Clinical trials: Orphan Diseases
HIV Infection, HIV Infections
Reassessment of the Nutritional Status in Thai Orphans Living With HIV in a Family Style Community
To reassess nutritional status of HIV-infected Thai children living in the family style community after receiving nutrition support program for 6 months.
- Trial name
- TACHIN003-1 (NCT01002612)
- Where
- Thailand
- Volunteers
- 73 people
- Sponsor
- Thai Red Cross AIDS Research Centre
Dysmorphia, Orphan Diseases
Automatic Phenotyping of Patients on 2D Photography
The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.
- Conditions
- Dysmorphia, Orphan Diseases, Dysmorphies Craniofaciales
- Trial name
- AIDY2 (NCT06219421)
- Testing
- Clinical data reuse
- Where
- France
- Volunteers
- 22,000 people
- Sponsor
- Imagine Institute
Depression, Anxiety
Effect of the MindUP Program on Depression, Anxiety, and Stress in Pakistani Orphan Adolescents
This study evaluates the effectiveness of the MindUP mindfulness-based program in reducing depression, anxiety, and stress among orphan adolescents in Pakistan.
- Conditions
- Depression, Anxiety, Stress
- Trial name
- MINDUP-PAK (NCT07468994)
- Testing
- MindUP Program
- Where
- Pakistan
- Volunteers
- 61 people, healthy volunteers welcome
- Sponsor
- Quaid-e-Azam University
Orphan Diseases, Rare Disorders
Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients
"Rare Diseases" is an umbrella term including more than 8.000 different diseases which individually affect only a small percentage of people.
- Conditions
- Orphan Diseases, Rare Disorders, Pediatric Diseases, Inborn Errors of Metabolism Disorders
- Trial name
- NCT06729554
- Testing
- Education & Care in RARE
- Where
- 7 sites in Austria
- Volunteers
- 100 people
- Sponsor
- Medical University of Vienna
Gingival Disease Due to Bacteria
Oral Health Status and Diet History Analysis Among Orphan House Children From 10-14 Years in Cairo Governorate.
the purpose of study to determine oral health status and dietary habits among group of orphan children from 10-14 years in Cairo Governorate.
- Trial name
- NCT04167826
- Volunteers
- 115 people, healthy volunteers welcome
- Sponsor
- Cairo University
Posttraumatic Stress Disorder, Depression
A Randomized Controlled Clinical Trial With Orphans and Widows Who Experienced the Rwandan Genocide
In the framework of the epidemiological study, local psychologists are trained in Butare in carrying out diagnostic interviews with orphans and widows who experienced the Rwandan genocide.
- Conditions
- Posttraumatic Stress Disorder, Depression, Prolonged Grief Disorder
- Trial name
- NCT00553956
- Testing
- Narrative Exposure Therapy/Interpersonal Psychotherapy
- Where
- Rwanda
- Volunteers
- 150 people
- Sponsor
- University of Konstanz
Limb Girdle Muscular Dystrophy Type 2C, Gamma-sarcoglycanopathy
Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C
The purpose of this trial is to study the evaluation of clinical safety and feasibility of gene therapy in patients with limb girdle muscular dystrophy type 2C (gamma-sarcoglycanopathy).
- Trial name
- NCT01344798
- Testing
- AAV1-gamma-sarcoglycan vector injection
- Where
- France
- Volunteers
- 9 people
- Sponsor
- Genethon
Dysmorphology, Orphan Diseases
Characterization and Recognition of Genetic Diseases by Photography
There are around 8,000 rare diseases and new ones are described every month in the scientific literature. They affect a limited number of patients.
- Trial name
- AIDY (NCT06225141)
- Testing
- Clinical Data reuse
- Where
- France
- Volunteers
- 935 people
- Sponsor
- Imagine Institute
Rare Diseases, Orphan Diseases
Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare Diseases
In people suffering from a rare disease the diagnostic process and the confirmation of a final diagnosis is often ongoing for many years.
- Trial name
- ZSE-DUO (NCT03563677)
- Testing
- dual expert guidance structure
- Where
- 12 sites in Germany
- Volunteers
- 1,379 people
- Sponsor
- Wuerzburg University Hospital
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
MECP2 Duplication Syndrome
A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)
Methyl-CpG binding protein 2 (MECP2) is a dosage-sensitive, X-linked gene critical for central nervous system development and functional maintenance, which gain-of-function causes MECP2 duplication syndrome (MDS).
- Trial name
- HERO (NCT06615206)
- Testing
- HG204
- Where
- China
- Volunteers
- 6 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
Eczema/Atopic Dermatitis, Cancer
Patient Forward Access to Clinical and Technological Research: Genetic Influences on Cancer and Atopic Dermatitis
This Patient Forward study intends to conduct research to investigate potential genetic factors causing cancer and eczema/atopic dermatitis.
- Trial name
- PFACTR02 (NCT04362852)
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Poverty, Orphaned Children
Bridges to the Future: Economic Empowerment for AIDS-Orphaned Children in Uganda
Bridges to the Future: Economic Empowerment for AIDS-Orphaned Children in Uganda, represents the first study that measures medium-term efficacy and cost-effectiveness of a family economic empowerment intervention for…
- Conditions
- Poverty, Orphaned Children, AIDS Orphans
- Trial name
- NCT01447615
- Testing
- Bridges, Bridges PLUS, Usual Care
- Where
- Uganda
- Volunteers
- 1,410 people, healthy volunteers welcome
- Sponsor
- Columbia University
Cystinosis
Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis
The purpose of this study is to gather information about the effectiveness (how well it works to treat cystinosis) and safety of a new form of cysteamine bitartrate called RP103, compared to the already-approved drug cystinosis…
- Trial name
- NCT01733316
- Testing
- RP103, Cystagon®
- Where
- 14 sites in United States, Belgium and 4 more
- Volunteers
- 41 people
- Sponsor
- Amgen
Fibrosis Syndrome, Lymphedema
Reversing External-beam Radiotherapy-associated Fibrosis Syndrome: an Interventional Bayesian Adaptive Randomized-controlled Orphan Drug Platform Trial for Orodental Sequelae (Reverse-fibrose)
To find out if adding medication can help treat or prevent lymphedema and/or fibrosis related to radiation therapy, in survivors of head and neck cancer.
- Conditions
- Fibrosis Syndrome, Lymphedema, Head &Amp; Neck Cancer, Fibrosis
- Trial name
- NCT06912763
- Testing
- Pravastatin (drug), Pentoxifylline, ketoprofen
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- M.D. Anderson Cancer 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
Inborn Errors of Metabolism
Orphan Drugs for Inherited Metabolic Diseases
The aim of this study is to report and describe all the patients with confirmed diagnosis of inherited metabolic disease (IMD) treated with orphan medicinal products (OMPs) in a cohort of adult patients followed in a reference…
- Trial name
- NCT05818566
- Where
- Switzerland
- Volunteers
- 39 people
- Sponsor
- University of Lausanne
Netherton Syndrome
Clinical Trial Using Humira in Netherton Syndrome
The main objective of this studies therapeutic : to determine the effect of Adalimumab (HumiraR) on clinical inflammatory manifestations of patients with Netherton syndrome after 3 months of treatment , with a post treatment…
- Trial name
- AntiTNF-SN (NCT02113904)
- Testing
- Adalimumab
- Where
- France
- Volunteers
- 11 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
CDKL5 Deficiency Disorder (CDD)
International CDKL5 Registry
Owing to the recent classification of CDKL5 Deficiency Disorder (CDD) as a unique disorder, there is a limited understanding of overall disease natural history and meaningful outcome measures.
- Trial name
- NCT04486768
- Testing
- Survey Instrument
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- University of Pennsylvania
Bardet-Biedl Syndrome, Orphan Diseases
Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure).
- Trial name
- NCT00213811
- Testing
- clinical, biological, and radiological
- Where
- France
- Volunteers
- 40 people
- Sponsor
- University Hospital, Strasbourg, France