Clinical trials: Autosomal Recessive Disorder
Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets
Natural History of GACI With or Without ARHR2 or PXE
Generalized arterial calcification of infancy (GACI) is an ultra-rare disorder with an estimated birth prevalence of around 1 in 400,000.1 GACI is generally fatal before birth or within the first six months after birth.
- Conditions
- Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets, Pseudoxanthoma Elasticum
- Trial name
- NCT03758534
- Testing
- No intervention
- Where
- Germany
- Volunteers
- 80 people
- Sponsor
- Universität Münster
Autosomal Recessive Congenital Ichthyosis, Epidermolytic Ichthyosis
Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis.
- Trial name
- OMICHTYOSE (NCT05312073)
- Testing
- Biological samples, Skin biopsy
- Where
- France
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
p47, Autosomal Recessive
pCCLCHIM-p47 (Lentiviral Vector Transduced CD34 Plus Cells) in Patients With p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD)
Background: Chronic granulomatous disease (CGD) is a genetic disorder. People with CGD are missing a gene that affects their white blood cells.
- Conditions
- p47, Autosomal Recessive, Chronic Granulomatous Disease
- Trial name
- NCT06253507
- Testing
- Cryopreserved Autologous CD34+ cells transduced with pCCLCHIM-p47
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Hereditary Spastic Paraplegia, Spastic Paraplegia Type 11
Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
- Trial name
- 3AL-SPG11 (NCT04912609)
- Where
- Italy
- Volunteers
- 13 people
- Sponsor
- IRCCS Fondazione Stella Maris
Autosomal Recessive Polycystic Kidney (ARPKD)
A Study to See if Tolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
To evaluate the pharmacodynamics and safety of tolvaptan in pediatric subjects with ARPKD
- Trial name
- NCT04782258
- Testing
- Tolvaptan Suspension, Tolvaptan Tablets
- Where
- 23 sites in United States, Belgium and 4 more
- Volunteers
- 20 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Primary Hyperoxaluria
Phenotyping of Primary Hyperoxaluria
985 / 5000 Résultats de traduction Primary hyperoxaluria is a rare autosomal recessive disease with an estimated prevalence of around 1 to 3 cases per million population.
- Trial name
- PHENO-HOPLA (NCT05107830)
- Where
- France
- Volunteers
- 186 people
- Sponsor
- University Hospital, Strasbourg, France
Pain, Anxiety
Decreasing REcurrent Pain and Anxiety in Medical Procedures With a Pediatric Population: a Pilot Study
Children with injuries, including burns, experience severe pain intensity during medical procedures despite the increasing doses of analgesics.
- Conditions
- Pain, Anxiety, Burns, Child
- Trial name
- DREAM-P (NCT02977923)
- Testing
- VR distraction via Oculus Rift, Standard pharmacological treatment
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- St. Justine's Hospital
Retinal Degeneration, Retinitis Pigmentosa
Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F
The overall goal of this project, co-funded by the Foundation Fighting Blindness and the USHER 1F Collaborative is to characterize the natural history of disease progression in patients with PCDH15 mutations in order to…
- Conditions
- Retinal Degeneration, Retinitis Pigmentosa, Eye Diseases, Hereditary
- Trial name
- RUSH1F (NCT04765345)
- Where
- 10 sites in United States, Canada and 6 more
- Volunteers
- 44 people
- Sponsor
- Jaeb Center for Health Research
Congenital Amegakaryocytic Thrombocytopenia, Leukemia
Donor Stem Cell Transplant in Treating Young Patients With Myelodysplastic Syndrome, Leukemia, Bone Marrow Failure Syndrome, or Severe Immunodeficiency Disease
RATIONALE: Giving chemotherapy and total body irradiation before a donor bone marrow transplant or peripheral blood stem cell transplant helps stop the growth of cancer cells.
- Conditions
- Congenital Amegakaryocytic Thrombocytopenia, Leukemia, Myelodysplastic Syndromes, Severe Congenital Neutropenia
- Trial name
- NCT00295971
- Testing
- anti-thymocyte globulin, therapeutic allogeneic lymphocytes, fludarabine phosphate
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- University of California, San Francisco
Acute Leukemia, Severe Aplastic Anemia
AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
Children, adolescents, and young adults with malignant and non-malignant conditionsundergoing an allogeneic stem cell transplantation (AlloSCT) will have the stem cells selected utilizing α/β CD3+/CD19+ cell depletion.
- Conditions
- Acute Leukemia, Severe Aplastic Anemia, Non-hodgkin Lymphoma, Hodgkin Lymphoma
- Trial name
- NCT04099966
- Testing
- alpha beta depletion
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Mitchell Cairo
OTOF Gene Mutation, DFNB9
A Phase I/II Clinical Trial With SENS-501 in Children Suffering From Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations
This study intends to assess safety, tolerability, and efficacy of SENS-501 in children between the ages of 6-31 months with pre-lingual hearing loss due to a mutation in the Otoferlin gene.
- Conditions
- OTOF Gene Mutation, DFNB9, Congenital Deafness, Hearing Disorders
- Trial name
- AUDIOGENE (NCT06370351)
- Testing
- SENS-501 administration
- Where
- 2 sites in Australia, France
- Volunteers
- 12 people
- Sponsor
- Sensorion
GLUT1DS1, Epilepsy
Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)
Forty-five subjects receiving no dietary therapy with a proven G1D diagnosis will be enrolled. To evaluate the effect of C7 supplementation of a regular diet on a EEG activity in addition to IQ, language, working memory…
- Conditions
- GLUT1DS1, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders
- Trial name
- NCT03181399
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- University of Texas Southwestern Medical Center
Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive
Natural History in CCFDN and IBM Syndromes
So far, only limited data is available regarding the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM).
- Conditions
- Inclusion Body Myositis, Sporadic, Inclusion Body Myopathy, Autosomal-recessive, Inclusion Body Myopathy, Autosomal-dominant, Congenital Cataracts, Facial Dysmorphism, And Neuropathy
- Trial name
- NCT01902940
- Testing
- Natural History
- Where
- Germany
- Volunteers
- 350 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Pain, Burns
Decreasing REcurrent Pain and Anxiety in Medical Procedures With a Pediatric Population: Trial
Children with burn injuries experience severe pain intensity during medical procedures despite the increasing doses of analgesics.
- Conditions
- Pain, Burns, Child, Anxiety
- Trial name
- DREAM-T (NCT02947243)
- Testing
- VR distraction via Oculus Rift, Morphine
- Where
- Canada
- Sponsor
- St. Justine's Hospital