Clinical trials: Genetic Conditions
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.
Atopic Dermatitis
The Purpose of This Study is to Evaluate the Effects of Ruxolitinib Cream on Adults With Atopic Dermatitis Experiencing Sleep Disturbance.
The purpose of the study is to evaluate the effect of ruxolitinib cream on sleep disturbances with participants with Atopic Dermatitis.
- Trial name
- MORPHEUS (NCT05696392)
- Testing
- ruxolitinib cream
- Where
- 30 sites in United States
- Volunteers
- 47 people
- Sponsor
- Incyte Corporation
Albinism, Vision Loss
Nitisinone for Type 1B Oculocutaneous Albinism
Background: Oculocutaneous albinism, type 1B (OCA1B) is a genetic disease caused by problems in the gene that makes tyrosine. Tyrosine is an amino acid needed to produce pigment in the skin, hair, and eyes.
- Trial name
- NCT01838655
- Testing
- Nitisinone
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)
Alpha 1-Antitrypsin Deficiency
Study of Fazirsiran (TAK-999, ARO-AAT) in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATD)
The purpose of this study is to evaluate the the safety and efficacy of the investigational product, fazirsiran (TAK-999, ARO-AAT), administered subcutaneously to patients with alpha-1 antitrypsin deficiency associated liver…
- Trial name
- NCT03946449
- Testing
- ARO-AAT
- Where
- 4 sites in Austria, Germany and 1 more
- Volunteers
- 16 people
- Sponsor
- Arrowhead Pharmaceuticals
Aneuploidy
National Prevalence and Impact of Noninvasive Prenatal Testing
Information on pregnant women undergoing non-invasive prenatal testing (NIPT) at one of the Obstetrix Medical Groups Outpatient Centers between January 2012 and June 2014 will be retrospectively gathered and an analysis of the…
- Trial name
- NCT02284399
- Testing
- non-invasive prenatal testing
- Where
- 7 sites in United States
- Volunteers
- 4,488 people, healthy volunteers welcome
- Sponsor
- Obstetrix Medical Group
Cystic Fibrosis, Depressive Symptoms
Bright Light Therapy for Depression Symptoms in Adults With Cystic Fibrosis (CF) and COPD
This is a project that will determine whether the use of daily bright light therapy has an effect on depressive symptoms experienced by adult inpatients with CF and COPD.
- Conditions
- Cystic Fibrosis, Depressive Symptoms, Chronic Obstructive Pulmonary Disease
- Trial name
- NCT04921332
- Testing
- Bright Light Therapy (BLT) Lamp
- Where
- 2 sites in United States
- Volunteers
- 4 people
- Sponsor
- Erica Osborn
Prader-Willi Syndrome
Octreotide Therapy in Children and Young Adults With Prader-Willi Syndrome (PWS)
The purpose of this study is to investigate over a 6 month period the effect of octreotide therapy on food intake, sense of hunger, body weight, body composition, efficiency of burning calories, biomarkers of weight regulation…
- Trial name
- NCT00399893
- Testing
- Octreotide
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Duke University
Smith-Lemli-Opitz Syndrome
Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
This study will evaluate the safety and effectiveness of simvastatin in treating children with Smith-Lemli-Opitz syndrome (SLOS).
- Trial name
- NCT00064792
- Testing
- Simvastatin Susp., OraPlus
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Forbes Porter, M.D.
AMN, AMN Gene Mutation
A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)
This is a Phase 1/2 randomized, blinded, dose-escalation study to evaluate the safety and efficacy of intrathecal (IT) administration of SBT101, a recombinant adeno-associated virus serotype 9 (AAV9) containing a functional copy…
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- PROPEL (NCT05394064)
- Testing
- SBT101 Treatment
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 9 people
- Sponsor
- SwanBio Therapeutics, Inc.
Genetic Predisposition
Care Plans for Cancer Predisposition
Develop and evaluate acceptability, feasibility, and preliminary efficacy of digital care plan and accompanying text message reminders for children and adolescents with a known Cancer Predisposition Syndromes (CPS).
- Trial name
- NCT05736497
- Testing
- Digital Care Plans
- Where
- United States
- Volunteers
- 177 people
- Sponsor
- Children's Hospital of Philadelphia
Urea Cycle Disorders
Study of the Safety of HPN (Hyperion)-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD)
This was a long-term safety study HPN-100 in urea cycle disorder (UCD) subjects. Subjects were assessed regularly for safety and control of their venous ammonia.
- Trial name
- NCT00947297
- Testing
- HPN-100
- Where
- 22 sites in United States, Canada
- Volunteers
- 60 people
- Sponsor
- Amgen
Von Willebrand Diseases, Postpartum Hemorrhage
Prevent Postpartum Hemorrhage in Women With Von Willebrand Disease: The VWD-WOMAN Trial
This is a single-center randomized phase III clinical trial, the VWD-Woman Trial, in which 20 pregnant subjects with von Willebrand disease (VWD), defined as VWF ristocetin co-factor activity (VWF:RCo) <0.50 IU/ml (historic) and…
- Trial name
- NCT04344860
- Testing
- Recombinant Von Willebrand factor, Tranexamic Acid Injection [Cyklokapron]
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Nicoletta C Machin
Alpha-1 Antitrypsin Deficiency (AATD), Pi*ZZ, Pi*SZ, Pi*Null, Another Rare Phenotype/Genotype Known to be Associated With Either Low or Functionally Impaired AAT Including F or I Mutations
Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin Deficiency
This is a Phase 2, multicenter, double-blind, randomized (1:1), placebo-controlled, 12-week, proof-of-concept study to evaluate the safety and tolerability as well as the mechanistic effect of oral administration of alvelestat…
- Conditions
- Alpha-1 Antitrypsin Deficiency (AATD), Pi*ZZ, Pi*SZ, Pi*Null, Another Rare Phenotype/Genotype Known to be Associated With Either Low or Functionally Impaired AAT Including F or I Mutations, Emphysema or COPD
- Trial name
- ATALANTa (NCT03679598)
- Testing
- Alvelestat (MPH966)
- Where
- 10 sites in United States
- Volunteers
- 63 people
- Sponsor
- University of Alabama at Birmingham
Polymorphism-Genetic, Pain
Genetic Effects on Dopamine Response to an Opiate
Background: Small differences in genes may alter responses to drugs. One gene that has different forms is the mu opioid receptor gene. People with one form of this gene are more sensitive to alcohol.
- Conditions
- Polymorphism-Genetic, Pain, Addiction
- Trial name
- NCT01878006
- Testing
- Morphine
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- National Institute on Alcohol Abuse and Alcoholism (NIAAA)
Lennox-Gastaut Syndrome
A Long Term Extension Study of E2080 in Lennox-Gastaut Patients
To investigate the safety of long term administration of E2080 in the patients with Lennox-Gastaut syndrome who completed the E2080-J081-304 Study.
- Trial name
- NCT01151540
- Testing
- Rufinamide
- Where
- 23 sites in Japan
- Volunteers
- 54 people
- Sponsor
- Eisai Co., Ltd.
Alpha 1-Antitrypsin Deficiency
Comparison of Pharmacokinetic, Safety, Tolerability of Alpha-1 MP and Prolastin In Alpha1-antitrypsin Deficient Adults
The purpose of this clinical study (ChAMP - Comparability pharmacokinetics of Alpha-1 Modified Process) is to compare the pharmacokinetic, safety and tolerability of Alpha-1 Proteinase Inhibitor (Human), modified process (Alpha-1…
- Trial name
- ChAMP (NCT00295061)
- Testing
- Alpha-1 MP, alpha-1 proteinase inhibitor (human)
- Where
- 8 sites in United States
- Volunteers
- 24 people
- Sponsor
- Grifols Therapeutics LLC
Huntington Disease, Chorea
Citalopram to Enhance Cognition in HD
This research plan proposes to conduct a double-blind, placebo-controlled pilot clinical trial in 36 adults with mild Huntington's disease (HD) to address the following research aims: 1.
- Conditions
- Huntington Disease, Chorea, Executive Dysfunction
- Trial name
- CIT-HD (NCT00271596)
- Testing
- 20mg daily citalopram
- Where
- 3 sites in United States
- Volunteers
- 33 people
- Sponsor
- University of Iowa
Vulvar Lichen Sclerosus
The CO2RE® System for Vulvar Lichen Sclerosus
Subjects with vulvar lichen sclerosus (VLS) will undergo fractional carbon dioxide (CO2) laser treatment to the vulvar area. Subjects will be evaluated for changes in clinical signs and architectural changes associated with VLS…
- Trial name
- NCT04148651
- Testing
- The CO2RE® System
- Where
- 4 sites in United States
- Volunteers
- 14 people
- Sponsor
- Candela Corporation
Down Syndrome, Trisomy 21
Down Syndrome Metabolic Health Study
The purpose of this research study is to determine which measures best capture cardiovascular disease (CVD) risk and type 2 diabetes (T2DM) risk in children and adolescents with Down syndrome (DS).
- Trial name
- NCT01821300
- Where
- 2 sites in United States
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Irritable Bowel Syndrome
Comparison of Rimegepant and Placebo for Pain in IBS
The primary aim of this study is to evaluate the efficacy of rimegepant on abdominal pain scores in participants with non-constipation IBS.
- Trial name
- NCT06221111
- Testing
- Rimegepant 75 MG [Nurtec]
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- Mayo Clinic