Clinical trials: Inherited Genetic Conditions
- Condition Inherited Genetic Conditions
- Funder type Industry (pharma, biotech, devices)
- Has posted results yes
Growth Disorders
Treatment of Children and Adolescents With Growth Failure Associated With Primary IGF-1 Deficiency
This is an extension study to Tercica study MS301 (NCT00125164) and is intended to collect long term safety and efficacy data on the continued use of recombinant human insulin-like growth factor-1 (rh IGF-1) in children and…
- Trial name
- NCT00330668
- Testing
- rh IGF-1 (mecasermin)
- Where
- France
- Volunteers
- 114 people
- Sponsor
- Ipsen
Hemophilia A, Hemophilia B
Study of the Efficacy and Safety PF-06741086 in Adult and Teenage Participants With Severe Hemophilia A or Moderately Severe to Severe Hemophilia B
Treatment with PF-06741086 is anticipated to demonstrate a clinically relevant advantage and/or a major contribution to patient care in comparison to current methods of treatment for hemophilia A or B because it works differently…
- Trial name
- NCT03938792
- Testing
- PF-06741086
- Where
- 62 sites in United States, Bulgaria and 18 more
- Volunteers
- 188 people
- Sponsor
- Pfizer
Huntington's Disease
Randomized, Placebo Controlled Study Of The Efficacy And Safety Of PF-02545920 In Subjects With Huntington's Disease
This study is a 26 week, randomized, parallel group, double blind comparison of PF-02545920 5 mg, PF-02545920 20 mg, and placebo dosed BID in the treatment of motor impairment of subjects with Huntington's Disease.
- Trial name
- NCT02197130
- Testing
- PF-02545920
- Where
- 57 sites in United States, Canada and 3 more
- Volunteers
- 272 people
- Sponsor
- Pfizer
Hemophilia B
Dose Confirmation Trial of AAV5-hFIXco-Padua
This is an open-label, single-dose, single-arm, multi-center trial, with a screening, a treatment + post-treatment follow-up phase, and a long-term follow-up phase.
- Trial name
- NCT03489291
- Testing
- AAV5-hFIXco-Padua (AMT-061)
- Where
- 4 sites in United States
- Volunteers
- 3 people
- Sponsor
- CSL Behring
Alpha1-antitrypsin Deficiency
GLASSIA Safety, Immunogenicity, and Bronchoalveolar Lavage Study
The purpose of the study is 2-fold: (1) to evaluate the safety and potential immunogenicity of GLASSIA following intravenous (IV) administration via in-line filtration; and (2) to assess the effects of GLASSIA augmentation…
- Trial name
- NCT02525861
- Testing
- GLASSIA
- Where
- 18 sites in United States, Canada
- Volunteers
- 34 people
- Sponsor
- Baxalta now part of Shire
Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3
An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
The TOPAZ study will assess the safety and efficacy of SRK-015 in later-onset Spinal Muscular Atrophy (SMA Type 2 and Type 3) in pediatric and adult patients.
- Conditions
- Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type 2, SMA
- Trial name
- TOPAZ (NCT03921528)
- Testing
- SRK-015
- Where
- 16 sites in United States, Italy and 2 more
- Volunteers
- 58 people
- Sponsor
- Scholar Rock, Inc.
Muscular Dystrophy, Duchenne, Ambulatory Care
Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD)
The aim of this Phase III study was to assess the efficacy of idebenone on pulmonary function, motor function, muscle strength and quality of life in patients with DMD.
- Trial name
- DELOS (NCT01027884)
- Testing
- Idebenone
- Where
- 23 sites in United States, Austria and 8 more
- Volunteers
- 65 people
- Sponsor
- Santhera Pharmaceuticals
Gout, Chronic Kidney Disease (CKD)
A Phase 4 Safety and Efficacy Study to Evaluate Lesinurad 200 mg in Participants With Gout and Renal Impairment
This study evaluates the safety and efficacy of lesinurad administered with an XOI versus a placebo plus an XOI in gout participants who have moderate renal impairment and who are not at target level of serum urate (sUA).
- Trial name
- NCT03226899
- Testing
- Lesinurad, XOI, colchicine
- Where
- 116 sites in United States, Czechia and 2 more
- Volunteers
- 242 people
- Sponsor
- Ironwood Pharmaceuticals, Inc.
Atopic Dermatitis
Topical Ruxolitinib Evaluation in Atopic Dermatitis Study 1 (TRuE AD1) - An Efficacy and Safety Study of Ruxolitinib Cream in Adolescents and Adults With Atopic Dermatitis
The purpose of this study is to assess the efficacy and safety of twice daily ruxolitinib cream in adolescents and adults with Atopic Dermatitis (AD).
- Trial name
- NCT03745638
- Testing
- Ruxolitinib Cream, Vehicle Cream
- Where
- 79 sites in United States, Canada and 5 more
- Volunteers
- 631 people
- Sponsor
- Incyte Corporation
Renal Impairment
Effect of Febuxostat on Renal Function in Patients With Gout and Moderate to Severe Renal Impairment
The purpose of this study is to determine the effect of febuxostat, once daily (QD) or twice daily (BID), on renal function in gout patients with elevated serum urate levels and who have moderate to severe renal impairment.
- Trial name
- NCT01082640
- Testing
- Febuxostat
- Where
- 58 sites in United States
- Volunteers
- 96 people
- Sponsor
- Takeda
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older Homozygous for the F508del-CFTR Mutation
The purpose of this study was to evaluate the safety and efficacy of ivacaftor in participants with cystic fibrosis (CF) who were aged 12 years or older and were homozygous for the F508del-CF transmembrane conductance regulator…
- Trial name
- DISCOVER (NCT00953706)
- Testing
- Ivacaftor
- Where
- 34 sites in United States
- Volunteers
- 140 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystinosis
Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate immediate release) which must be taken every…
- Trial name
- NCT01197378
- Testing
- Cysteamine Bitartrate Delayed-release Capsules
- Where
- 10 sites in United States, France and 1 more
- Volunteers
- 60 people
- Sponsor
- Amgen
Atopic Dermatitis
A Study to Evaluate the Efficacy, and Safety Study of Ruxolitinib Cream in Adults With Moderate Atopic Dermatitis
This study is being conducted to establish the efficacy of ruxolitinib cream in participants with moderate AD who had an inadequate response to, or are intolerant to, or contraindicated to topical corticosteroid (TCS)s and…
- Trial name
- TRuE-AD4 (NCT06238817)
- Testing
- Ruxolitinib Cream, Vehicle Cream
- Where
- 94 sites in United States, Australia and 12 more
- Volunteers
- 241 people
- Sponsor
- Incyte Corporation
Hunter Syndrome
Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment
Study HGT-HIT-094 is a multicenter study designed to determine the effect on clinical parameters of neurodevelopmental status of monthly IT administration of idursulfase-IT 10 mg for 12 months in pediatric patients with Hunter…
- Trial name
- AIM-IT (NCT02055118)
- Testing
- idursulfase-IT, No IT treatment
- Where
- 9 sites in United States, Australia and 5 more
- Volunteers
- 58 people
- Sponsor
- Shire
Cystinosis
Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis
This was a long-term, open-label study of the safety, tolerability and effectiveness of RP103 in cystinosis patients who were naïve to any form of cysteamine treatment.
- Trial name
- NCT01744782
- Testing
- RP103
- Where
- 2 sites in United States, Brazil
- Volunteers
- 17 people
- Sponsor
- Amgen
Atopic Dermatitis
The Purpose of the Study is to Evaluate the Effect of Ruxolitinib Cream on Itch in Participants With Atopic Dermatitis
The purpose of the study is to evaluate the effect of ruxolitinib cream on itch in participants with Atopic Dermatitis.
- Trial name
- SCRATCH-AD (NCT04839380)
- Testing
- ruxolitinib cream
- Where
- 2 sites in Canada
- Volunteers
- 49 people
- Sponsor
- Incyte Corporation
Behcet Disease
1 Year of Treatment With Canakinumab in Behçet's Disease Patients With Neurologic or Vascular Involvement
Primary objective of the study was to evaluate the safety and efficacy of canakinumab on the clinical and inflammatory findings of Behced Disease patients with neurologic and vascular involvement.
- Trial name
- Behcet (NCT02756650)
- Testing
- Canakinumab
- Where
- Turkey (Türkiye)
- Volunteers
- 8 people
- Sponsor
- Novartis Pharmaceuticals
Bardet-Biedl Syndrome, POMC Deficiency
Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway
A trial to compare the weekly and daily formulations of setmelanotide in participants with genetic defects in the melanocortin-4 receptor pathway.
- Trial name
- NCT05194124
- Testing
- Setmelanotide 2 mg, Setmelanotide 2.5 mg, Setmelanotide 3 mg
- Where
- 7 sites in United States, Canada and 4 more
- Volunteers
- 19 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Cystic Fibrosis
Study of LAU-7b in the Treatment of Cystic Fibrosis in Adults
An International Phase II, double-blind, randomized, placebo-controlled study to evaluate the safety and efficacy of LAU-7b administered once-daily for 6 months for the treatment of CF.
- Trial name
- APPLAUD (NCT03265288)
- Testing
- LAU-7b
- Where
- 40 sites in United States, Australia and 1 more
- Volunteers
- 166 people
- Sponsor
- Laurent Pharmaceuticals Inc.
Gout
Validation Study of Physical Measurement of Tophi
The purpose of this study is to determine the inter- and intra-rater reproducibility of direct physical measurement of tophus nodules in subjects with gout.
- Trial name
- NCT00175006
- Testing
- Measurement of Tophi to validate procedure
- Volunteers
- 13 people
- Sponsor
- Takeda