the sponsor separated Part C into a separate registration (NCT04958642), leaving Parts A/B here in NCT02534844.
- Trial name
- NCT02534844
- Testing
- Parts A/B: Adrabetadex
- Where
- 29 sites in United States, Australia and 7 more
- Volunteers
- 56 people
- Sponsor
- Mandos LLC
Leigh Syndrome
A Study of the Natural Course of SURF1 Deficiency
The purpose of the study is to prospectively and systematically collect standardized clinical information, to describe important features of the disease course of SURF1 deficiency.
- Trial name
- NCT05277363
- Testing
- None (Observational study)
- Where
- United States
- Sponsor
- Taysha Gene Therapies, Inc.
Achondroplasia
A Study in Children With Achondroplasia
The goal of this observational study is to collect the anthropometric parameters, clinical characteristics, related medical complications, health-related quality of life and treatments of children with ACH, and complete a natural…
- Trial name
- NCT07301463
- Testing
- No Interventions, complete a natural history observation of ACH for at least 6 months and up to 2 years
- Where
- 8 sites in China
- Volunteers
- 260 people
- Sponsor
- Abbisko Therapeutics Co, Ltd
Dermatitis, Atopic, Dermatitis, Contact
Efficacy and Tolerability of Prednisolone Acetate 0.5% Cream Versus Betamethasone Valerate 0.1% Cream in Cortisosensitive Dermatosis
Topical corticosteroids are largely used in dermatology. The major problem related to their use is that the same mechanisms underlying their therapeutic effects (antiinflammatory and antiproliferative) may lead to adverse events.
- Conditions
- Dermatitis, Atopic, Dermatitis, Contact, Dermatitis, Seborrheic, Psoriasis
- Trial name
- NCT01011621
- Testing
- 0.5% prednisolone acetate cream, 0.1% betamethasone valerate cream
- Volunteers
- 170 people
- Sponsor
- Mantecorp Industria Quimica e Farmaceutica Ltd.
Pain
An Exploratory Study to Assess the Effects of JNJ-39439335 on the Relief of Pain Using a Thermal-Grill Experimental Model
This exploratory study will use a thermal-grill experimental model to assess the effects of JNJ-39439335 (50 mg, single oral dose) on the relief of pain.
- Trial name
- NCT01006304
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Johnson & Johnson Pharmaceutical Research & Development, L.L.C.
Becker Muscular Dystrophy
Safety and Biomarker Response to (+)-Epicatechin in Becker Muscular Dystrophy
This is a Phase 1, open-label, dose escalation study aimed at evaluating the safety, early efficacy and potential biomarkers of (+)-epicatechin in patients with Becker or Becker-like Muscular Dystrophy (BMD).
- Trial name
- NCT04386304
- Testing
- (+)-Epicatechin
- Where
- 3 sites in United States
- Volunteers
- 22 people
- Sponsor
- Epirium Bio Inc.
Bone Mineral Density, Hemophilia A
Osteoporosis and MRI Study in Hemophilia
The purpose of this study is to evaluate bone mineral density in adult subjects with hemophilia versus a comparator population without hemophilia (non-hemophilia age- and gender-matched database) by using the following diagnostic…
- Conditions
- Bone Mineral Density, Hemophilia A, Hemophilia B
- Trial name
- NCT01460147
- Testing
- DXA scan + MRI
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Baxalta now part of Shire
Atopic Dermatitis
Safety and Efficacy of ADSTEM Inj. in Patients With Moderately Subacute and Chronic Atopic Dermatitis
This study aims to evaluate safety, tolerance, and efficacy in subjects with over moderately subacute and chronic atopic dermatitis after an intravenous injection of autologous mesenchymal stem cells.
- Trial name
- NCT02888704
- Testing
- ADSTEM Inj. (Adult human mesenchymal stem cells)
- Where
- South Korea
- Volunteers
- 13 people
- Sponsor
- EHL Bio Co., Ltd.
Cryopyrin-Associated Periodic Syndromes (CAPS)
HL2351 CAPS Phase II Study
This is an open label, single arm trial to evaluate the efficacy, safety, and pharmacokinetics of HL2351 in patients with cryopyrin associated periodic syndromes (CAPS).
- Trial name
- NCT02853084
- Testing
- HL2351
- Where
- South Korea
- Volunteers
- 8 people
- Sponsor
- Handok Inc.
Chronic Kidney Diseases, Alport Syndrome
An Extended Access Program for Bardoxolone Methyl in Patients With CKD (EAGLE)
This extended access study will assess the long-term safety and tolerability of bardoxolone methyl in qualified patients with chronic kidney disease (CKD) who previously participated in one of the qualifying clinical studies with…
- Conditions
- Chronic Kidney Diseases, Alport Syndrome, Autosomal Dominant Polycystic Kidney
- Trial name
- EAGLE (NCT03749447)
- Testing
- Bardoxolone methyl
- Where
- 87 sites in United States, Australia and 4 more
- Volunteers
- 270 people
- Sponsor
- Biogen
Hypercholesterolemia, Mixed Hyperlipemia
MK0859 Dose-Ranging Study (0859-003)
To assess the cholesterol changing effects of MK0859 in patients with primary hypercholesterolemia or mixed dyslipidemia.
- Trial name
- NCT00325455
- Testing
- MK0859
- Volunteers
- 500 people
- Sponsor
- Merck Sharp & Dohme LLC
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
Hemophilia B
Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B
To assess efficacy and safety of BeneFix® for prophylaxis in "Short-term" therapy and on demand therapy for all bleeding episodes of subjects with hemophilia B.
- Trial name
- NCT00581126
- Testing
- Recombinant Factor IX Coagulation
- Volunteers
- 14 people
- Sponsor
- Wyeth is now a wholly owned subsidiary of Pfizer
Pseudomonas Aeruginosa Infection
Study to Evaluate Arikayce™ in CF Patients With Chronic Pseudomonas Aeruginosa Infections
A major factor in the respiratory health of Cystic Fibrosis (CF) participants is the prevalence of chronic Pseudomonas aeruginosa (Pa) infections.
- Trial name
- NCT01315678
- Testing
- Liposomal amikacin for inhalation (Arikayce™) using the PARI Investigational eFlow® Nebulizer., Tobramycin inhalation solution using a PARI LC® Plus nebulizer.
- Where
- 62 sites in Austria, Belgium and 16 more
- Volunteers
- 302 people
- Sponsor
- Insmed Incorporated
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