Clinical trials: Genetic Conditions
Anemia, Iron Deficiency
Is Iron Deficiency the Cause of Anemia Among Women in Cambodia?
Globally, the most common cause of anemia is thought to be iron deficiency anemia (IDA). This was assumed to be the major cause of anemia in Cambodia, because Cambodian diets, which consist mainly of rice, lack iron-rich animal…
- Conditions
- Anemia, Iron Deficiency, Hemoglobin Disorder, Infection
- Trial name
- NCT02481375
- Testing
- Multiple micronutrients, Iron
- Where
- Cambodia
- Volunteers
- 809 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Sickle Cell Disease
Home-Based Intervention for Chronic Pain in Adults With Sickle Cell Disease
This project will evaluate AppliedVR's EaseVRx - a multi-modal, skills-based, 8-week, virtual reality, home intervention - in an exploratory randomized controlled trial for self-management of chronic pain among Black, young…
- Trial name
- NCT04906707
- Testing
- EaseVRx, Audio-only version of EaseVRx
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Emory University
Tourette Syndrome
Efficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome
This is an investigator-initiated proof of concept study with the purpose to examine the safety, tolerability and feasibility of Dronabinol (synthetic Δ9-THC) and PEA for the treatment of adults with Tourette syndrome.
- Trial name
- NCT03066193
- Testing
- Dronabinol and Palmitoylethanolamide
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Yale University
Huntington's Disease
Open Label Extension Study To Investigate Long Term Safety, Tolerability And Efficacy Of Pf-02545920 In Subjects With Huntington's Disease Who Completed Study A8241021
This study is a 12 month open label extension study of PF-02545920 20 mg dosed BID following study A8241021 in subjects with HD. Primary endpoints will be to assess long-term safety and tolerability of 20 mg BID of PF-02545920.
- Trial name
- NCT02342548
- Testing
- 20 mg BID of PF-02545920
- Where
- 50 sites in United States, Canada and 3 more
- Volunteers
- 188 people
- Sponsor
- Pfizer
Tourette Syndrome, Tic Disorder, Chronic Motor or Vocal
Open-label MNS for Tourette Syndrome
A recent report (Morera Maiquez et al 2020) described reduced tic severity in people with Tourette syndrome during 1-minute epochs of median nerve stimulation (MNS) at 10 Hz.
- Trial name
- NCT05016765
- Testing
- Active, self-directed electrical stimulation of the median nerve
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Washington University School of Medicine
Accelerated Phase Chronic Myelogenous Leukemia, Adult Acute Lymphoblastic Leukemia in Remission
Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
This phase II trial studies how well giving fludarabine phosphate, melphalan, and low-dose total-body irradiation (TBI) followed by donor peripheral blood stem cell transplant (PBSCT) works in treating patients with hematologic…
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, Adult Acute Lymphoblastic Leukemia in Remission, Adult Acute Myeloid Leukemia in Remission, Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities
- Trial name
- NCT01529827
- Testing
- fludarabine phosphate, melphalan, total-body irradiation
- Where
- United States
- Volunteers
- 94 people
- Sponsor
- Roswell Park Cancer Institute
Jaundice, Neonatal, Hyperbilirubinemia, Neonatal
Stannsoporfin With Light Therapy for Newborn Babies With Jaundice
It is normal for red blood cells to die, even in newborn babies. The waste from that is called bilirubin. The liver clears bilirubin out of the body.
- Trial name
- JASMINE_204 (NCT01887327)
- Testing
- Phototherapy, Stannsoporfin
- Where
- 18 sites in United States
- Volunteers
- 91 people
- Sponsor
- InfaCare Pharmaceuticals Corporation, a Mallinckrodt Company
Pompe Disease, Glycogen Storage Disease Type II
An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease
The purpose of this study was to evaluate the efficacy, clinical benefits and safety of a prophylactic immunomodulatory regimen given prior to first treatment with alglucosidase alfa (Myozyme®) in patients with infantile-onset…
- Trial name
- NCT00701129
- Testing
- Alglucosidase Alfa, Methotrexate, Rituximab
- Where
- 2 sites in United States
- Volunteers
- 4 people
- Sponsor
- Genzyme, a Sanofi Company
Idiopathic Short Stature, Failure to Thrive
Ghrelin Levels in Children With Poor Growth
The investigators hypothesize that low serum ghrelin levels may characterize a group of patients with poor weight gain and/or linear growth who do not have any other identified cause for growth failure.
- Trial name
- NCT01070173
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- Tripler Army Medical Center
Cystinosis
Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis
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) which must be taken every six hours for the…
- Trial name
- NCT01000961
- Testing
- Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103)
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 43 people
- Sponsor
- Amgen
Niemann-Pick Disease, Type C
Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease
Due to different study designs, the sponsor separated Part C into this separate registration (NCT04958642), leaving Parts A/B in NCT02534844.
- Trial name
- NCT04958642
- Testing
- Adrabetadex
- Where
- 30 sites in United States, Australia and 7 more
- Volunteers
- 66 people
- Sponsor
- Mandos LLC
Epidermolysis Bullosa, Pruritus
Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients
Our goal is to determine whether daily oral administration of VPD-737 (5 mg) is effective and safe in treating moderate to severe pruritus in patients with Epidermolysis Bullosa (EB).
- Trial name
- NCT02654483
- Testing
- VPD-737
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Jean Yuh Tang
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
Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy
SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
The single-center, open-label Phase II study has the objective of assess the effect of MD1003 on motor and sensory conduction in patients suffering from demyelinating polyneuropathies in 15 subjects.
- Conditions
- Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth Disease Type 1A
- Trial name
- NCT02967679
- Testing
- MD1003
- Where
- France
- Volunteers
- 15 people
- Sponsor
- MedDay Pharmaceuticals SA
CDK Gene Mutation, Metastatic Malignant Neoplasm in the Brain
Genetic Testing in Guiding Treatment for Patients With Brain Metastases
This phase II trial studies how well genetic testing works in guiding treatment for patients with solid tumors that have spread to the brain.
- Conditions
- CDK Gene Mutation, Metastatic Malignant Neoplasm in the Brain, Metastatic Malignant Solid Neoplasm, NTRK Family Gene Mutation
- Trial name
- NCT03994796
- Testing
- Abemaciclib, PI3K Inhibitor paxalisib, Entrectinib
- Where
- 435 sites in United States
- Volunteers
- 50 people
- Sponsor
- Alliance for Clinical Trials in Oncology
Fanconi Anemia
Eltrombopag for Fanconi Anemia
Background: Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This means their bone marrow no longer works properly.
- Trial name
- NCT03206086
- Testing
- Eltrombopag
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Von Willebrand Diseases
Minimize Menorrhagia in Women With Von Willebrand Disease
This is an outpatient, 24-week Phase III prospective, randomized, crossover trial comparing recombinant von Willebrand factor (rVWF) and tranexamic acid (TA, Lysteda®) to minimize menorrhagia in women with von Willebrand disease…
- Trial name
- VWDMin (NCT02606045)
- Testing
- recombinant von Willebrand factor, tranexamic acid
- Where
- 19 sites in United States
- Volunteers
- 39 people
- Sponsor
- Margaret Ragni
Immune Deficiency Disorders, Severe Combined Immunodeficiency
Immune Disorder HSCT Protocol
This study hypothesizes that a reduced intensity immunosuppressive preparative regimen will establish engraftment of donor hematopoietic cells with acceptable early and delayed toxicity in patients with immune function disorders.
- Conditions
- Immune Deficiency Disorders, Severe Combined Immunodeficiency, Chronic Granulomatous Disease, X-linked Agammaglobulinemia
- Trial name
- NCT01821781
- Testing
- Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Washington University School of Medicine
HIV/AIDS, Albuminuria
Optimal Management of HIV Infected Adults at Risk for Kidney Complications in Nigeria
In this study, the Investigators plan to determine the optimal means to prevent or slow the progression of kidney disease among genetically at-risk northern Nigerian HIV-infected adults.
- Conditions
- HIV/AIDS, Albuminuria, Kidney Diseases, Genetic Predisposition
- Trial name
- R3 (NCT03201939)
- Testing
- Lisinopril
- Where
- Nigeria
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Atopic Dermatitis, Eczema
Cooling Pillow for Atopic Dermatitis
The purpose of this study is to see if using a cooling pillow at night will help sleep quality in people with atopic dermatitis (AD).
- Trial name
- NCT01132651
- Testing
- Current standard eczema treatment and standard pillow at night, Chillow cooling pillow
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Northwestern University