Clinical trials: Genetic Diseases
Friedreich Ataxia
A Double-Blind, Placebo-Controlled, Dose Exploration Study of CTI-1601 in Adult Subjects With Friedreich's Ataxia
To evaluate the safety and tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of subcutaneous (SC) administration of CTI-1601 over 28 days in subjects with Friedreich's ataxia (FRDA).
- Trial name
- NCT05579691
- Testing
- CTI-1601
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Larimar Therapeutics, Inc.
Primary Ciliary Dyskinesia
A Study Providing Genetic Testing to Find Those Who May Have Primary Ciliary Dyskinesia for Potential Clinical Trials
Primary purpose is to identify individuals who have PCD due to a genetic mutation within the DNAI1 and other genes of interest to help refer participants to future clinical studies for this rare disease.
- Trial name
- NCT06172374
- Testing
- Sano Genetics Testing Kit
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- ReCode Therapeutics
Atopic Dermatitis
Safety, Tolerability, and Preliminary Efficacy of Soquelitinib in Participants With Moderate to Severe AD
Safety, tolerability, and preliminary efficacy of soquelitinib in participants with moderate to severe AD
- Trial name
- NCT06345404
- Testing
- Soquelitinib
- Where
- 16 sites in United States
- Volunteers
- 82 people
- Sponsor
- Corvus Pharmaceuticals, Inc.
Atopic Dermatitis
HL-300 Ointment in Patients With Mild-to-Moderate Atopic Dermatitis
This study is a randomized, double-blind, placebo-controlled, multicenter Phase Ib/II clinical study designed to evaluate the efficacy, safety, and PK characteristics of HL-300 ointment with different concentration regimens for…
- Trial name
- NCT07629778
- Testing
- HL-300
- Where
- China
- Volunteers
- 156 people
- Sponsor
- Hangzhou Highlightll Pharmaceutical Co., Ltd
Neuronal Ceroid Lipofuscinosis
Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis
The purpose of this Phase Ib study is to determine if "Human Central Nervous System Stem Cells"(HuCNS-SC) is safe to be transplanted in subjects with infantile and late infantile neuronal ceroid lipofuscinosis.
- Trial name
- NCT01238315
- Testing
- HuCNS-SC
- Where
- United States
- Sponsor
- StemCells, Inc.
Atopic Dermatitis
CBP-201 in Adolescent and Adult Patients With Moderate-to-severe Atopic Dermatitis
This is a Phase 3, randomized, double-blinded, placebo-controlled trial in patients, ≥12 years of age who weigh ≥40 kg, and are diagnosed with moderate-to-severe AD.
- Trial name
- NCT05614817
- Testing
- CBP-201
- Sponsor
- Connect Biopharm LLC
Atopic Dermatitis
A Study to Assess the Safety, Tolerability, and Efficacy of Rocatinlimab in Adolescent Participants With Moderate-to-severe Atopic Dermatitis (AD)
The primary objective of this study is to describe the safety and tolerability of rocatinlimab in adolescents with moderate-to-severe AD.
- Trial name
- ROCKET-Orbit (NCT05633355)
- Testing
- Rocatinlimab
- Where
- 77 sites in United States, Argentina and 7 more
- Volunteers
- 187 people
- Sponsor
- Amgen
Tourette Syndrome
Alternatives for Reducing Tics in Tourette Syndrome (TS): A Study of TEV-50717 (Deutetrabenazine) for the Treatment of Tourette Syndrome in Children and Adolescents
This is a study to evaluate the efficacy and safety of deutetrabenazine (TEV-50717) tablets for the reduction of motor and phonic tics associated with TS in children and adolescents 6 through 16 years of age.
- Trial name
- ARTISTS1 (NCT03452943)
- Testing
- TEV-50717
- Where
- 42 sites in United States, Canada and 4 more
- Volunteers
- 119 people
- Sponsor
- Teva Branded Pharmaceutical Products R&D, Inc.
Alagille Syndrome
An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Subjects With Alagille Syndrome (ALGS)
The purpose of this extension study is to determine the long-term safety and tolerability of an investigational treatment (LUM001 also known as Maralixibat) in children with ALGS who have completed participation in a core LUM001…
- Trial name
- IMAGINE (NCT02047318)
- Testing
- LUM001 (Maralixibat)
- Where
- 3 sites in United Kingdom
- Volunteers
- 19 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Pompe Disease
Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease
The main purpose of this study was to determine the safety and tolerability of 3 different doses of duvoglustat (AT2220) in participants affected by Pompe disease.
- Trial name
- NCT00688597
- Testing
- Duvoglustat
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Amicus Therapeutics
Hypophosphatasia (HPP)
Registry of Patients With Hypophosphatasia
In this prospective, observational, long term registry patients of all ages with a diagnosis of hypophosphatasia (HPP) are followed at participating sites in multiple countries.
- Trial name
- NCT02306720
- Where
- 66 sites in United States, Australia and 10 more
- Volunteers
- 1,571 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Atopic Dermatitis
A Study to Determine the Safety & Efficacy of ZPL-5212372 in Healthy Subjects and in Subjects With Atopic Dermatitis
A Randomised, Adaptive Design, Double-Blind (3rd Party Open), Placebo Controlled, Sequential Group Study to Determine the Safety,Tolerability, Pharmacokinetics and Efficacy of Twice Daily Application of a Topical ZPL-5212372…
- Trial name
- NCT02795832
- Testing
- ZPL-5212372 1% w/w Ointment BID
- Where
- 3 sites in United Kingdom
- Volunteers
- 53 people, healthy volunteers welcome
- Sponsor
- Ziarco Pharma Ltd
Atopic Dermatitis
Study to Determine the Pharmacokinetics of Product 0405
The purpose of this study is to evaluate the Pharmacokinetics of Product 0405 in the Treatment of Atopic Dermatitis in Adolescent Subjects.
- Trial name
- NCT02176577
- Testing
- Product 0405
- Sponsor
- Fougera Pharmaceuticals Inc.
Atopic Dermatitis
Phase 2a Study to Assess the Efficacy,Safety and Tolerability of GIA632 in Adult Participants With Moderate to Severe Atopic Dermatitis
The main purpose of this Ph2a study is to evaluate the preliminary efficacy, safety and tolerability of GIA632 when administered to adult participants with moderate to severe atopic dermatitis (AD).
- Trial name
- NCT07220577
- Testing
- GIA632
- Where
- 28 sites in United States, Bulgaria and 7 more
- Volunteers
- 34 people
- Sponsor
- Novartis Pharmaceuticals
Irritable Bowel Syndrome
8 Weeks Treatment With DDP225 in Patients With Diarrhea Predominant IBS
In this study, female patients with IBS-d will be treated for 8 weeks to assess the safety and effectiveness of DDP225 on GI transit and in reducing IBS symptoms.
- Trial name
- NCT00230581
- Testing
- DDP225
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Dynogen Pharmaceuticals
MELAS Syndrome, Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
A Study to Assess TTI-0102 vs Placebo in MELAS Patients
This is a randomized, double-blind, placebo-controlled study. Prior to treatment, patients will undergo a screening visit. If eligible, each subject will return for a Day 1 visit and will receive their first dose of…
- Trial name
- NCT06644534
- Testing
- TTI-0102
- Where
- 2 sites in France, Netherlands
- Volunteers
- 9 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
Late Infantile Metachromatic Leukodystrophy
Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
This is a single center, open-label study of patients with late infantile MLD. All patients were previous treated 26 weeks in the phase I trial (EudraCT number: 2006-005341-11, NCT00418561).
- Trial name
- NCT00633139
- Testing
- Recombinant human Arylsulfatase A (rhASA)
- Where
- Denmark
- Volunteers
- 13 people
- Sponsor
- Shire
Sickle Cell Disease
Pharmacokinetics and Pharmacodynamics of Rifaximin Novel Formulations in Patients With Sickle Cell Disease
This is a randomized, double-blind, placebo-controlled study in sickle cell disease participants with a history of Vaso-occlusive Crises (VOCs).
- Trial name
- NCT05098028
- Testing
- Low Dose Rifaximin ER, Low Dose Rifaximin DER, High Dose Rifaximin ER
- Where
- 8 sites in United States, Canada and 1 more
- Volunteers
- 44 people
- Sponsor
- Bausch Health Americas, Inc.
Dermatitis, Atopic
Place of Flixovate® in the Treatment Pathway and Its Conditions of Use in Infants Aged From 3 to 12 Months Between 2010 and 2012 by French GPs and Private Paediatricians
this study has been request by french health authorities to evaluate the use of flixovate in infants and its place in the treatment pathway.
- Trial name
- flixovate HAS (NCT01920464)
- Volunteers
- 160 people
- Sponsor
- GlaxoSmithKline
Jansky-Bielschowsky Disease, Batten Disease
An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease
The Phase 1/2 study (190-201) evaluated the efficacy and safety of a 300 mg dose of BMN 190 administered every other week (qow) to patients with CLN2.
- Conditions
- Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease
- Trial name
- NCT02485899
- Testing
- BMN 190, Intracerebroventricular (ICV) access device
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 23 people
- Sponsor
- BioMarin Pharmaceutical
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